human genetics commission

Human Genetics Commission


Seventh Report from April 2007 to March 2008

Chair’s introduction


This was a year of significant activity, reflection and transition for the Human Genetics Commission. In September 2007, Baroness Helena Kennedy, QC, stepped down after almost eight years as the HGC’s Chair. Following her departure, the Commission underwent an independent review of its role, remit and effectiveness, which reported in early 2008. In the mean time, we made a substantial contribution to the Government’s Green Paper on a proposed Single Equality Bill, published a second report on consumer genetic testing, promoted public dialogue on the forensic National DNA Database through our ‘Citizens’ Inquiry’, and responded to requests for advice from Government on new techniques in non-invasive prenatal diagnosis.

Baroness Kennedy’s departure was a great loss to the Commission. Since the Commission’s establishment in 1999 she has been an indefatigable advocate of openness and champion of public participation in ethical debate. She has steered the Commission with authority and purpose, ensuring a level of debate that was both exciting to specialists and accessible to non-specialists. I felt honoured, therefore, to be asked to lead the HGC as Acting Chair following her departure. All her former colleagues on the Commission wish Baroness Kennedy well for the future and hope she will continue to be an active follower and supporter of HGC’s work.

The independent review that took place at the end of 2007 and beginning of 2008 was an opportunity for the Commission, as much as for the reviewers, to reflect on its role, the context it inhabits and the way it goes about its business. The review proved to be a positive and re-energising experience for the Commission, and we have since been devoting attention to how we might implement many of the reviewers’ recommendations. The overall endorsement of the Commission’s work, and the continuing importance of this work, confirmed our own conviction that the ethical and legal implications of developments in human genetic knowledge and its applications for health, and economic and social wellbeing deserve dedicated and focussed deliberation in each new context in which human genetic knowledge and technology unfold.

Whilst the review provided a context for reflection, the Commission continued to pursue a full programme of activities.

The publication of the long-awaited Government green paper ‘A framework for fairness: proposals for a Single Equality Bill for Great Britain’ in July 2007 provided the opportunity for the HGC to draw together its advice on genetic discrimination and make specific recommendations on how the threat of unfair treatment on grounds of genetic difference might be addressed practically through legislation.

Given the way in which growth in the consumer genetic testing sector was outstripping developments in regulation, More Genes Direct, published in December 2007, focussed on practical measures to safeguard consumer interests. We have subsequently taken these up actively with key stakeholders.

Having at last secured sufficient funding and established partnerships with external bodies with complementary expertise, the Citizens’ Inquiry into the forensic use of genetic information got underway with the appointment of a facilitation team and the convening of the citizen panels. We were also delighted to see that, following further correspondence and discussion with the Home Office and National DNA Database Strategy Board, our recommendation for an independent Ethics

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Committee for the National DNA Database was put into effect, with the establishment of the NDNAD Ethics Committee by the Home Office, in July 2007.

We also showed that we could respond quickly to changing agendas and specific requests for advice from Ministers, giving over a substantial section of our February plenary meeting to deliberate the new technique of antenatal testing using cell-free fetal DNA recovered from a pregnant woman’s blood. Our advice on the need for urgent but careful evaluation, will help to ensure that women can benefit from a safe, early test for certain genetic conditions that is appropriately used and managed.

When I look back on our work and achievements over the year I think there is no doubt that the HGC has, in the words of the reviewers, represented exceptional value for money and consistently ‘punched above its weight in terms of influencing public policy’. I am delighted that, in responding to the review’s findings, Ministers have recognised the continuing value of the Commission as a source of advice and a forum for deliberation about the implications of developments in genetics for us all. This was underlined for us when, as this reporting year closed, the House of Lords Science and Technology Committee announced that it would hold a major inquiry into genomic medicine. There is, clearly, still much for the HGC to do.

John Sulston Acting Chair, Human Genetics Commission, 20081

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Contents

Contents

Chair’s Introduction i

Our Meetings held between April 2007 and March 2008 1 April 2007 – Edinburgh 1

September 2007 – Durham 1

December 2007 – London 2

February 2008 – Cambridge 2

Key pieces of work 3 More Genes Direct: A report on developments in the availability, marketing and regulation

of genetic tests supplied directly to the public 3

The Citizens’ Inquiry into the forensic use of DNA and genetic information 4

Independent review of the HGC 5

HGC and Genetic Discrimination 5

HGC Work Plan 2008-09 7 Carrying forward ongoing work 7

Implementing recommendations of the independent review 7

Responding to new developments 8

Consultative Panel 9

Business Committee and Public Involvement 10 Membership of the Business Committee during the reporting period 10

HGC website 10

Inside DNA Exhibition 11

Discrimination Monitoring Group 12 Membership during the reporting period 12

Identity Testing Monitoring Group 13 Membership during the reporting period 13

Intellectual Property Monitoring Group 14 Membership during the reporting period 14

Databases Monitoring Group 15

Genetic Services Monitoring Group 16

Appendix A – HGC Membership, April 2007 – March 2008 18

Appendix B: How HGC works (role, terms of reference, methods of working and code of practice) 20

Appendix C: Register of members interests 23

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Contents

Appendix D: Finance 28

Appendix E: HGC statements, consultation responses and other correspondence 29

Appendix F: Publications 72

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OurOur meetingsmeetings

Our Meetings held between April 2007 and March 2008

This year we have followed established practice for the HGC and held our four main plenary meetings in public. We visited Scotland and, for the first time, held three – rather than two – of our four plenary meetings outside London. The minutes and audio recordings of our meetings, as well as reports of proceedings are published on our website (www.hgc.gov.uk). Details of our information gathering sessions covering a variety of subjects can also be found on the HGC website.

April 2007 – Edinburgh

In April 2007, we held our 28th Plenary meeting in Edinburgh. The meeting began with a presentation from Dr Steve Sturdy of the ESRC Genomics Policy and Research Forum on the role of Social Science in Genomics. Topics discussed by Commissioners during the plenary included genetics and antidiscrimination legislation, results of a survey of NHS Genetic Services undertaken by the HGC and the use of antenatal diagnostic tests for Down’s Syndrome.

The following day, the Commission held a public information session in association with the ERSC Genomics Policy and Research Forum on “Generation Scotland: Genetics Research and Health”. The aim of Generation Scotland is to create an ethically sound, familial database that will help in identifying the genetic basis of common complex diseases. The session involved presentations from Professor David Porteous, Professor of Human Molecular Genetics and Medicine at Edinburgh University; Professor Andrew Morris, Chairman of the Generation Scotland Scientific Board and Professor Graeme Laurie from Edinburgh Law School. After each presentation the audience was given the opportunity to ask questions.

September 2007 – Durham

In September 2007 the HGC visited Durham. The main item for discussion was the Commission’s response to the UK Government’s Discrimination Law Review (leading to the development of proposed, consolidated anti-discrimination legislation). The Commission also discussed how to take forward the report of the Genes Direct follow-up meeting and work on genetic tests supplied directly to the public and it discussed the responses it had received from a survey on funding of genetic services within the NHS.

To support the Commission’s deliberations the first afternoon was taken up with an information gathering session on genetics and discrimination. Adam Butterworth, from the University of Cambridge, presented on the potential use of family history information, which takes into account both shared genes and shared environments, as a proxy for genetic information. Geraint Day, Head of Devolved Government and Health Policy at the Institute of Directors (IOD), updated the Commission with the results of a survey of IOD members on Health and Genetic testing in the workplace. The survey found that members believe that genetic testing of employees would only be appropriate if it is to monitor the risk of developing occupational-related diseases and then only if the employee consents. Dr Alison Stewart from the PHG Foundation explored the difficulties surrounding the definitions of disease and risk factors and noted how the definition of a ‘genetic test’ has changed repeatedly over the years. Ms Elaine Banton, Treasurer for the Discrimination Law Association provided a background to the Discrimination Law review, discussed the framework of the review and identified where genetic discrimination may fit with current legislation. Finally, Dave Evans, Senior Data Protection Practice Manager at the Information Commissioner’s Office, presented on privacy and protection of genetic information.

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http://www.hgc.gov.uk

OurOur meetingsmeetings

A summary of these presentations can be viewed at the HGC website.

December 2007 – London

The December meeting in London coincided with the launch of the Commission’s report More Genes Direct: A report on developments in the availability, marketing and regulation of genetic tests supplied directly to the public. This report is discussed in more detail under ‘key pieces of work’, below. Plenary discussions covered the forensic use of genetic information in preparation for the HGC Citizens’ Inquiry on this subject (see ‘key pieces of work’, below) and gave Commissioners an opportunity to consider the findings of a Nuffield Council on Bioethics report –The forensic use of bio-information: ethical issues. The idea that there should be ethical limits to the kinds of genetic research that might be undertaken was also discussed.

The following day was given over to the annual Consultative Panel event. This provides an opportunity for Commissioners and members of the Consultative Panel (people with personal experience of living with a genetic condition) to discuss a number of previously identified topics. As always, this was a lively and informative event, during which Commissioners and consultative panel members shared their experience, knowledge and perspectives on the forensic use of genetic information, informing and educating the public about genetics and priorities for genetic research. Consultative Panel members were given the opportunity, during the day, to contribute their views to the independent review of the Commission, which was in progress at this time.

February 2008 – Cambridge

The February 2008 plenary meeting took on a slightly different format from usual. The second half of the meeting was dedicated to discussions on a technique for non-invasive prenatal diagnosis (using cell-free fetal DNA/RNA found circulating in the expectant mother’s blood). The discussion was informed by three brief presentations on the technique and its applications and the ethical issues potentially associated with it.

Dr Lyn Chitty, a Consultant and Reader in Genetics and Fetal Medicine at the Institute of Child Health, discussed the potential applications of screening cell-free fetal DNA from maternal plasma. Dr Helen White, Senior Scientist at the National Genetics Reference Laboratory, Wessex gave a presentation on the technical aspects and challenges of using cell-free fetal DNA as a prenatal diagnostic test. Finally, Professor Martin Bobrow, professor of Medical Genetics at Addenbrooke’s Hospital in Cambridge, set out some ethical issues relating to prenatal diagnosis using cell-free fetal DNA. The discussions were well attended by members of the public, who were invited to put questions to the presenters and Commissioners, following the Commission’s discussion. Following the meeting, the Commission’s advice on the new technique was submitted to the Department of Health. It can be read on the HGC website.

The following day the Commissioners took part in a workshop in association with the independent reviewers who had been asked to review the HGC on behalf of the Commission’s sponsor departments: the Department of Health, the Department of Trade and Industry (now the Department for Innovation, Universities and Skills) and the devolved administrations. You can read more about the HGC review in the ‘key pieces of work’ section in this report.

The full minutes of all the HGC plenary meetings, as well as the audio recordings of the proceedings and notes of presentations from information gathering sessions, are available on the HGC website.

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Key pieces of work

Key pieces of work

More Genes Direct: A report on developments in the availability, marketing and regulation of genetic tests supplied directly to the public In December, we published our report on consumer genetic tests, More Genes Direct. Our work in this area began in February 2002, when we were asked by Ministers to conduct a review of genetic testing services supplied directly to the public. In March 2003, the HGC produced the report Genes Direct: Ensuring effective oversight of genetic tests supplied directly to the public. This report highlighted some important concerns about the growing market in consumer genetic tests and went on to make a series of recommendations for the development of a framework of regulation.

Since the publication of Genes Direct, the HGC has been aware of a marked increase in the number of companies offering genetic tests and genetic services directly to consumers, especially over the Internet. The tests range from so called ‘lifestyle’ tests to tests that claim to be able to predict the onset of disease, the results of which can significantly influence choices that an individual makes, which in turn, can have a significant impact on an individual’s health. The HGC therefore renewed its commitment to ongoing collaboration with regulators within and outside the EU on the oversight of direct genetic tests, and, last year, held a meeting to review the developments in the light of the recommendations made in Genes Direct, to identify regulatory gaps and to make realistic proposals that the HGC would put to the UK Government and other national and international bodies.

The meeting, which was organised by HGC’s Genetic Services Monitoring Group and involved both consumer organisations and companies that supply genetic tests, as well as officials and representatives of organisations with key roles in the domestic and international oversight of genetic tests led this year to the publication of More Genes Direct as a follow-up to the earlier report.

Whilst re-emphasising the continued relevance of recommendations from the original 2003 report, More Genes Direct contained a number of new recommendations with a pragmatic emphasis, given a new urgency by the pace of developments in the consumer genetics sector. The recommendations identified three practical and achievable responses:

LL To support a review of the way in which genetic tests were automatically classified as ‘low risk’ for the purposes of the European In Vitro Diagnostic Devices Directive (re-classification at higher risk would mean they would be subject to more stringent requirements for independent pre-market review).

LL For tests that fall outside the scope of the IVDD Directive, an alternative regulatory mechanism should be considered to ensure appropriate oversight; agreed guidelines on good practice for direct genetic testing services should be developed with relevant stakeholders, including government, official bodies, charities, industry and consumers.

LL Bodies regulating the advertising and marketing of genetic tests should develop their approaches to preventing misleading information or inappropriate targeting of consumers.

A copy of the report can be downloaded from the HGC website: (www.hgc.gov.uk): Home > Document library > More Genes Direct

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http://www.hgc.gov.uk):

Key pieces of work

The Citizens’ Inquiry into the forensic use of DNA and genetic information

Work towards a Citizens’ Inquiry into the forensic use of DNA and genetic information was initiated in April 2006 with the establishment of a working group. The Inquiry leaped forward this year after the Commission successfully secured funding for the project from the Department for Innovation, Universities and Skills’ Sciencewise programme (which also participated in the commissioning process), the Wellcome Trust and the ESRC Genomics Policy and Research Forum. The Forum and Policy, Ethics and Life Sciences Research Centre (PEALS) at the University of Newcastle became the HGC’s partners in commissioning and overseeing the Inquiry, which was facilitated by independent public dialogue experts, Vis-à-vis Research Consultancy Ltd. The complementary expertise of these partners provided the robust support and confidence needed to take a novel and innovative, participant-led approach to public engagement.

Blackburn-based Vis-à-vis were appointed to facilitate the Inquiry following an open tender process in July – August 2007. Thirty citizens from Birmingham and Glasgow, of a wide range of ages and from a mix of ethnic and socio-economic backgrounds, with varying degrees of knowledge, came together to form two panels in Birmingham and Glasgow. (The two panels were important given the difference in legal arrangements for forensic DNA databases in England and Wales, and Scotland). The citizens attended six weekly inquiry sessions during which the two panels were able to interact using video conferencing facilities. They were joined by different experts in the fields of forensics, journalism, law, genetics, social science and policing. Their discussions ranged over many issues, including human rights legislation, ownership and governance of data, storage of samples and profiles, protecting the innocent, the limitations of scientific methods and educating the public. In addition, the two panels went on regional visits: the Birmingham group arranged to meet local young people at a youth centre in Hackney, East London, and the Glasgow group visited the Scottish Parliament to debate issues relating to forensic DNA databases with MSPs from all the main parties, with the sponsorship of MSP Bashir Ahmad. Finally all the participants came together in two residential weekend sessions to agree their conclusions and draw up a report of their inquiry. With the Inquiry process complete, the HGC is very much looking forward to hearing about the citizens’ findings at its meeting in May 2008 and receiving their report which will be published in 2009.

Membership of the working group has changed over time to reflect the involvement of our partner organisations and co-funders, the DIUS Sciencewise Programme, the Wellcome Trust, the ESRC Genomics Policy and Research Forum and the Policy, Ethics and Life Sciences Research Centre (PEARLS). The membership of the group was:

LL Dr Alice Maynard (HGC – Chair)

LL Professor Stephen Bain (HGC)

LL Professor Sarah Cunningham-Burley (HGC)

LL Mrs Ros Gardner (HGC)

LL Mr Carl Reynolds (Sciencewise – participated in development of project specification)

LL Dr Peter McOwan (Sciencewise – participated in commissioning process)

LL Alison Crowther (Sciencewise – participated in commissioning process)

LL Dr Tom Wakeford (PEALS)

LL Mr Geoff Watts (co-opted)

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Key pieces of work

LL Professor Steve Yearley (ESRC Genomics Policy and Research Forum)

The Citizens’ Inquiry will contribute to a HGC report which is expected to be published in the first part of 2009 and will contain advice to ministers about the National DNA Database and the forensic use of genetic information.

Independent review of the HGC

During this year the HGC underwent an independent ‘light touch’ review. The review was commissioned jointly by the HGC’s sponsor departments, the Department of Health, the Department for Innovation, Universities and Skills (then the DTI) and the devolved administrations. Following an open public tender process, Ian Hammond Consulting Ltd were appointed to carry out the review. The review began in late 2007 and examined the Commission’s terms of reference, outputs and the context in which it operates. A large part of the review was spent conducting semi-structured interviews with key stakeholders and the consultants sought the views of over seventy stakeholders in government, public bodies, business, industry, the NHS, research councils, charities, patient groups and the media. They also observed a plenary meeting of the Commission, and a number of other meetings including meetings of monitoring groups, the Business Committee and the Consultative Panel.

The reviewers’ findings were extremely positive for the Commission. Their broad conclusion is that the HGC is a highly valuable source of independent policy advice to government, is well regarded both nationally and internationally as an asset to governance in the UK, and represents exceptional value for money. Its advisory status is seen by most as an advantage, giving the Commission flexibility and independence whilst allowing it to influence wider Government policy. The reviewers’ findings suggest that the HGC is relatively widely known by the public and well trusted. Its public engagement work is regarded as pioneering as is its commitment to openness and transparency. However, the review did make some recommendations for change, which we will be considering how best to implement in the coming year.

Following preparation of their final report the reviewers held a workshop with Commissioners, in February 2008, to discuss their findings and to give the Commissioners an opportunity to learn from the process.

Ministers accepted the main findings of the review and, in the light of these, set out revised terms of reference for the Commission which the Commission has accepted. The HGC now intends to set out a programme of work which takes full advantage of our new terms of reference and implements the review recommendations. The full report and its recommendations, and the HGC and Government responses can be viewed via the website: http://www.hgc.gov.uk/Client/document.asp?DocId=151&CAtegoryId=8

HGC and Genetic Discrimination

This year saw, at long last, the passing of the US Genetic Information Non-discrimination Act (GINA), which ensures fair access to health and life insurance by preventing the use of information about adverse genetic test results by insurers and employers. In June 2007, the Government published a consultation paper on its proposals to consolidate and modernise the UK’s anti-discrimination laws. The proposals were published in the paper: ‘A framework for fairness: proposals for a Single Equality Bill for Great Britain’.

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http://www.hgc.gov.uk/Client/document.asp?DocId=151&CAtegoryId=8

Key pieces of work

The HGC has monitored the potential for discrimination on grounds of genetic difference for a number of years, especially in relation to employment and insurance. In August, the group held a meeting with officials from the Government Equalities Office to discuss the consultation and the proposals relating to discrimination on grounds of genetic predisposition to disease.

Following a lively and informative information gathering session in September 2007 the Commission formulated its recommendations at the plenary meeting in Durham. The recommendations were informed by contributions from the HGC Consultative Panel and the Genetic Interest Group. In its response to the Government, the Commission argued for a qualified prohibition on genetic discrimination to be included as part of the proposed Single Equality Bill, drawing attention to documented cases of genetic discrimination and people’s reported fears about how information from their genetic tests might be used in future. The Commission advised that careful consideration would, however, need to be given to the way in which the prohibition was qualified, the purpose being to shift the burden of justification onto those who would treat individuals differently on genetic grounds by requiring them to demonstrate the reasonableness and proportionality of any exception they make to the general prohibition. The HGC’s response to the Discrimination Law Review can be viewed via the website:


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HGC work plan 2008/09

HGC Work Plan 2008-09

We expect 2008-09 to be a transitional year for the HGC. As well as carrying forward our ongoing work streams we will have to make key appointments – including a new Chair and a significant number of commissioners – and develop our ways of working to fit us for the changing context in which we operate.

Our work for 2008-09 will fall into the following categories:

LL Carrying forward ongoing work

LL Implementing key recommendations of the independent review

LL Responding to new developments

Carrying forward ongoing work

Following the publication of our report More Genes Direct at the end of 2007, we intend to follow through its recommendations in 2008-09. We have identified a significant consensus around the need for clear standards for genetic testing services provided directly to the public and we will be exploring with other key stakeholders how these might be developed and maintained.

We also eagerly anticipate the conclusions of our Citizens’ Inquiry into the forensic use of genetic information and the National DNA Database and hope, during 2008-09, to consider these findings and broaden the debate to a wider public with an open consultation that we expect to lead to a final report in 2009.

In responding to the Discrimination Law Review consultation on a Single Equality Bill for Great Britain, the Commission has made a strong statement about the need to protect the interest of citizens from unfair discrimination on grounds of genetic difference. We will continue to engage with Government and other relevant bodies as the proposals for legislation develop. We also intend to contribute to the planned operational review of the Concordat and Moratorium on Genetics and Insurance and develop capacity for ongoing monitoring of genetic testing in employment.

Implementing recommendations of the independent review

During 2007-08, the Commission underwent a planned review, carried out by an independent reviewer on behalf of its sponsor departments: the Department of Health, the Department of Trade and Industry (now the Department for Innovation, Universities and Skills) and the devolved administrations.

During 2008, the Commission intends to begin implementing aspects of these recommendations. In particular, we intend to:

LL Develop our horizon scanning function

LL Develop our processes for business planning and business management

LL Develop our public communication function

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HGC work plan 2008/09

A recommendation of the review was that the HGC should develop its business model to operate in relation to a 3-5 year horizon, whilst retaining flexibility to respond to rapidly emerging issues. This should include clear processes and criteria for identifying, accepting, scheduling, resourcing and delivering distinct pieces of work. The recommendations made in the review will have consequences for the future business planning and work of the HGC.

Responding to new developments

In 2008/09 we will continue to the approach that we have adopted for the last two years that places less emphasis on the production of lengthy reports and more on following up on earlier recommendations and responding to issues as they arise and are identified by our monitoring groups.

This approach proved successful last year, allowing us to respond to the accelerating growth in the market for consumer genetic testing by publishing the brief More Genes Direct follow-up report and allowing us quickly to collect information and provide advice on the new technique of non-invasive prenatal diagnosis based on analysis of cell-free fetal DNA in a pregnant woman’s circulation.

As this reporting cycle draws to a close, the House of Lords Select Committee on Science and Technology has launched an inquiry into genomic medicine, which will provide an assessment of genome technologies and their actual and potential impact on clinical practice in the post-genome era. The inquiry is likely to be wide-ranging and its findings highly significant. The HGC, like many other bodies will prepare a written memorandum of evidence and hopes to be in a position to respond to issues raised by the inquiry, by providing evidence and taking up relevant aspects of its eventual recommendations.

We will also continue to conduct our business in an open and transparent way, holding our main plenary meetings and as many other events as possible in public and in a variety of locations around the four home countries to facilitate the broadest possible access to the Commission and engagement with our work.

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Consultative Panel

Consultative Panel

In 2001, the HGC set up a Consultative Panel of people with personal experience of living with genetic conditions. The Panel is made up of around 70 people and acts as a sounding board for our reports and recommendations as well as giving us insight into the wide variety of experiences and concerns that Panel members have about genetic issues.

The Panel includes people who have experience of single gene, chromosomal or multifactorial conditions, which may have become apparent in either childhood or adulthood. Some people are affected themselves or are carriers, some have experience as a parent of a child affected by a genetic condition and some provide care or assistance for someone in their family who is affected. The panel members represent a wide range of ages and include people who live in England, Scotland, Wales and Northern Ireland.

We established the Consultative Panel because we wanted to hear from individuals directly affected by genetic conditions so that we would be better able to give informed advice and recommendations to Government. We need to learn from people who know about the reality of living with a genetic condition, for example, about their experience of deciding whether to take a genetic test or whether they have concerns about the use of test information in insurance and employment decisions. Our hope was that the Panel would let us do this in a way that was both enriching for the HGC and rewarding for those who participate.

The Panel has been a tremendously valuable resource to us. Since it was set up, members have assisted us with responses to consultations, reports, meetings and in shaping the overall work of the Commission.

The Panel provides most of its input via correspondence, with the views of Panel Members being canvassed on the content of reports we are writing or issues we are discussing. We hold an annual Consultative Panel meeting so that Panel Members can meet Commissioners to discuss issues in greater depth. The fourth Consultative Panel ‘whole day event’ was held in December 2007. Twenty-five members of the Consultative Panel and the majority of the HGC Commissioners attended the meeting. Commissioners and Panel Members were divided in to small groups to discuss three subjects, each introduced by a different HGC Commissioner, with a set of pre-arranged discussion questions as a guide. The topics were: the forensic use of genetic information, public information and education in genetics, and genetic research priorities.

The discussions were very illuminating, providing the Commission with valuable feedback and opinions from Panel members on these three topics. As well as the agenda agreed between the Panel and the Commission in advance, there was also a chance for the Commission to discuss additional topics raised by Panel Members on the day. On this occasion, the main subject raised was that of preimplantation genetic diagnosis (PGD), which allows embryos, created by IVF, to be screened for certain genetic conditions or traits. The Panel were particularly concerned about the difficulty of obtaining information about PGD services and arrangements for the funding of PGD services. These issues will be taken forward by the Commission in 2008-09.

The HGC is committed to continuing its engagement with the Consultative Panel and to do this it will continue to hold full-day Panel events.

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Business Committee and public involvement

Business Committee and Public Involvement

Membership of the Business Committee during the reporting period John Sulston (Chair) Sarah Cunningham-Burley Frances Flinter Ros Gardner Alastair Kent Rosemary Leonard Peter Sayers

The Business Committee was established to drive forward the work of the Commission. It is this group that shapes and monitors much HGC business and oversees its public engagement agenda.

The role of the Business Committee is: LL to provide a responsive executive structure so that HGC can react to developments quickly and

involve the Membership as fully as possible;

LL to liaise with lead members of Monitoring Groups between plenary meetings and continue liaison with key organisations such as the Nuffield Council on Bioethics and the Wellcome Trust;

LL to oversee external communications;

LL to oversee the media/public communication function and the content of the HGC website;

LL to provide editorial oversight of the Consultative Panel newsletter and the HGC annual report; and

LL to oversee all public engagement activities.

The Committee meets regularly throughout the year and membership entails substantial commitment on the part of Commissioners. It therefore operates a rolling membership and at some point, all Commissioners are expected to have served on the Committee.

The Committee’s lead role in involving the public in the Commission’s work includes developing new and innovative ways of engaging with the public on a large scale, overseeing website content, agreeing Plenary agendas and setting up other public events. The Committee is also involved in engaging with the public on a much smaller scale by responding directly to queries and concerns from members of the public. It continues to be at the heart of all the Commission’s work.

The latest information about the Business Committee can be found on the HGC website (www.hgc.gov.uk): Home > Our work > Business Committee

HGC website

A key role of the Business Committee is to oversee the content of the HGC website. Since its launch, the website has been an important component of the HGC public involvement strategy. This year, particular attention was paid to maintaining the most visited sections of the website to ensure it remains a valuable resource of up-to-date information about the HGC’s work. The Secretariat ensures that the diary is up to date as well as uploading agendas, minutes of meetings, consultation responses and information on all current major pieces of work for the HGC. Topical news articles are posted on the home page of the website to ensure the content remains informative and dynamic.

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Business Committee and public involvement

Visitors to the HGC web site 50,000

40,000

30,000

20,000

10,000

0 Apr–07 Jun–07 Aug–07 Oct–07 Dec–07 Feb–08

The graph shows the trend of activity to the HGC website during the period of the annual report in terms of visitors to the site over time. The data shows visitor sessions; a session starts when a visitor arrives at the site and ends when the browser is closed or after a period of inactivity.

The diary is once again the most popular page visited by guests to the HGC website and it has attracted over 100,000 hits this year. The news section of the website is also attracting public interest and this may be a reflection of the continued effort that has been invested by the HGC to respond to current issues in relation to genetics that are attracting wide media attention. The following reports have been the most popular this year: Making Babies, Public Attitudes to Human Genetic Information and Inside Information.) All HGC reports can be accessed and downloaded from the website.

Inside DNA Exhibition

As part of the Commission’s public engagement strategy, the HGC Business Committee is collaborating with the producers of Inside DNA: A Genomic Revolution. This travelling exhibition, launched in Bristol in November 2007, enables visitors to explore the role of genes and environment in human health, identity and evolution, and to consider the issues raised by human genetics. The exhibition will tour the UK for five years, travelling also to Newcastle, Glasgow and Liverpool and during its journey visitors will be given the opportunity to comment on issues that are attracting significant public attention.

The Business Committee has provided a series of background materials and questions on the themes of direct-to-consumer genetic testing, genetic discrimination and the National DNA Database. Visitors’ comments and responses are collected in the exhibition’s ‘Dialogue Zone’ and will be used to inform HGC deliberations on these topics. Over the five years questions will be added and altered to reflect current issues and HGC priorities. Quotations from the public will be placed on the home page of the HGC website and reports containing more comments and opinions expressed by visitors to the exhibition will also be published.

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HGC monitoring groups

Genetic Discrimination Membership during the reporting period John Sulston

Stephen Bain

Ros Gardner

John Harris

Michael Harrison

Iona Heath

Christopher Higgins

Alastair Kent

Rosemary Leonard

Alice Maynard

Lola Oni

Peter Sayers

Monitoring Group

The Genetic Discrimination Monitoring Group was formed in 2003 in order to oversee the HGC’s interest in the issue of genetic discrimination, particularly in the contexts of insurance and employment, and to monitor the work of other relevant bodies to ensure effective and efficient collaboration.

In April the Discrimination Monitoring Group met – following a discussion in the HGC’s plenary meeting of the US Genetic Anti-Discrimination Act (GINA), then being debated by the US Congress – to discuss the HGC likely response to the next stage of the UK Discrimination Law Review. When the Government’s consultaion on proposals for a Single Equality Bill for Great Britain was published, the group took the lead in preparing the Commission’s response. In August 2007, the group met with representatives of the Government Equalities Office together with members of the Genetics and Insurance Committee to explore the possiblity of legislation to prohibit discrimination on genetic grounds. The formal response to the consultation was agreed by the Commission following a lively discussion at the September plenary meeting. This can be found at Annex E.

The group looked into whether a list of genetic tests offered by employers should be drawn up and maintained in collaboration with the Faculty of Occupational Medicine. This collaboration is on going.

The latest information about the Discrimination Monitoring Group can be found on the HGC website (www.hgc.gov.uk): Home > Our work > Monitoring Groups > Genetic Discrimination

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Identity Testing Monitoring Group

Since 2000, the Commission has taken an interest in the forensic use of DNA databases. The Identity testing monitoring group was formed in 2004 to look at issues relating to the commercial and forensic use of DNA for the purposes of establishing the identity of an individual.

In May 2007 the identity testing monitoring group responded to the Home Office consultation on Modernising Police Powers – Review of the Police and Criminal Evidence Act (PACE) 1984. The monitoring group is uniquely placed to

Membership during the reporting period Stephen Bain (Lead)

Brenda Almond

Paul Debenham

Frances Flinter

Rosemary Leonard

Alistair Kent

Christine Patch

Peter Sayers

comment on policy aspects of the forensic use of genetic information as one of its members, Professor Stephen Bain, currently sits as a lay member on the National DNA Database Strategy Board. (A second Commissioner, Professor Sarah Cunningham-Burley, also sits on this board.) The response expressed concern about the suggestion that the threshold for requiring a suspect to provide a DNA sample might be lowered to include non-recordable offences and questioned the assumption that expansion of the database was a goal desirable in itself. The full response can be found in Annex E.

Throughout 2007-08 Members of the Identity Testing Group were closely involved in the management of the Citizens’ Inquiry into the forensic use of genetic information (see page 10 above).

The latest information about the Identity Testing Monitoring Group can be found on the HGC website (www.hgc.gov.uk): Home > Our work > Monitoring Groups > Identity Testing

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Intellectual Property Monitoring Group

The remit of the group is to identify and Membership during the reporting period monitor developments and issues relating to Chris Higgins (Lead) intellectual property and genetics and report these back to the HGC for information or to Brenda Almond

consider, as appropriate. Celia Brazell

Alastair Kent Due to developments in the area, such as BioBank, Intellectual Property policy, and John Sulston consideration of European patent rights relating

Cameron Marshall (Co-opted) to test cases on breast cancer genes the group co-opted additional members with Margaret Llewelyn (Co-opted) legal expertise.

Jim Houlihan (Co-opted)

The issues considered include: LL Ethics and gene patents

LL Should genetic material be patentable?

LL Ethical concerns

LL Application of the law

LL Competition and access to information

LL Informed consent, donor identification and confidentiality

LL Other issues: stem cells, incentives

In September, the Intellectual Property Monitoring Group held a meeting where it heard a presentation from Dr Maire Smith, Director of Technology & Product Innovation within the NHS Institute for Innovation and Improvement. Dr Smith set out the background to Government policy on innovation and intellectual property within the NHS and explained some of the challenges the National Innovation Centre (which manages both the IP and innovation within the NHS) faces. Specifically in relation to genetics, the group heard that DNA patenting had caused problems around ownership of interdependent genes and that many regulators were unaware of complex gene interactions and did not consider the impact of such interactions. Dr Smith asked if the HGC would support the work of the National Innovation Centre by updating them on genetic licensing and modifications of genetic technology that the Commission thought important. The group also discussed a consultation by the UK Patent Offices on the European IP Charter.

The group contacted the Organisation for Economic Co-operation and Development (OECD) to request a copy of the guidelines for the Licensing of Genetic Inventions that could then be circulated to key organisations around the UK.

The latest information about the Identity Testing Monitoring Group can be found on the HGC website (www.hgc.gov.uk): Home > Our work > Monitoring Groups > Intellectual Property

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Databases Monitoring Group Membership during the reporting period Sarah Cunningham-Burley (Lead)

The Group was formed in 2003 to oversee HGC Stephen Bain

activities relating to genetic research and databases, particularly the ethical, social and Celia Brazell

legal implications of large projects such as the Angus Clarke UK Biobank. The main issues in which HGC continues to take John Harris

an interest include: Lola Oni LL ensuring that consent is fully informed and

covers questions like feedback and intellectual property

LL ensuring strict confidentiality, by effective anonymisation, encryption and by controlling access by groups such as the police

LL maintaining public confidence, particularly ensuring that large research databases remain a trusted public resource

LL promoting realistic expectations of the pace of scientific and medical research and the role of partnerships between public and commercial research

The Databases monitoring group was closely involved with the open meeting held in April 2007 in conjunction with the ESRC Genomics Policy and Research Forum on ‘Generation Scotland: Genetics Research and Health’. The event, which was a great success and well attended, gave members of the public a chance to hear about, and discuss, current research with families, future prospects and wider ethical and social issues relating to research on genetics and health in Scotland (see page 6 above).

In February 2008, the group lead a response to a Ministry of Justice consultation on the use and sharing of personal information in the public and private sectors. The responses related specifically to the sharing of personal genetic information. The HGC reiterated comments made in Inside Information, that the benefits of sharing genetic information are likely to be of benefit to society, rather than to the immediate benefit of individuals providing their gentic information. The response went on to discuss the risks of sharing genetic information are similar to those regarding personal information – the risks of breaches of a duty of confidentiality, improper use of information, potentially leading to unfair discriminatory treatment of individuals or groups. However, there are some additional risks pertaining to genetic information in that sharing such information may bring harm to that individual but also biological relatives. The full response can be read in Annex E.

The latest information about the Identity Testing Monitoring Group can be found on the HGC website (www.hgc.gov.uk): Home > Our work > Monitoring Groups > Databases

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Genetic Services Monitoring Group

Membership during the reporting period Christine Patch (Lead until January 2008)

Frances Flinter (Lead from January 2008)

Stephen Bain

Angus Clarke

Paul Darragh

Paul Debenham

Rosemary Leonard

Peter Sayers

Rosalind Skinner

Pritti Mehta (Co-opted)

Prisca Middlemiss (Co-opted)

The Genetic Services Monitoring Group provides advice to the Commission on NHS and private genetic services.

The Terms of Reference for the Genetic Services Monitoring Group are:

1. To keep under review and advise the Commission of new issues and developments in the following areas, including the routine exchange of information with other relevant bodies such as the National Screening Committee, the Genetics Commissioning Advisory Group and the Human Fertilisation and Embryology Authority: LL strategic issues in the delivery of genetic services by the NHS and the private sector across the

UK, including paternity testing services

LL human genetic testing services supplied direct to the public

LL significant new and evolving genetic tests and screening and associated technologies, and

LL codes of practice and guidance on the ethical, social and scientific aspects of human genetic testing services and their effectiveness.

2. To prepare draft documents and reports for the Commission as required and contribute to the drafting and analysis of consultation documents and responses in relation to genetic services.

The monitoring group has been busy in the last twelve months and has responded to various consultations, provided advice to Government Departments and prepared the HGC’s written evidence for the House of Lords Science & Technology Committee Inquiry into Genomic Medicine, as well producing the report, More Genes Direct.

In May 2007 the group wrote to the heads of all regional genetic centres and services across the UK to ask what impact the current financial constraints in the NHS were having on genetic services. This follows on from an earlier survey carried out in 2006. The key message from the responses received was that most services were being asked to make savings; however there was no evidence that the targets are any different for genetic services than for any other clinical services.

In November 2007, the Genetic Services group led the HGC response to the MHRA consultation on the “Challenges and priorities for the next five years”. The HGC urged the MHRA to develop an appropriate regulatory framework for direct genetic tests before they are placed on the market. The HGC feels that the MHRA should urge a reassessment of the risk classification for genetic tests, which are currently covered by the EU In vitro Diagnostic Devices (IVDD) Directive but classified as ‘low risk’, and therefore exempt from independent pre-market review. For genetic tests that fall outside the IVDD Directive, the HGC feels consideration should be given to the establishment of an alternative regulatory mechanism. The full HGC response can be read in Annex E.

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At the end of 2007, the HGC published the report More Genes Direct - A report on developments in the availability, marketing and regulation of genetic tests supplied directly to the public, which members of the Genetic Services Group had been responsible for drafting (in collaboration with Stuart Hogarth, of the University of Cambridge). Details of the recommendations made by the HGC in this report can be read in the ‘key pieces of work’ section of this report.

In February 2008 the HGC was asked by the Department of Health to gather information and provide advice about likely concerns relating to the introduction of a new technique in non-invasive prenatal diagnosis using cell-free fetal DNA recovered from the maternal circulation. The Commission heard from three speakers on this issue at its February plenary and deliberated carefully before advising that the technique offered a promising diagnostic strategy for some specific conditions. However, the Commission did not feel that free fetal DNA analysis had been sufficiently evaluated as a test and therefore its introduction as a clinical service in some centres was premature. The HGC was also concerned about the potential for this technique to be marketed directly to the public for nonmedical purposes such as sex selection. The HGC wrote to the Director General of Research and Development recommending that priority funding is given to the evaluation of the technique in antenatal testing for genetic conditions. The Commission recognised the great value to patients of having an early diagnosis and non-invasive tests and therefore thought that the technique should complete a programme of systematic quality evaluation with research ethics committee approval to support its wider introduction as a clinical service. Relevant correspondence between the HGC and Department of Health can be found in Annex E.

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Appendix A – HGC Membership, April 2007 – March 2008

Chair (Until September 2007) Baroness Helena Kennedy Barrister and broadcaster

Vice-Chair (Acting-Chair from September 2007) Sir John Sulston Former Director of the Wellcome Trust Sanger Institute, Hinxton, Cambridge

Members Professor Brenda Almond Professor of Moral & Social Philosophy Hull University

Professor Stephen Bain Professor of Medicine (Diabetes), Swansea NHS Trust

Dr Celia Brazell Director of R&D Policy, GlaxoSmithKline

Professor Sarah Cunningham-Burley Professor of Medical and Family Sociology and co-director at the Centre for Research on Families and Relationships, University of Edinburgh

Dr Paul Debenham Director, Life Sciences, LGC Limited

Dr Frances Flinter Clinical Director and Consultant Clinical Geneticist, Genetics Centre. Guy’s and St Thomas’ Hospital Trust

Ms Ros Gardner Ms Gardner runs a consultancy specialising in customer care excellence and complaint handling

Professor John Harris Sir David Alliance Professor of Bioethics, University of Manchester

Mr Michael Harrison Barrister

Ms Shirley Harrison (Until January 2008) Chair of Human Fertilisation and Embryology Authority and Human Tissue Authority

Dr Iona Heath (Until August 2007) General Practitioner, London

Professor Christopher Higgins Vice Chancellor of Durham University

Professor Lisa Jardine (from January 2008) Chair of Human Fertilisation and Embryology Authority

Mr Alastair Kent Director, Genetics Interest Group

Dr Rosemary Leonard GP and resident GP on BBC1’s Breakfast News

Ms Alice Maynard Managing Director of Future Inclusion Limited

Ms Lola Oni Professional Services Manager Heamoglobinopathies, Brent Sickle Cell/ Thalassaemia Centre

Dr Christine Patch Genetic Counsellor Manager, Guys and St Thomas’ NHS Trust

Mr Peter Sayers Former Chair of the Telecommunications Advisory Panel

Representatives of the Chief Medical Officers Each of the four UK Chief Medical Officers are able to participate in the HGC or nominate a representative with observer status.

Dr Paul Darragh (Northern Ireland) Consultant, Public Health Medicine Eastern Health & Social Services Board

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Professor Angus Clarke (Wales) Honorary Consultant in Clinical Genetics, University of Wales College of Medicine

Dr Anita Thomas (England)

Dr Rosalind Skinner (Scotland) Principal Medical Officer of Public Health Medical Division, SEHD

Co-opted Members Professor Patrick Morrision (Discrimination Monitoring Group) Consultant in Clinical Genetics, Belfast City Hospital Trust

Mr Geoff Watts (Citizens’ Inquiry Working Group) Journalist and presenter of BBC Radio 4’s Leading Edge

Ms Prisca Middlemiss (Genetic Services Monitoring Goup) Information officer – rare chromosome disorder support group and journalist

Dr Pritti Mehta (Genetic Services Monitoring Goup) Equity and access programme manager, Genetics Interest Group

Secretariat Dr Peter Mills, Secretary Miss Sarah Connelly (Until August 2007) Mrs Margaret Straughan Miss Joanna Edwards Mr Chris Lucas (Until September 2007) Miss Jeanne Buys (From September 2007 to January 2008) Ms Nadia Mahomed (From January 2008) Mr Pat Wilson (Media Advisor)

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Appendix B: How HGC works (role, terms of reference, methods of working and code of practice)

The HGC’s Role

The Human Genetics Commission (HGC) is the UK Government’s advisory body on how new developments in human genetics will impact on people and on health care. Its remit is to give Ministers strategic advice on the “big picture” of human genetics, with a particular focus on social and ethical issues.

The HGC was established in 1999 following the UK Government’s comprehensive review of the regulatory and advisory framework for biotechnology. Its role should also be seen in the context of other advisory and regulatory bodies in the framework for human genetics. HGC does not direct these bodies or interfere with their lines of accountability, but works with them and help form links between them. HGC reports to Health and Science Ministers and works within the context of devolution settlements for Scotland, Wales and Northern Ireland. Government policy on human genetics is generally developed on a UK basis, but responsibility for National Health Service (NHS) genetics services is the responsibility of each devolved administration.

Terms of Reference

LL To analyse current and potential developments in human genetics and advise Ministers on:

− their likely impact on human health and healthcare;

− their social, ethical, legal and economic implications.

LL To advise on strategic priorities in the delivery of genetic services by the NHS.

LL To advise on strategic priorities for research.

LL To develop and implement a strategy to involve and consult the public and other stakeholders and encourage debate on the development and use of human genetic technologies and advise on ways of increasing public knowledge and understanding.

LL To co-ordinate and exchange information with relevant bodies in order to:

− identify and advise on the effectiveness of existing guidance and of the regulatory and advisory framework as a whole, taking account of European and global dimensions;

− look at the lessons learnt from individual cases requiring regulatory decision to build up a wider picture.

LL To consider specific issues related to human genetics and related technologies as requested by Ministers.

LL To operate in accordance with best practice for public bodies with regard to openness, transparency, accessibility, timeliness and exchange of information.

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Ways of working

A constant theme and priority within the Commission’s work is actively to seek input from the public and other stakeholders and this involves a variety of consultation exercises and open meetings.

We work in accordance with best practice principles on openness and transparency. We also exchange information with other bodies in the advisory and regulatory framework, including meetings at secretariat level and between chairs.

We have established Monitoring Groups which involve both Members and external participants, and which may co-opt input from individuals. We use email and telephone conferencing when this is useful, particularly for the work of the Monitoring Groups described below.

The HGC may commission work from individuals or organisations on a consultancy basis.

How we organise our work

The full Commission meets around four times a year, in different parts of the UK. We usually meet over two days, holding an information-gathering session, when we invite a number of people to talk to us about a particular issue, on one day and the plenary meeting on the other.

In 2003, we set up a more flexible structure for the way the Commission carries out its work. We agreed to continue to focus the main areas of work in task-orientated working groups. We also identified HGC Members to lead on a number of key issues and who work with Monitoring Groups to keep a watching brief on these areas and keep them high on our agenda.

Lead Members are asked to:

LL keep HGC up to date on developments and make sure the issue remains on HGC’s agenda

LL advise on the need for meetings of the Monitoring Group and suggest specific pieces of work as needed

LL lead on liaising with other relevant organisations and co-ordinating responses to consultations

The following Monitoring Groups operated in 2007/08: LL Genetic Discrimination Monitoring Group

LL Intellectual Property Monitoring Group

LL Research Databases Monitoring Group

LL Identity Testing Monitoring Group

LL Genetic Services Monitoring Group

The work of the Monitoring Groups is described in the body of this report.

The Business Committee continued with its existing role to:

LL Provide a more responsive executive structure so that HGC can react to developments quickly and involve the Membership as fully as possible.

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LL Liaise with lead members between plenary meetings and with key organisations such as Nuffield and the Wellcome Trust

LL Have formal responsibility for all HGC public involvement work

LL Oversee external communications:

− press office

− website

− newsletter/annual report

− editorial oversight of briefing notes

Working Groups

The Commission decided that our Working Groups were very good models for taking forward large pieces of work and that we would continue to set up a specific group to deal with an individual area of work. This year we had two working groups overseeing the arrangements for the HGC’s Citizens’ Inquiry into the forensic use of DNA and genetic information and a group producing the report More Genes Direct. More information can be found in the main text.

Code of Practice for Members

The HGC Code of Practice was prepared in line with Government policy on standards in public life, openness and accountability, full details are available on the HGC website: www.hgc.gov.uk. The Chair, Vice-Chair, Members and Representatives of the Chief Medical Officers (collectively referred to as “Members”) are expected to follow it in carrying out duties associated with HGC. Co-opted members are also expected to follow the Code as it applies to the work they do on behalf of HGC.

A copy of the Code of Practice can be found on the HGC website at: http://www.hgc.gov.uk/client/content.asp?contentid=5

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http://www.hgc.gov.uk/client/content.asp?contentid=5

Appendix C: Register of members interests (This register provides details in respect of all HGC members for the period April 2007 to April 2008)

Professor Brenda Almond Remunerated employment, office, profession, etc Author, editor, lecturer (occasional, free-lance).

Miscellaneous and unremunerated interests President of Philosophical Society of England Vice-president of Society for Applied Philosophy Overseas Member of Austrian Academy of Sciences Member of the Executive Committee and Council of the Royal Institute of Philosophy Member of Societas Ethica (European Society for Ethical Research).

Professor Stephen Bain Remunerated employment, office, profession, etc Reader in Diabetic Medicine, University of Birmingham & Honorary Consultant Physician, Birmingham Heartlands Hospital, Birmingham, UK

Dr Bain has also received lecture fees from Aventis, Boehringer Ingelheim, Eli Lilly, GlaxoSmithKline, Merck Sharp Dome, Novartis, Novo Nordisk, Pfizer, Servier & Takeda. He has been awarded research & clinical grants by Aventis, Eli Lilly, Novo Nordisk & Sequana Inc.

Miscellaneous and unremunerated interests Member, West Midlands Multi Research Ethics Committee Chairman of the Pan-Birmingham Diabetes Advisory Group and the East Birmingham and Solihull Local Diabetes Services Advisory Groups.

Dr Celia Brazell Remunerated employment, office, profession, etc Director R & D Policy, Office of the Chief Medical Officer, GlaxoSmithKline Research and Development

Registrable shareholdings GlaxoSmithKline

Professor Sarah Cunningham-Burley Remunerated employment, office, profession, etc Professor Medical and family Sociology, Division of Community Health Sciences (Public Health Sciences)

Co-Director, Centre for Research on Families and Relationships, University of Edinburgh

Salary sourced from Scottish Higher Education Funding Council

Recipient of research funds from the Economic and Social Research Council and Scottish Executive, Office of the Chief Researcher and Education Department

Previously also Joseph Rowntree Foundation, Health Scotland, Chief Scientist Office (Scottish Executive)

Occasional remuneration in connection with professional services (eg examining, publications research consultancies)

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Miscellaneous and unremunerated interests Member of Scientific Committee for General Scotland Member of the British Sociological Association Member of the Society for Social Medicine Trustee, Edinburgh Rudolf Steiner School, Signatory, Charter 88

Professor Angus Clarke Remunerated employment, office, profession, etc Professor of Clinical Genetics, Department of Medical Genetics, Cardiff University. Salary sourced from NHS (60%) and HEFC (40%) Recipient of research funds from The Wellcome Trust, Rett Syndrome Association UK, Jeans 4 Genes and the ESRC. Author and editor of several books.

Miscellaneous and unremunerated interests: Fellowships of Royal College of (1) Physicians of London and (2) Paediatrics and Child Health. Membership of: British Medical Association; NHS Consultants’ Association; Clinical Genetics Society; British Society of Human Genetics; European Society of Human Genetics; European Society for the Philosophy of Medicine and Health Care. Chair, Medical Advisory Board, Ectodermal Dysplasia Society. Medical Advisor, Rett Syndrome Association UK. and Rett Syndrome Association Scotland. Member, Editorial Boards of: Communication and Medicine, Genomic Medicine. Supporter of Greenpeace; Religious Society of Friends; Oxfam; Christian Aid, Amnesty International.

Dr Paul Darragh Remunerated employment, office, profession, etc Consultant in Public Health Medicine, Eastern Health and Social Services Board Non-Executive Member of Health Protection Agency Board

Miscellaneous and Unremunerated interest Director of Townsend Enterprise Park – training and workspace letter Chairman of Townsend Social Outreach Centre – community development, youth work Dun’s Librarian – Royal College of Physicians (RCPI), Ireland Member of Council RCPI

Dr Paul Debenham Remunerated employment, office, profession, etc Director, Technology & Innovation, LGC Limited.

Registrable shareholdings Astra Zeneca Syngenta

Dr Frances Flinter Remunerated employment, office, profession, etc Consultant in Clinical Genetics and Clinical Director of Children’s Services and Genetics, Guy’s & St Thomas’ NHS Foundation Trust

Miscellaneous and unremunerated interests Member, Clinical Genetics Society Member, British Society of Human Genetics Member, Evelina Children’s Hospital Appeal Committee

Mrs Ros Gardner Remunerated employment, office, profession, etc Managing Director of Ros Gardner Associates Limited Member of the School Teachers Review Body Council member of the Nursing and Midwifery Council Independent Complaints Mediator of the Criminal Records Bureau Deputy Independent Complaints Examiner for the Dispute Service

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Miscellaneous and unremunerated interests Trustee of Alcohol Services to the Community Lay Assessor, NHS Appointments Commission Member of the British & Irish Ombudsmens Association Adviser, Thames Water Customer Assistance Panel Founder Director of the Professional Speakers Association Member, National Consumer Group Member, Vice President and President of the Society of Consumer affairs Professionals

Professor John Harris Remunerated employment, office, profession, etc Sir David Alliance Professor of Bioethics, University of Manchester Visiting Professor of Philosophy, London School of Economics & Political Science His research is currently supported by the European Commission, the British Embassy, Washington and the Greenwall Foundation Ethical Consultant to Virgin Health Bank and Chair of one of their Ethics Advisory Boards Since approximately September 2006 he has acted as an independent advisor to Cells Centre Ltd to provide an appreciation of the likely impact that the company will have within the NHS and public arena and on other matters connected with ethics and policy dimensions of its activities.

Mr Michael Harrison Remunerated employment, office, profession, etc Barrister, London

Miscellaneous and unremunerated interests Member, Gene Therapy Advisory Committee

Dr Iona Heath Remunerated employment, office, profession etc General Practitioner, Kentish Town, London

Miscellaneous and unremunerated interests Nationally elected member of the council of the Royal College of General Practitioners Chair of the Ethics Committee of the British Medical Journal Member of Medact and British Medical Association Fellow of the Royal Society of Arts Supporter of Oxfam, Amnesty International, Friends of the Earth, Medical Foundation for the Victims of Torture, Centre for Young Musicians, Little Sparta Trust

Professor Christopher Higgins Remunerated employment, office, profession, etc Director, Medical Research Council, UK: Head of Division, Imperial College London Chair, Scientific Advisory Board, Microscience

Miscellaneous and unremunerated interests Chair, Spongiform Encephalopathy Advisory Committee Executive Council, Association of Medical Research Charities

Baroness Helena Kennedy QC Remunerated employment, office, profession, etc Board Member Independent Newspapers Member of the Bar

Miscellaneous and unremunerated interests Advisory Council Member of the Foreign Policy Centre Bencher of Gray’s Inn Chambers Board Member, British Museum Board Member, Tablet Trust Chair of Arts and Business Chair of the Board of Governors, Atlantic College Chair of Standing Committee for Youth Justice Fellow of the Royal Society of Arts Fellow of the City and Guilds Institute Fellow of the Institute of Advanced Legal Studies

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Member of Academie Universalle des Cultures Member of Foreign Policy Centre Advisory Council Member of the External Advisory Council, World Bank Institute Patron, Charter 88 Patron, Liberty Patron, Howard League Reform Patron, Poets and the City President, Civil Liberties Trust President of The School of Oriental and African Studies Trustee, KPMG Charitable Trust Trustee, Media Standards Trust Vice-President, Association of Woman Barristers Vice-President, Haldane Society

Political activity Labour Peer

Mr Alastair Kent Remunerated employment, office, profession, etc Director, Genetic Interest Group Member, GSK Health Advisory Board

Miscellaneous & unremunerated interests Chair, P3G Ethics, Governance and Public Engagement Working Group Member, Joint Committee on Medical Genetics Member, Association of British Insurers (ABI) Genetics Committee Member, Genetic Commissioning Advisory Group (DH) Member, Genetics Commissioning Group (London NHS) Member, Progress Educational Trust Advisory Committee

Dr Rosemary Leonard OBE Remunerated employment, office, profession, etc NHS General Practitioner Paid Retainer Express Newspapers and the BBC Regular contributor to Woman and Home magazine (IPC Magazines) and the Tesco Healthy Living Club Magazine

Ms Alice Maynard Remunerated employment, office, profession, etc Managing Director of Future Inclusion Ltd. Member of the Eastern Region Committee of Jephson Housing Association

Miscellaneous and unremunerated interests Company Secretary, Equal Ability CIC Associate of the Employers’ Forum on Disability Executive Committee Member of Milton Keynes Racial Equality Council Member of the British Council of Disabled People Member of Greater London Action on Disability Member of Milton Keynes Centre for Integrated Living Member of RADAR Advisory Group Member, JMU Access Partnership Advisory Group Member, Milton Keynes Common Purpose Supporter of Friends of the Earth, Amnesty International, ActionAid, Shelter, WaterAid, NSPCC and Ethopiaid.

Ms Lola Oni Remunerated employment, office, profession etc Professional Services Manager Haemoglobinopathies, Brent Sickle Cell/Thalassaemia Centre, NW London Hospitals NHS Trust

Miscellaneous and unremunerated interests Member of Nigerian Leadership Initiative Member of NHS Sickle Cell and Thalassaemia National Steering Group Secretary to the First Martin Luther King Twelve Trustee of the Martin Luther King Memorial Trust

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Dr Christine Patch Remunerated employment, office, profession, etc Senior Research Fellow, School of Medicine University of Southampton funded by The Health Foundation. Honorary contract Specialist Nurse/Genetic Counsellor Wessex Clinical Genetic Service. Postgraduate Student, School of Medicine University of Southampton (funded by NHS R&D training fellowship)

Miscellaneous and unremunerated interests Joint chair of the Ethics and Public Policy Committee International Society of Nurses in Genetics. Member of: British Society for Human Genetics, Association of Genetic Nurses and Counsellors, British Association for the Study of the Liver, Royal College of Nursing.

Mr Peter Sayers Remunerated employment, office, profession, etc Director, IDM Ltd Non-Executive Director NHS Cheltenham and Tewkesbury Primary Care Trust Miscellaneous and unremunerated interests Director, New Harmony Press Director, Accessible Globe International Ltd Company Secretary, Salt Marketing Ltd

Dr Rosalind Skinner Remunerated employment, office, profession, etc Principal Medical Officer in the Scottish Executive Health Department

Miscellaneous and unremunerated interests Former clinical geneticist in the University of Edinburgh

Sir John Sulston Remunerated employment, office, profession, etc None, except for occasional freelance payments

Miscellaneous and unremunerated interests Supporter of Oxfam, Amnesty, Greenpeace.

Dr Anita Thomas Remunerated employment, office, profession, etc

Miscellaneous and unremunerated interests

Co-opted Members:

Dr Pritti Mehta Remunerated employment, office, profession. etc. Equity and Access Programme Manager, Genetic Interest Group

Miscellaneous and unremunerated interests Member, UK Genetic Testing Network Gene Dossier and Directory Working Group Member, NHS and Sickle Cell and Thalassaemia Screening Programme information for Users and Professionals Subgroup.

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Appendix D: Finance

The Human Genetics Commission is funded by the Department of Health, the Office of Science and Technology and the Devolved Administrations.

The majority of the HGC’s operating budget (running costs) was spent on working in an open manner and public engagement, with roughly: LL £67,292.84 was spent on plenary meetings, monitoring groups, information gathering sessions and

the Consultative Panel;

LL £14,765.13 was spent on external communications, including the press office, the PR function, and the website; and

LL £8,456.64 was spent on printing and publishing.

Fees are payable to Commissioners at a rate of £148.59 per meeting, £180.40 per meeting for the Chair, and Commissioners are reimbursed for all reasonable travelling expenses.

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Appendix E: HGC statements, consultation responses and other correspondence

HGC response to the Home Office consultation on ‘Modernising Police Powers – Review of the Police and Criminal Evidence Act (PACE) 1984’

Mr Alan Brown Home Office Police Leadership and Powers Unit 4th Floor Peel 2 Marsham Street London SW1P 4DF

30th May 2007

Dear Mr Brown

Human Genetics Commission response to ‘Modernising Police Powers – Review of the Police and Criminal Evidence Act (PACE) 1984 Consultation Paper.’

I would like to begin by saying that Members of the Human Genetics Commission (HGC) were grateful for the opportunity to comment on the Home Office’s consultation on the review of the Police and Criminal Evidence Act 1984. As Chair of the HGC’s Identity Testing Monitoring Group, I have been asked to respond to the consultation on behalf of my fellow Commissioners.

The HGC is the Government’s advisory body on current and potential developments in human genetics and the likely impact on human health and healthcare as well as the social, ethical, legal and economic implications. The Commission is uniquely placed to comment on policy aspects of the forensic use of genetic information as, since 2002, it has contributed lay representation to the Home Office’s National DNA Database Strategy Board – I myself am one of two HGC members currently sitting on the Board. The Commission was also instrumental in the setting up of the new Ethics Group of the National DNA Database, for which the Home Office is currently recruiting. Given our particular interest in genetics, our response will focus on policy ideas contained in the consultation where DNA is a factor.

Before I go on to make specific points relating to the suggestions and proposal ideas included in the document, I would like to make one general comment about the consultation. In the past, the Commission has expressed its concern that much of the legislation relating to DNA has been introduced in a piece-meal fashion with little public debate and, in our view, the language adopted in this document does little to alter that perception. The language used is often ambiguous, for example, use of the term ‘etc.’ on paragraphs 3.2 and 3.3 is unclear and potentially misleading. Commission members took “fingerprints, etc” to refer to the list of establishing identity listed previously, which included DNA samples. However, we had first to seek clarification from Home Office officials to confirm that this was the case. In our view, issues concerning changes to police powers contained in the Police and Criminal Evidence Act are too important to the lives and liberties of UK citizens to consult publicly upon them using unclear and/or abbreviated language.

I would now like to turn to paragraphs 3.32 through to 3.36, which allude to a view that current thresholds for the taking and retaining of genetic samples without consent, i.e. only in relation to

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recordable offences, are too stringent and therefore problematic. The suggestion being that seeking consent for non-recordable offences takes too much time, thus undermining the police’s ability to detect “existing and future offending” and therefore to protect the public. Paragraph 3.34 asks whether there is scope to “remove unnecessary operational constraints on the extent to which police are able to use fingerprints, etc. to prevent, detect and investigate” crime. There are several points we would like to make in response.

Firstly, on the question of whether the threshold should be lowered to include non-recordable offences, we would point to the expansion in recent years of the list of recordable offences by which fingerprints and DNA samples can be legally taken. Some of these new recordable offences could be considered to relate to low-level crime, for example the additions, in 2003, of begging and taxi touting. To lower the threshold even further would hugely expand police powers to take samples and, as a consequence, the National DNA Database. As paragraph 3.37 correctly points out, this would have the effect of lumping together the genetic samples of very low-level criminal offenders, with offenders of serious crimes.

Second, one of the justifications for expansion contained in the document – which again is alluded to rather than made explicit – is that it might deter young people from committing minor offences in the first place and further, deter young offenders from moving on to more serious criminal activities in later life. This argument may have merit but if it were to be used to justify the massive expansion of police powers and also the National DNA Database, we would expect the Home Office to produce robust evidence that it would indeed represent a powerful, new deterrent.

The National DNA Database is undoubtedly an important criminal intelligence tool and we feel strongly that it is time for careful thought and reflection about current law and policy in relation to it. Whilst we recognise that the consultation was published to encourage ideas rather than make specific policy proposals, we find it concerning that the only two objections to expansion posed in the document relate to safeguarding persons guilty of committing minor crimes and to the possible practical problems involved. Paragraph 3.36 asks if existing equipment and technology could accommodate the large amount of new genetic information, which would be collected and retained and then goes on to answer that question by concluding that if the technology is not sufficiently advanced now, it will be in the near future. This reads more like a policy proposal than a question for open debate.

The current ability of the police to retain DNA samples from persons charged in respect of a recordable offence when they are subsequently found innocent of that offence in a court of law – subject the discretion of the local Chief Police Constable – may mean that a person innocent of committing any crime may also have their sample used as part of a speculative search. This will also be true of a person who had volunteered a genetic sample as part of a large police investigation for the purposes of elimination. Given that the removal of samples from the database is not automatically permitted in circumstances such as a failure to convict, if the Home Office is proposing to widen the scope of people from which samples can be taken and stored without consent, this should be clearly set out in a traditional public consultation document. The HGC is not convinced that the best way to increase the efficiency of the database is a rush to populate it in this way – there may be better, more effective options to consider. For example, the proposal could be modified so that a person arrested but not convicted of a crime could have their sample removed from the database. Further, the Act could be amended to the effect that a person who commits a minor offence might have their DNA sample destroyed if they do not re-offend for a set period of time.

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I would like to turn now to the discussion concerning the practice of street bail. Whilst we would not in principle oppose the roll-out of the use of street bail if it was shown to enable officers to better conduct investigations and to ease pressure on custody accommodation within police stations, we would query the contention that the collection of DNA samples from suspects in these conditions would lead to faster identification of a suspect. Our understanding is that current technology does not allow for a 4-hour turn around of DNA processing in routine operations. Indeed, this would only be possible if police officers and investigators had immediate access to high-speed transport or laboratory facilities. Therefore, any justification of street bail based upon cost savings associated with rapid identification of suspects is flawed.

At a time where the Home Office is increasing ethical oversight of the National DNA Database by inviting the HGC to comment on operational matters and setting up the new Ethics Group, this consultation seems worryingly devoid of ethical, legal and social issues raised by an expansion to the database. A crucial element of the advice that we give to Government is reflecting public views and concerns on particular genetic topics. To this end, one of our imminent projects is a public consultation using a Citizens’ Inquiry to look at the use of genetics in criminal investigations. The public are supportive of DNA use but we are keen to examine more closely the expansion of the National Database in recent years and the further uses to which DNA might be put. Evidence will be presented by police and scientists and we envisage a wholly deliberative event, producing invaluable insights and outcomes in an area where the public desperately needs to be drawn in. A serious process where participants are presented with comprehensive information relating to the National DNA Database, including information about its application as a criminal intelligence tool, which will allow them to consider the key social and ethical issues involved. The findings from the Inquiry will of course be shared with Home Office ministers.

I hope you find these comments helpful. I requested that the review was included on the agenda of the Strategy Board meeting this month and the outcomes of that discussion will no doubt be shared with you via officials. My colleagues and I would be extremely grateful if you could keep us informed of progress in this area.

Yours sincerely

Professor Stephen Bain Chair, Identity Testing Monitoring Group Human Genetics Commission

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HGC response to the HFEA consultation on the ethical and social implications of creating human/animal embryos in research

Ms Shirley Harrison Chair, Human Fertilisation and Embryology Authority 21 Bloomsbury Street London WC1B 3HF 17th July 2007

Dear Shirley

Human Genetics Commission response to HFEA consultation on hybrids

Thank you for inviting the Human Genetics Commission’s views on the HFEA’s consultation on the ethical and social implications of creating human/animal embryos in research. The role of the Human Genetics Commission is to advise Government on new developments in human genetics and their influence on individual lives, with a particular focus on social, ethical and legal implications. Many of the Commission’s stakeholders, including many members of the Commission’s Consultative Panel, have a strong interest in genetic disease and therefore in the therapeutic research possibilities offered by embryo research, including research involving cytoplasmic hybrid embryos.

Although I am aware that you have requested that responses be submitted online, having regard to the Memorandum of Understanding which exists between HFEA and HGC, I hope that the additional information in this written response will be helpful in developing your conclusions.

Firstly, I would like to congratulate the HFEA for the steps it has taken to engage the public in the debate over new developments in research embryology through a very clear consultation document and other public engagement activities. As you may be aware, the HGC had a general discussion on the issue of ‘cytoplasmic hybrids’ at its February 2007 plenary meeting. At the conclusion of this discussion, the Commission was united in feeling very strongly that public engagement is highly important to generate acceptability and confidence in research in this area in the UK. Researchers and regulators have a clear duty to engage with the public, whose understanding and acceptability are vital determinants of the context in which biomedical research can be encouraged and pursued, and the benefits of that research realised. Remoteness and high-handedness create public anxiety, whereas communication and familiarity with the issues reassure. It is the belief of the HGC that the public can understand what is at stake if given suitable opportunity and we are very pleased that this public consultation has gone ahead despite pressures to reach a more expeditious licensing decision. Our only concern, as always, is the way in which the findings of the consultation may be used, by HFEA and others, to claim a mandate for a particular policy. We feel that this is a particular menace where respondents are offered the opportunity to give unsupported affirmative or negative responses. Recalling unfortunate criticism of previous exercises, we trust that on this occasion the HFEA will strive to avoid the potential for misunderstanding by not seeking to base any conclusions on a quantitative presentation of its findings.

In our discussion, Commissioners were not in unison in their analysis of the moral issues, although the majority of their views harmonised around support for research using human-animal inter-species embryos where existing safeguards were in place. In other words, they concluded that as long as embryos were not allowed to develop beyond an early stage (i.e. 14 days) and as long as there was a clear separation between research and treatment (so that no research embryo could

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ever be transferred to a woman or otherwise brought to birth) then any remaining ethical objections to using such embryos, by whatever means they were created or using whatever materials, would be considerably diminished.. Commissioners noted that a moral decision by society has already established the acceptability of the controlled use of embryos in research and the HGC considers that the strong regulatory framework that already exists should extend to cover all embryos that have significant human components or traits. (The Commission did not address, specifically, the issue of what human elements would be significant in this respect: a wholly or partially expressed human genome, for instance, might be thought significant, whereas minor transgenic elements would not.)

Commissioners differed in their reasons for supporting a version of this position: some thought that it was a prudent approach in view of the level of evident concern from some sections of the public; among their concerns was the potential for loss of support for important biomedical research more generally if the pace of new initiatives outstripped public acceptance. Many Commissioners stated explicitly that they saw no genuine objections to research using hybrid embryos beyond those which had already been confronted in accepting human embryo research in general (i.e. if the human embryo deserves the highest consideration, then any less-than-fully-human embryo cannot deserve higher consideration). For others, whilst this argument is persuasive with regard to the use of embryos, additional argument was required to address fully the different moral issues concerned with creating such embryos in the first place.

Whilst the conclusions of the Commission were, on balance, that the creation of human-animal inter- species embryos should not be prohibited and, furthermore, did not require any further controls in addition to those around human embryo research, they recognised that there were those, including many who approach the question from a coherent and principled position, who might see it otherwise. It was in view of this that the Commission’s overall conclusion was to support the need for consultation, in order to allow these views to be discovered and examined.

Finally, mindful of the Government’s current proposals for revised framework legislation around fertility treatment and human embryo research, the Commission hopes that the apparent lack of clarity about what is covered by current legal provisions, which is clearly not conducive to effective regulation, will be sensitively and unambiguously resolved in new legislation.

Yours sincerely

Helena Kennedy, Q.C. Chair, Human Genetics Commission

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HGC response to the Government’s Discrimination Law Review consultation, A Framework of Fairness: Proposals for a Single Equality Bill for Great Britain

Kate Hepher Discrimination Law Review Team Women and Equalities Unit Department for Communities and Local Government Ashdown House 123 Victoria Street London SW1E 6DE 14 September 2007

Dear Ms Hepher

Human Genetics Commission response to the Discrimination Law Review consultation, A Framework for Fairness: Proposals for a Single Equality Bill for Great Britain

The Human Genetics Commission (HGC) is grateful for the opportunity to contribute to the Discrimination Law Review and to comment on the proposals for a Single Equality Act. We are especially grateful for the grant of an extension to the consultation period which allowed us to consider this response carefully at our plenary meeting on 12 September. A podcast of this discussion will be available on HGC website.1

The role of the HGC is to advise Government on new developments in human genetics and their influence on individual lives, with a particular focus on social, ethical and legal implications. Understanding of genetics and the technologies used to obtain and process genetic information are developing areas; the opportunities for harm will undoubtedly increase in measure with the opportunities for benefit to which they give rise. We have consistently advised that provision needs to be made for the management of these harms and benefits before they are realised. As a forward looking Commission we are encouraged by the spirit of Ruth Kelly’s assertion in the introduction to the consultation document (A framework for Fairness: Proposals for a Single Equality Bill for Great Britain, p.7.) that “we want our institutions to work in a way which prevents unfairness happening in the first place, rather than addressing it after the event”.

An important theme of the Commission’s work since its establishment in 1999 has been concerned with the issue of genetics and discrimination, and the Commission maintains a dedicated Genetic Discrimination Monitoring Group which meets regularly to examine, discuss and report on the many aspects of this issue. In particular the Commission’s work, along with that of the Genetics and Insurance Committee (GAIC), has led to the establishment and maintenance of the Concordat and Moratorium on genetics and insurance by which insurers have agreed not to use information from the results of genetic tests in calculating insurance premiums (except in certain very high-value cases where the tests are approved by GAIC2). The Commission has also carried out significant work in relation to genetics and employment, working with the Information Commissioner’s Office and the Faculty of Occupational Medicine to ensure that information from genetic tests is not used in a discriminatory manner in an employment context. The Commission has also supported the initiatives

1 www.hgc.gov.uk. The podcasts can be found under the appropriate pleanary meeting by following the following path: HGC home>our work>plenary meetings>2007>12 September 2007.

2 Currently only tests for Huntington’s disease in relation to life insurance policies valued in excess of £500,000.

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in the 2003 Genetics White Paper Our Inheritance, Our Future, realising the potential of genetics in the NHS to increase knowledge about, and access to, effective genetic services for those affected by, or at risk of, genetic disease.

Additionally, many of the Commission’s stakeholders, including many members of the Commission’s Consultative Panel, have a strong interest in genetic disease and discrimination, either as a result of being affected by a disability, being diagnosed as having a genetic variation that might lead or predispose them to being affected, or as carers or family members of those affected by genetic disease. The unique contribution of the Consultative panel has deepened the Commission’s understanding of the threats that may exist to the rights and interests of people affected by genetic conditions and the Commission has worked consistently to ensure that these rights and interests are properly recognised.

In view of its remit, the HGC’s response will be restricted to addressing the need to extend the grounds on which discrimination is prohibited to include certain genetic characteristics. In particular, the response will address the question at paragraph 8.31 of the consultation document, namely: “Do you agree that there is no current justification for legislating to prohibit genetic predisposition discrimination?”

The arguments put forward in the consultation document

We congratulate the Department of Communities and Local Government on producing a thoughtful, well-written and accessible consultation document. The section of Chapter 8 of Part 3 headed ‘Genetic Predisposition’ contains three objections to the introduction of a specific prohibition of discrimination on the grounds of genetic predisposition, namely: LL that there are no actual harms to be addressed,

LL that legislating might produce collateral harms, and

LL that there are more appropriate ways to address possible genetic discrimination than through legislation.

We will comment on these in turn.

(i) Evidence of genetic discrimination

The first objection points to an absence of evidence that genetic discrimination is a “real problem experienced by individuals who share a particular characteristic” (para.8.1). We have looked for evidence in three areas: LL where people may have been required to disclose sensitive personal information about family

history or about genetic tests and the results of those tests;

LL where people may have been coerced (or induced or pressured to an unacceptable degree) to take genetic tests; and

LL where people may have been discouraged from taking medically relevant tests, or participating in potentially beneficial research, from fear that the results of genetic tests may be used to their disadvantage.

On two occasions, we have canvassed our consultative panel of people affected (either personally, through their family, or as carers) by genetic conditions. Although this is a limited sample (<100 people) there is already evidence of discrimination on genetic grounds (see, for example, Appendix, part 1, bullets 1 to 3). We have also found evidence that discriminatory treatment also arises from a

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confused perception of genetic conditions or from lack of accurate information (see Appendix, part 1, fourth bullet). However evidence of actual harms resulting from discrimination on the grounds of genetics has not been collected systematically.

In July 2007, following a request from the HGC Discrimination Monitoring Group, the Genetic Interest Group (GIG) sent an email questionnaire to its member organisations (all of which are patient support groups for those affected by genetic conditions). Recipients were asked to forward the questionnaire to their members. The questionnaire sought to discover evidence of ‘unfair treatment’ and the responses reveal a number of cases of serious and distressing discrimination against those with genetic conditions.3 They also reveal a history of significant ignorance or misunderstanding of genetic conditions, particularly in the context of insurance underwriting (e.g. Appendix, part 1, sixth bullet) and more generally in social life (e.g. Appendix, part 1, seventh bullet) leading to stigmatisation and disadvantage of those affected.

There is additional evidence from a variety of sources which suggests that fear of being disadvantaged might exert unwelcome influence on people’s decisions about taking genetic tests (see Appendix, part 2). Furthermore, the existence of, for example, the Concordat and Moratorium on Genetics and Insurance4 the Joint Statement of Concern Regarding Genetic Testing in the Workplace5 in the UK, and by the development of foreign and international legal instruments prohibiting genetic discrimination (see list at Appendix, part 4) also indicate that fears about how genetic information might be used to disadvantage individuals are taken seriously at the highest levels. We note, also, that jurisprudence is accumulating around genetic discrimination in other jurisdictions (see Appendix, part 3).

We would draw attention to two further considerations regarding the requirement for evidence. Firstly, genetics is unlike other grounds on which discrimination may take place in that our knowledge about it, and the technologies related to it, are continually developing. The opportunities for genetic discrimination may therefore be expected to increase as knowledge of, and access to, genetic information increases in the medium term (for example, in the normal lifespan of a statute).6 The second point is that evidence of genetic discrimination is difficult to gather. Significant genetic conditions are relatively rare at present and both the rareness of the conditions and the sensitivity of information about them are likely to make those affected difficult to identify and reluctant to come forward.

(ii) Legislating will not produce collateral harms

We believe that discrimination on grounds of disability and discrimination on grounds of genetic traits that do not give rise to symptoms of disease are different in kind. The recommendations of our report Inside Information (referred to in para.8.28 of the consultation document) were that: LL the Government should consider in detail the need for separate UK legislation to prevent genetic

discrimination (para.6.41), and in view of this

LL existing disability discrimination legislation should not be amended to include discrimination on the grounds that someone has a presymptomatic genetic condition (para.6.31).

3 The full findings of the survey are available at on the Genetic Interest Group’s website (www.gig.org.uk) and for that reason we do not reproduce them here.

4 Available at: www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_4105905 5 See www.genewatch.org/sub-555114 6 This point is stressed in a recent International Labour Office Report entitled Equality at work: Tackling the

challenges (paragraph175 ff.) which also cites cases of genetic discrimination in employment. The report is available at: www.ilo.org/global/What_we_do/Publications/Officialdocuments/lang--en/docName-WCMS_082607/index.htm

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http://www.gig.org.uk

http://www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_4105905

http://www.genewatch.org/sub-555114

http://www.ilo.org/global/What_we_do/Publications/Officialdocuments/lang--en/docName--WCMS_082607/index.htm

http://www.ilo.org/global/What_we_do/Publications/Officialdocuments/lang--en/docName--WCMS_082607/index.htm

Consistently with this position we agree with the view expressed in the consultation document that to include genetic predisposition discrimination within the scope of disability discrimination “would change the nature of disability discrimination and risk being seen as a dilution of disabled people’s rights” (Consultation, para.8.28). The context provided by a Single Equality Act provides a clear opportunity to resolve the dilemma, by treating genetic discrimination under a separate heading.

Although a dilution of disability discrimination has arguably already occurred in extending protections to people diagnosed with cancer and HIV, the reasons for this are persuasive and easy to understand. We would argue, however, that there are equally good reasons to include groups of people with highly penetrant, late-onset genetic conditions (Huntington’s Disease being the obvious example, but also genetic predisposition to breast or colon cancers) and other serious genetic conditions. Whatever arrangements are arrived at, we would assert as a matter of principle that those diagnosed with serious genetic disorders should enjoy as much protection in law as those diagnosed presymptomatically as having serious diseases that are either acquired or that occur spontaneously.

However, most of the genetic differences with which we are concerned are not highly penetrant, and some are not medically serious, yet we have evidence for their being used as the basis for discrimination, even when they occur merely in a person’s family history, without any other reason to expect that individual to be personally affected. Drawing the line between such cases and those that might justifiably be classed along with disabilities will be difficult or impossible, as other factors beside the nature of the condition itself – in particular the context in which the discrimination occurs – will combine to attenuate or intensify the effect of discriminatory treatment on an individual’s life. In our view it is far better to offer protection from discrimination on any genetic grounds than to try to establish arbitrary distinctions between those who are protected and those who are not or to draw up provisional lists of ‘protected conditions’. These approaches risk reinstating discrimination amongst those with different genetic conditions which cannot be the aim of legislation.

(iii) Legislation is a proportionate response

We have detected a concern that neither the existence of current voluntary or time-limited arrangements, such as the insurance Concordat and Moratorium, nor confidence in the safeguards of ordinary moral conduct, may be sufficient to allay the fears identified under (i) above. A concern that we have heard repeatedly is the “test now, buy later” problem in relation to insurance. This would occur if people who have undergone tests that they would not have to disclose to insurers under the existing Moratorium find that, when they come to buy insurance in the future, they are required to reveal the results and their premiums are adjusted unfavourably as a consequence. We do not offer a view on whether this concern is well grounded or on whether, in fact, insurers ought to have access to this information. We note, however, that the purpose of the Moratorium was to allow time in which to gather evidence, reflect on this and develop views (we made a number of recommendations in Inside Information7) but that the work undertaken to date has not shown a clear way forward.

If it is the case that, as the consultation document states (para.8.30), “there is a need to ensure that individuals are able to take medically recommended genetic tests secure in the knowledge that the results will not be used unfairly”, and if it is the case that this security of knowledge can not be provided by voluntary, or industry-led, arrangements, a statutory solution may be the most appropriate – because the most stable and effective -- way of providing the degree of reassurance required.

We have given some thought to what the regulatory impact of this legislative solution might be. In addition to any initial costs of establishing regulatory capacity (for example, through the Commission

7 See especially Chapter 7 ‘Personal Genetic information and Insurance’

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for Equalities and Human Rights, Information Commissioner’s Office, or – in the case of insurance – the Genetics and Insurance Committee), consequential changes to internal policies, publications, etc., the ongoing burden is likely to be in proportion to the number of cases of alleged discrimination. In the case of genetic discrimination, this is likely to be very low, and limited by the incidence of relevant genetic conditions in the population.

On the other hand, we consider that burden might be offset by collateral benefits. The existence of a statutory prohibition of genetic discrimination, which reduces fears of genetic information being used to disadvantage individuals, may, correspondingly, increase individuals’ willingness to share personal genetic information. This, in turn, could have a variety of benefits. Among these might be an uptake in genetic testing and research leading to early, effective healthcare interventions and the development of new therapies. Another benefit would be allowing insurers accurately to calculate risk in the light of information about the prevalence of a genetic trait in a risk pool, thereby assisting them to meet Financial Services Authority’s requirements to maintain a sufficient fund in reserve against the possibility of claims. In time, it may even contribute to the overall increase in understanding about genetics, driving out ignorance, prejudice and misinformation.

The Commission’s view on genetic discrimination

In thinking about genetic predisposition it is helpful to distinguish between those mutations which are predictive of serious, highly-penetrant disorders and those which merely point to increased risk, albeit one which, unlike many non-genetic risk factors, cannot be directly removed through healthcare interventions. Along with mutations that predispose people to disease, we also consider it important that a measure of protection is given to those who carry genetic mutations which make them strongly susceptible to environmental factors. We would wish, for example, employers to have a duty to make reasonable adjustments to ensure the health and safety of employees with such susceptibilities rather than denying them employment simply because they carry a certain genetic trait (see Appendix, part 2, fourth bullet). However, discrimination on genetic grounds does not arise only from the likelihood of future disease or disability. Many people suffer discrimination as a result of unfounded or irrational assumptions about them or about genetic characteristics they possess (or might possess). We have found some evidence of this in our research (see Appendix, part 1, fourth, sixth and seventh bullets). It is important that a prohibition of genetic discrimination covers all of these cases and is not restricted merely to cases involving overt disease or disability.

As with other existing discrimination prohibitions, we believe that a statutory prohibition of genetic discrimination should be a qualified prohibition. However, we believe that careful consideration would need to be given to the way in which the prohibition is qualified. As a minimum, some requirement to demonstrate the reasonableness of an exception and its proportionality to some legitimate end would usefully shift the burden of justification to those who would treat individuals differently on genetic grounds. The requirement that any exception is reasonable and legitimate would also help to address the ignorance and prejudice that still obscures the positive value of genetic knowledge. The burden of justification would help to foreground the difference between significant and trivial genetic traits, and ensure that differential treatment is both morally acceptable and supported by evidence. We recognise that statutory measures would require oversight and regulation to ensure that this is the case, and we have referred above to the regulatory burden that we think this would be likely to impose. In most cases (for example in insurance, employment, forensic databases, healthcare provision) existing regulators or oversight bodies already exist; instances that do not fall within the remit of these sector-specific regulators we would see as falling naturally within the remit of the new Commission for Equalities and Human Rights.

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Finally, we wish to mention the special situation that currently obtains with regard to genetics and insurance. The Concordat and Moratorium, which is due to expire in 2011, imposes an artificial restriction on the use of information derived from DNA tests, although it does not cover genetic information which may be derived from other sources, (biochemical tests or family history, for example). It is likely that when the moratorium ends, insurers will wish to make use of information from DNA tests in their actuarial calculations. It is clear that there is a strong case that this would constitute reasonable grounds on which to make an exception from any prohibition of different treatment among individuals on genetic grounds. If this argument should prevail, we nevertheless believe it is important that consideration be given to further measures to avoid undesirable social consequences (such as the creation of a class of people who cannot get access to insurance). One purpose of the Concordat and Moratorium was to provide an opportunity to explore the likely consequences of this situation. Inside Information contained a number of recommendations for further research,8 although the limited work has been undertaken to date has not resulted in any clear way forward. We are committed to ensuring that these issues are properly considered between now and 2011 and we would see the conclusions of this work as informing the way in which exceptions to a prohibition on genetic discrimination may be justified in the context of insurance regulation thereafter. In the mean time, we do not see the continuation of the voluntary Concordat and Moratorium as being incompatible with the introduction of statutory prohibition on genetic discrimination through a Single Equality Bill.

The Commission’s conclusions

In conclusion, the Commission finds that:

LL Unfair discriminatory treatment of groups or individuals on grounds of genetic difference is unacceptable.

LL There is anecdotal evidence of genetic discrimination, which constitutes an adequate justification for legislating now to prohibit genetic discrimination; furthermore, there are reasons to believe that opportunities for genetic discrimination will increase. We agree with the approach outlined by Ruth Kelly in her introduction to the consultation that discrimination should be tackled pre-emptively “rather than addressing it after the event.” We recall, in this connection, that the existence of both gender and disability discrimination were significantly under-recognised prior to legislation owing to the fact that evidence had not been systematically collected.

LL As well as discriminatory treatment, there is evidence that the legitimate fear of future discrimination creates an undesirable context for – and exerts an undesirable influence on – choices made by individuals in the present, such as whether to take a medically relevant test or to participate in potentially beneficial research.

LL Whilst existing voluntary arrangements and Codes of Practice appear to secure a high level of compliance in some important contexts, legislation prohibiting discrimination on grounds of genetic difference is likely to be the most effective way of addressing individuals’ fears about future genetic discrimination that may impact on decisions they take now.

LL Whilst exceptions should be permitted to any prohibition of genetic discrimination, the grounds on which exceptions are made require careful consideration and the burden of justification should fall on those who would seek to treat individuals differently on grounds of genetic difference. We believe that there is precedent for such a model under current employment law, where it operates as a defence to a claim for indirect discrimination, and we understand that this works very successfully in this context.

8 See especially Chapter 7 ‘Personal Genetic information and Insurance’.

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LL Those who are presymptomatic for serious genetic conditions should be as well protected in law as those who are diagnosed with, but asymptomatic for, acquired or spontaneously occurring conditions such as cancers or HIV. Whilst it would be inappropriate to provide this protection via the existing Disability Discrimination Act 1995, we believe that the Single Equalities Bill provides an opportunity to introduce such protection.

LL Regulation is important in ensuring compliance with the proposed provision and in ensuring that any exceptions are properly justified, but we do not envisage the need for the establishment of any new regulatory bodies as we believe that appropriate regulation could be achieved through existing mechanisms.

LL We do not expect the regulatory burden of a prohibition of genetic discrimination to be great, and we therefore find it to be a proportionate and affordable response.

I am happy for you to reproduce this response and to quote from it in your final report and the Commission would be most willing to assist further with the review as you consider how to bring forward legislation. To comply with the HGC’s open working style a copy of this response will be placed on the HGC’s website.

Yours sincerely,

Baroness Helena Kennedy, Q.C. Chair, Human Genetics Commission

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Appendix to HGC response Supporting Evidence

Contents

1. Direct anecdotal reports of genetic discrimination in UK

2. Reported concerns about genetic discrimination

3. Evidence from other countries

4. Summary of foreign and international legal instruments addressing aspects of genetic discrimination

1. Direct anecdotal reports of genetic discrimination in UK

LL A member of HGC’s consultative panel reports: “We could not get the annual travel insurance we have been used to because our daughter had in the last 12 months had a very short stay in hospital due to a crisis. So already there is discrimination on grounds of genetics and not something for the future.” (June 2007, response 1)

LL A member of HGC’s consultative panel reports: “I can remember as a youth with a father who was suffering from TB. I could not get insurance life cover and was considered unsuitable for employment by some firms such was the aversion to TB in the 1940 to 60 era.” (June 2007, response 2)

LL A member of HGC’s consultative panel reports: “I did face major problems over life insurance back in the 70s when I had been diagnosed with PKD and the prediction was acute renal failure in my mid 50s. So any policies would get more expensive as I got older. So instead we took out a policy on my wife.” (June 2007, response 4)

LL A contact at UK Thalassaemia Society reports: “What immediately springs to mind is that I recall 2 instances in which young men had applied to join the forces and been told that they would fail the medical due to being carriers of beta thalassaemia. From conversations with them it appeared that beta thalassaemia trait was being confused with sickle cell trait. I supplied them with literature and asked them to invite the officers involved to contact UKTS. One did so (this was about 3 years ago) but the second, more recent, did not so far. I am not aware of any other discriminatory acts other than those of a personal nature which we are all familiar with.” (August 2007)

LL The British Society of Human Genetics response to HGC Genetics and Employment Survey comments: “One person reported that an RAF entry offer was taken away from them when they found out that the person was a carrier for FVL [Factor V Leiden].”

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LL A respondent to the Genetic Interest Group survey reports: “A gentleman contacted the MND Association after he was denied critical illness insurance cover with respect to Motor Neurone Disease because his mother had the disease, over 15 years ago. This was despite the fact that in 90% of cases, including his mother’s, MND is sporadic rather than familial. The insurance company did not make any effort to establish whether there was a family history of MND. Thanks to his understanding of genetics (he works in the field) and by providing extensive evidence from the scientific literature, the insurance company eventually removed their exclusion clause in the policy on offer. This was only achieved after very lengthy and detailed letters which the gentleman wrote directly to the insurance company’s chief medical adviser. The insurance company in question, stated they would review their policy, in light of this complaint. Disappointingly, eighteen months on, this hasn’t happened.” The respondent also observes that “The MND Association has heard from others who have encountered similar problems after applying for critical life cover with major insurers. These companies either have no understanding of or choose to overlook key facts about the genetics of MND. Unlike the gentleman in the case above, most who encounter such discrimination do not have the appropriate expertise to argue their case, or even question the exclusion in the first place.”

LL A respondent to the Genetic Interest Group survey reports that their family was “Socially stigmatised as people don’t want to get involved with people from HD [Huntington’s Disease] families”.

2. Reported concerns about genetic discrimination

LL A member of HGC’s consultative panel comments: “I have become aware of a case involving a serious late onset disorder genetic condition other than haemochromatosis in which the consultant advises family members to defer taking a genetic test to establish whether they are at risk until they have reached the stage of life when they have taken out whatever long term insurance they are likely to need.”(June 2007, response 5)

LL A member of HGC’s consultative panel comments: “I do have a concern about the status of the insurers’ voluntary ‘moratorium’. If this is only as secure as a ‘Gentleman’s agreement’ and there is a possibility that it may not be extended beyond 2011 I think there should be something more legally binding to maintain the current ‘status quo’ beyond that date.” (June 2007, response 6)

LL A member of HGC’s consultative panel comments: “I can see potential discrimination in the future if employers, mortgage companies or life insurance companies insist on a full genetic test being applied.” (June 2007, response 4)

LL A member of HGC’s consultative panel comments: “[I]f accurate risk prediction of future disease becomes feasible from genetic testing I can envisage scenarios where this could present real issues for job applicants, especially for employment that requires high fitness levels or intensive and costly training for which employers will be looking for maximum return from their training investment. It may also dissuade employers from taking on anyone with a propensity for the types of disorders associated with high levels of sickness absence.” (June 2007, response 6)

LL A Breakthrough Breast Cancer survey, reported to Genetics and Insurance Committee in 2005 found that (in a sample of 48 women with no family history and 23 women with a family history of breast cancer) a significant proportion might be deterred from taking a genetic test if the results might result in an increase in insurance premiums, although the proportion was significantly higher in the group with no family history of breast cancer. http://www.advisorybodies.doh.gov.uk/ genetics/gaic/presentation_dec04_breakthrough.pdf,

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http://www.advisorybodies.doh.gov.uk/genetics/gaic/presentation_dec04_breakthrough.pdf

LL The British Society of Human Genetics Response to HGC Genetics and Employment Survey states: “Anecdotal evidence shows that future employment worries are an issue of concern when having the test done for medical reasons.”

LL John Sulston, former Director of the Sanger Centre, comments that within the research community “it is widely acknowledged that the combination of privacy and informed consent, which currently satisfies legislation, is ultimately both insufficient for protection and stultifying of research. Insufficient because there is no such thing as totally secure data, and because neither physician/ researcher nor patient/subject can be fully informed about future genetics. Stultifying because of vastly increased bureaucracy, and because in an attempt to make it ‘informed’ consent must be sought repeatedly and in detail. In seeking to escape from this dilemma, we need a policy that increases trust through progressive legislation for protection of individuals from harm regardless of their exact consent status.” He adds that the future success of projects such as BioBank may depend heavily on having appropriate protections in a Single Equality Act.

3. Evidence from other countries

LL In 2001 the U.S. Equal Employment Opportunity Commission (EEOC) settled the first lawsuit alleging genetic discrimination against the Burlington Northern Santa Fe (BNSF) Railroad “for secretly testing its employees for a rare genetic condition (hereditary neuropathy with liability to pressure palsies – HNPP) that causes carpal tunnel syndrome as one of its many symptoms.” Company doctors were also instructed to screen for conditions such as diabetes and alcoholism but were not told they were being screened. One employee who refused testing was threatened with possible termination. (Source: http://www.genome.gov/12513976)

LL A case is reported in the US in which a young boy who was discovered, following difficulties at school, to have Fragile X Syndrome had health insurance withdrawn on the basis that the syndrome was a preexisting condition. (Source: http://www.genome.gov/12513976 also reported at http:// www.gene-watch.org/programs/privacy/genetic-disc-position.html)

LL A case US is reported in which a social worker lost her job within a week of mentioning that her mother had died of Huntington’s disease. (Source: http://www.genome.gov/12513976 also reported at http://www.gene-watch.org/programs/privacy/genetic-disc-position.html)

LL A case is reported of a healthy, seven-year-old boy , who takes a genetic test which reveals a predisposition to a heart disorder. “Even though he takes medication that lowers his risk of a heart attack, he is denied health insurance. His insurance company argues that since his gene has been present since birth, this qualifies as a pre-existing medical condition.” (Source: http://www.genewatch.org/programs/privacy/genetic-disc-position.html)

LL A case is reported in which a woman who has a family history of breast cancer: “both her mother and her aunt have been diagnosed with it. She worries about her future and is considering getting tested for BRCA-1, a gene associated with some forms of hereditary breast cancer. Ultimately, she decides not to take advantage of the test, because she fears a positive result will jeopardize her chances for promotion at her law firm.” (Source: http://www.gene-watch.org/programs/privacy/ genetic-disc-position.html)

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http://www.genome.gov/12513976


http://www.gene-watch.org/programs/privacy/genetic-disc-position.html







http://www.gene-watch.org/programs/privacy/

LL “An Alpha-1 patient named Terri Seargent has one of the most obvious genetic discrimination cases in the country at this time. Terri, who lost a 30-year-old brother to Alpha-1, was identified as having the disorder last year. As a preventative treatment her doctor put her on a plasma augmentation therapy used to slow the progression of lung damage. Shortly after receiving the bill for her first treatment, her employer, who self-insured, abruptly fired her, in spite of the fact that she continued to perform her job, in a manner, which her employer had always referred to, as exemplary.” (Source: http://www.ramazziniusa.org/geneticdiscrim.htm)

LL “The Australian government-funded Genetic Discrimination Project is investigating around 100 claims of unfair and negative treatment of people who have had predictive genetic tests, mainly involving life insurance companies. [University of Queensland social scientist, Dr Sandra] Taylor says that around 47% of 1185 people surveyed said they had been disadvantaged as a result of tests for conditions ranging from Huntington’s disease and haemochromatosis to ovarian and breast cancer. Of these 438 or so people, around 87 provided specific incidents of negative treatment, from insurance companies, doctors, employers and family members.” Source: http://www.abc.net. au/science/news/health/HealthRepublish_1496914.htm

LL Three further cases of genetic discrimination in the USA are reported: “ Case 1: A man who discovered he was a carrier of a single gene variation that causes Gaucher’s disease and revealed this fact in his job application was subsequently denied employment. He was not at all affected by the condition but risked passing the disease on to his children. Case 2: A woman in the US who notified her existing employers of a positive test for Huntington’s disease was fired from her job. During the previous eight months, she had received a promotion and several outstanding performance reviews. Case 3: A woman who was experiencing slight breathing difficulties went to her doctor for a genetic test because her brother had previously died from alpha-1antitrypsin deficiency. She tested positive for the condition and received lifesaving treatment since the deficiency is treatable if detected early. When her employer found out, she was fired.” (Source: Genewatch report ‘Genetic Testing in the workplace’)

LL One case of discrimination on the basis of family history in Hong Kong is reported: “In October 2000, three men were awarded a total of £250,000 in damages because they had been refused employment by the Hong Kong Government purely on the grounds that their parents were affected by schizophrenia. The three men had either been refused a job or dismissed from their post without being given a clear reason. An investigation by the Hong Kong Equal Opportunities Commission revealed the link to their family history. It seems that the government employers had completely misunderstood the risks of inheriting this condition. Statistically, someone who has a parent with schizophrenia has a greater chance of developing the disease – a 10% chance compared to a 1% chance in the rest of the population. In fact, the risk for these men was much less since they were in all their early 20s and long past the age when the disease usually appears. More importantly, the symptoms of schizophrenia never start suddenly. Behavioural abnormalities develop well in advance of the full illness so even if these men had become ill, it is not evident that they would have constituted any real danger in the workplace.” (Source: Genewatch report ‘Genetic Testing in the workplace’)

LL A case was reported in the British Medical Journal of a teacher in Germany who was refused a permanent job because of a family history of Huntington’s Disease. The risk was revealed during a compulsory medical examination undergone by all applicants to the German civil service. “The occupational physician who carried out the medical check reported that the teacher was fit to perform her job but said that there was a “higher risk” of future absenteeism because members of her family have Huntington’s disease.“ (Source: BMJ 2003;327:827 (11 October))

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http://www.ramazziniusa.org/geneticdiscrim.htm

http://www.abc.net.au/science/news/health/HealthRepublish_1496914.htm

4.Summary of foreign and international legal instruments addressing aspects of genetic discrimination9

LL Many countries acknowledge that genetic discrimination is an area for concern. There is a complex interplay between insurance, employment and healthcare, especially when the country does not have a publicly funded healthcare system. Different routes have been used to legislate against genetic discrimination: some countries have sought to use data protection legislation and some have sought to use equalities legislation.

LL Germany: the general legal provisions governing the medical profession, combined with the provisions on data protection contained in Federal and Laender legislation, provide a framework for the protection of genetic data.

LL Slovenia: in the field of biomedicine and particularly genetics, the protection of human rights is regulated by the Act Ratifying the Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine, the Convention on Human Rights and Biomedicine, the Additional Protocol to this Convention on the Prohibition of Cloning Human Beings and the Decree ratifying the Additional Protocol to the Convention on Human Rights and Biomedicine, on Biomedical Research, in addition to other health legislation.

LL Spain: the protection of persons with regard to processing of their personal data, including those obtained from genetic testing, is governed by Organic Act 15/1999 of 13 December 1999 on the Protection of Personal Data. As stated in article 7.3 of this Organic Act, “Personal data referring to racial origin, health and sexuality may be collected, processed and disclosed only when so provided for by legislation, on grounds of general interest or if the person concerned gives his or her express consent”.

LL Russia: DNA examination is conducted on the institutions of the State agencies involved in criminal proceedings and police work and of the courts. The results of the DNA examination does not reveal the physiological traits of the individual’s genetic make-up and state of health and may not be used for the purpose of “genetic” discrimination. The Russian Ministry of Internal Affairs has drafted a federal act on State genome registration in the Russian Federation. It is aimed at laying the legal bases for the preventive collection, storage and use of biological material for the identification of individuals and of the personal information contained therein on the DNA make-up of the persons for the purpose of enhancing the effectiveness of efforts to combat crime, including terrorism and extremism, establishing the identity of unidentified corpses and searching for Russian nationals, foreign citizens and stateless persons reported missing.

LL France: a 2002 amendment to the code civil and to the code pénal prohibits discrimination based on one’s genetic characteristics or on predictive genetic tests “having as an object a disease which has not yet manifested or a genetic predisposition to a disease”.

LL Sweden: standing legislation requires that genetic testing may only take place if it has a medical aim or serves a research purpose.

LL Finland: a 2001 law provides that employers shall not require employees to participate in genetic testing either at the time of recruitment or during employment, nor do employers have the right to obtain information as to whether an employee has undergone such testing.

9 Most of the information on non-UK jurisdictions is found in the UN Economic and Social Council report on Genetic privacy and non-discrimination available at www.un.org/ecosoc/docs/report.asp?id=1304. Other information was obtained from the GAIC 2nd Annual Report (2004) available at: www.dh.gov.uk/en/Publicationsandstatistics/Publications/ PublicationsPolicyAndGuidance/DH_4070357

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http://www.un.org/ecosoc/docs/report.asp?id=1304

www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_4070357

LL Denmark: legislation from 1996 regulates the Use of Health Information on the Labour Market. The aim is to ensure that health checks focus on the actual/present health conditions and that those conditions are relevant to the employee’s work. Thus, the Act widely limits the employer’s possibilities to ask potential employees for health information including information based on genetic testing.

LL Austria: both genetic screening and the collection, demand, acceptance or any other utilisation of genetic data on the employees by the employers are explicitly prohibited.

LL The Netherlands, Luxembourg and Greece : Restrictions to the collection and processing of genetic data at the workplace are provided.

LL Italy: according to the data protection law of 1996, genetic data may only be processed under the circumstances referred to in an ad-hoc authorisation to be granted by the national supervisory authority. The genetic data expressly referred to in that authorisation may be processed with regard to such information and operations as are indispensable to protect the bodily integrity or health of either the subject, a third party or the community as a whole – on the basis of the subject’s written consent. Failing the subject’s consent, the processing may be started and/or continued if it is aimed at protecting the bodily integrity or health of either a third party or the community as a whole – exclusively on the basis of a prior ad-hoc authorisation to be granted by the national data protection supervisory authority.

LL The Preamble to the Constitution of the World Health Organisation (1946): “Health is a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity. The enjoyment of the highest attainable standard of health is one of the fundamental rights of every human being without distinction of race, religion, and political belief, economic or social condition.”

LL The Universal Declaration of Human Rights (UN, 1948), Preamble, refers to the “recognition of the inherent dignity and of the equal and inalienable rights of all members of the human family.”

LL Convention for the Protection of Human Rights and Fundamental Freedoms ( Council of Europe, 1950), Article 14 (Prohibition of discrimination): The enjoyment of the rights and freedoms set forth in this Convention shall be secured without discrimination on any ground such as sex, race, colour, language, religion, political or other opinion, national or social origin, association with a national minority, property, birth or other status.

LL European Social Charter (1961), Preamble, asserts that “social rights should be secured without discrimination on grounds of race, colour, sex, religion, political opinion, national extraction or social origin…”

LL Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine (Council of Europe, 1997), Chapter 1, Article 1, states “Parties to this Convention shall protect the dignity and identity of all human beings and guarantee everyone, without discrimination, respect for their integrity and other rights and fundamental freedoms with regard to the application of biology and medicine.” Chapter 4, Article 11 (Non-discrimination) states: “Any form of discrimination against a person on grounds of his or her genetic heritage is prohibited.”

LL The Universal Declaration on the Human Genome and Human Rights (UNESCO, 1997) Article 6, states: “No one shall be subjected to discrimination based on genetic characteristics that is intended to infringe or has the effect of infringing human rights, fundamental freedoms and human dignity.”

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LL The Charter of Fundamental Rights of the European Union ([2000] O.J.E.U. C364), Article 21 (Non-discrimination) states: “Any discrimination based on any ground such as sex, race, colour, ethnic or social origin, genetic features, language, religion or belief, political or any other opinion, membership of a national minority, property, birth, disability, age or sexual orientation shall be prohibited.” In relation to employment, Article 15 (Freedom to choose an occupation and right to engage in work) states that “Everyone has the right to engage in work and to pursue a freely chosen or accepted occupation.”

LL The Universal Declaration on Bioethics and Human Rights (UNESCO, 2006), Article 10 (Equality, Justice and Equity) states: “The fundamental equality of all human beings in dignity and rights is to be respected so that they are treated justly and equitably.” Article 11 (Non-discrimination and non-stigmatization) states: “No individual or group should be discriminated against or stigmatized on any grounds, in violation of human dignity, human rights and fundamental freedoms.”

LL The US Genetic Information Non-discrimination Act introduced in January 2007 identical Bills H.R.493 and S.358 to the House of Representatives and the Senate respectively. This Bill known as the Genetic Information Non-discrimination Act (GINA) of 2007, would protect people in the US from being denied jobs or insurance because of their genetic status. The President has publicly expressed his support for banning genetic discrimination in health insurance and in the workplace. The Bill is divided into several parts of which Title I deals with insurance and Title II deals with employment. In Title II part (a) of sections 202-205 seek to prevent employers, agencies and labour organisations from failing or refusing to hire or sack employees on the grounds of genetic information or to allow discriminating against employees in terms of compensation, terms, conditions or privileges of employment.

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HGC response to the Office of Science and Innovation consultation on the code of practice for Scientific Advisory Committees

Tracey Halsey Office of Science and Innovation Bay 310 1 Victoria Street London SW1H 0ET By post and email: [email protected] 12 September 2007

Dear Ms Halsey

Human Genetics Commission response to the Office of Science and Innovation Consultation on an Update to the Code of Practice for Scientific Advisory

Committees

The Human Genetics Commission (HGC) is grateful for the opportunity to contribute to the Consultation on the Code of Practice for Scientific Advisory Committees. The HGC is an advisory non-Departmental Public Body reporting to UK health and science ministers. It is sponsored jointly by the Department of Health, the Department for Innovation, Universities and Skills, and the Devolved Administrations. The HGC’s role is to advise Government on new developments in human genetics and their impact on individual lives, with a particular focus on social, ethical and legal implications. The HGC’s terms of reference are attached as an Appendix to this response.

The Commission has found the existing Code of Practice for Scientific Advisory Committees to be a useful reference in the conduct of its own business and congratulates the Office of Science and Innovation on having produced a timely and measured update.

Expert advice and consultation: consultation question (i)

The HGC comprises a balance of specialists (scientific or clinical experts) and lay members (if we consider the latter to be those who are not scientists or clinicians with direct involvement in genetics/ genomics) and has a ‘lay’ Chair, Baroness Helena Kennedy QC. Its members are appointed for their experience and expertise in a wide range of fields, from science and healthcare, to consumer affairs, moral philosophy, social science, information technology, disability rights and the law. Although the HGC deals with many issues at the leading edge of genetic and genomic science, it is not a ‘scientific advisory committee’ in the sense that its advice constitutes or evaluates technical scientific knowledge. It does not “offer independent expert judgement” (Updated Code of Practice, paragraph 6) within a recognised scientific discipline. The Commission’s work is, in fact, largely concerned with the context in which science and scientific advice are developed – in the terms of the Code of Practice, the ‘frame’ for “advice on scientific issues…[that takes] account of social and ethical issues and public and stakeholder concerns” (ibid.). Its operating discourse is not a scientific one but one which strives as far as possible to be demotic, accessible to the non-specialist.

Nevertheless the Commission has a need to distinguish between fanciful speculation and plausible prediction of scientific developments. In its work the Commission has found it useful to draw on a mixture of the expertise of its own members, use of co-opted specialists (particularly on its subgroups and working groups), commissioned reports, and ‘information gathering’ events which bring together experts in a particular field. However, because of the Commission’s focus on social

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mailto:[email protected]

and ethical implications, the role of lay members is at least as important as that of science specialists, and our experience leads us to conclude that in reflecting on scientific evidence to produce advice which, in turn, is to be used to inform policy, the value of having lay members on the committee is indispensable. This would lead us to question the traditional distinction between scientific and lay membership. The HGC appropriately has a broad range of specialists with diverse expertise and continued use of the term ‘lay member’ to distinguish scientists from non-scientists is not wholly useful in our working context.

If the substantive issues on which the HGC advises are often not science itself, but more often the values and interests that condition the pursuit and application of scientific knowledge, there is a second sense in which the HGC’s advice may nevertheless be described as scientific. That is insofar as relevant aspects of its work are carried out in accordance with scientific methodologies, in particular those of the social sciences. In managing public consultation exercises, for example, methodological transparency is essential to avoid the problem of ‘double counting’ (referred to in the consultation document). However, this is only insofar as double counting is a problem: very little of the HGC’s evaluation involves ‘counting’ in the relevant sense. We have found, both in our own work and in that of bodies working in related fields, that what is more pernicious is often the perception of double counting in the context of assumptions about how the committee draws its conclusions from opinions expressed in response to stakeholder consultation. For that reason, the Commission has striven always to be explicit about how it arrives at its conclusions and what evidence or arguments it has found persuasive. On occasions when representative or random samples of opinion have been sought it has engaged specialist external contractors. The HGC also uses robust methods when reviewing evidence for its reports and is explicit about how its conclusions and recommendations are derived.

Openness: consultation question (ii)

From the outset the HGC has championed an open and transparent style of working. Its quarterly plenary meetings are held in public and take place at venues throughout the four home countries. The HGC rarely deals with confidential information but where it does, it does so consistently with Data Protection and Freedom of Information legislation and, previously, the Code of Practice on Access to Government Information. The only comment we have is that we have found it important to stress and to remind those contributing evidence or opinions of the implications of this open style of working.

Quality assurance and evaluation: consultation question (iii)

In the case of the HGC, the Chair, Vice Chair and sponsor departments (including the committee Secretariat) all have a role in ensuring that the Commission fulfils and operates within its terms of reference and complies with relevant codes of practice. Ongoing feedback, for example, through exercises which engage the general public and more specialist groups, and from meeting audiences, provide useful performance indicators.

We have found periodic ‘light touch’ review by independent reviewers, which takes into account the views of a wide range of stakeholders and reports directly to the sponsor Department(s), to be valuable both as quality assurance and as learning exercises for the Commission. The interval between reviews might depend on the level of activity of a committee and the anticipated benefits of carrying it out – every five years, as recommended by the House of Commons Science and Technology Committee, would seem to be a reasonable guide, however.

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Adoption of the Code: consultation question (iv)

Earlier in this response attention was drawn to the limited sense in which the HGC fits the template of a “Scientific Advisory Committee” envisaged in the Code of Practice. This was not to call attention to the HGC’s peculiar status but rather to draw attention to the fact that committees often have multiple functions, only some of which fall squarely within the ‘scientific advisory’ model. Further clarification could be given in the Code of Practice of to what extent – or in pursuance of what specific functions – a committee with broader terms of reference (such as a regulator, for example) might act as a scientific advisory committee and would therefore be expected or required to comply with the Code. We have in mind the example of the Human Fertilisation & Embryology Authority, the UK’s independent regulator of assisted reproduction and human embryo research: the Authority has, among its statutory functions a duty to “keep under review information about embryos and any subsequent development of embryos and about the provision of treatment services and activities governed by this Act, and advise the Secretary of State, if he asks it to do so, about those matters” (HFE Act 1990, 8(a)). When it has done so, for example on the issue of sex selection in 2003, the Authority operated, in effect, as an expert advisory committee and recommended an extension to the scope of its own licensing function. In the example given, we have no reason to believe the HFEA acted other than in accordance with the highest standards of transparency and propriety. Nevertheless, in addition to this clarification mentioned above, the Government Office of Science may also wish to give consideration to how the Code could assist with the management of competing interests – at a corporate rather than individual member level – within those committees which have both an advisory and regulatory function, particularly where they derive revenue from their regulatory activities.

Development of Code of Practice and list of SACs: consultation question (v)

We mention above an example of a regulator that also has a clear expert scientific advisory function but is not currently listed at Annex 4 to the consultation.

The HGC has found facilitating communication among advisory committees to be extremely useful in increasing the insight and value of scientific advice and in eliminating undesirable gaps or overlaps. Two methods which we have found useful are sharing of members through ex officio or observer roles (HGC has reciprocal arrangements with HFEA and GAIC, for example) and memoranda of understanding which, as well as setting out the terms of reference of each committee, also set out terms on which two or more committees are expected to share information and co-operate in the delivery of advice. (This further develops the guidance given at paragraphs 99-100 of the Updated Code of Practice.) Another relevant example is the HGC supplying ‘lay members’ to the National DNA Database (NDNAD) Strategy Board – this is not a reciprocal arrangement and somewhat unique, but useful in following through the HGC’s accepted recommendations and ensuring that they are being properly implemented in this case.

I hope this response is useful. I am happy for you to reproduce it and quote from it in your final report. To comply with the HGC’s open working style a copy of this response will be placed on the HGC’s website.

Yours sincerely,

Baroness Helena Kennedy, Q.C. Chair, Human Genetics Commission

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HGC letter in response to the UK Intellectual Property Office’s consultation on the European IP Charter and Knowledge Transfer Communication

Jim Houlihan, UK Intellectual Property Office, Concept House, Cardiff Road, Newport, South Wales NP10 8QQ

Dear Jim,

RE: Consultation on the European IP Charter and Knowledge Transfer Communication

I am writing to you as Chair of the Human Genetic Commission’s (HGC), Intellectual Property Monitoring Group. At a recent meeting on 11th September, the Group discussed a response to the UK Intellectual Property Office’s consultation on the European IP Charter and Knowledge Transfer Communication. In responding to the consultation, I shall not attempt to answer the individual questions set out in the consultation, but will instead seek to convey the discussion held by the group at the meeting.

Currently the UK has a very effective Intellectual Property (IP) management policy for innovations arising within public sector research organisations. This being one of the most advanced in Europe we feel that there is little need to update it. However, the UK should not miss the opportunity for furthering international co-operation and harmonization around the principles and codes of practice for IP.

It is the view of the Group that the successful UK policy for managing IP arising from public sector research organisations should be disseminated internationally and other countries should be encouraged to adopt a similar approach. It should also be noted that countries should be establishing a wide IP knowledge base of which patenting is only a small part.

The Group also agreed that the UK Intellectual Property Office should work to engage internationally to prevent retrograde steps being taken in this area. A situation where Europe develops an IP policy that is incompatible with the UK should be actively avoided. The Group recognizes that international agreements on IP are key to ensuring harmonization within Europe around the use of patents and to achieve successful knowledge transfer.

If you have, any further queries please contact the Secretariat at [email protected], 02079724351.

Yours Sincerely,

pp

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HGC response to the Medicines and Healthcare products Regulatory Agency’s consultation on the ‘Challenges and priorities for the next five years’

Michael Darbyshire Policy Division, MHRA Room 16-162 Market Towers 1 Nine Elms Lane London SW8 5NQ

By post and email: [email protected]

13 October 2007

Dear Mr Darbyshire

Human Genetics Commission response to the Medicines and Healthcare products Regulatory Agency’s Consultation on the “Challenges and priorities for the next five years”

The Human Genetics Commission (HGC) is grateful for the opportunity to contribute to the MHRA’s consultation document Challenges and Priorities for the next five years. The HGC is an advisory non-Departmental Public Body reporting to UK health and science ministers. It is sponsored jointly by the Department of Health, the Department for Innovation, Universities and Skills, and the Devolved Administrations. The HGC’s role is to advise Government on new developments in human genetics and their impact on individual lives, with a particular focus on social, ethical and legal implications. The HGC’s terms of reference are attached as an Appendix to this response

This response is relevant to the Question 1 of the consultation document namely “Are there areas within its responsibilities where the Agency could do more to contribute to public health”.

Developing appropriate regulatory frameworks to govern the provision of genetic tests has been a policy concern for over a decade. Concerns about direct to consumer tests have been expressed by a series of high-level committees in the UK, US and Australia, each of which has made recommendations about how the regulation of such testing may be enhanced.

The UK has been a regulatory pioneer in this field, developing a code of practice for companies in 1997 (ACGT guidance, attached). However, as the attached briefing explains, this code is no longer in operation. Whilst regulation of NHS-based genetic tests has been enhanced by the creation of the UK Genetic Testing Network, there is currently a regulatory gap concerning commercial genetic testing providers. HGC considered this in detail through a public consultation exercise which culminated in the Genes Direct report published in 2003 (see attached report and executive summary). The development of a mechanism for pre-market review of tests and a code of practice for direct genetic testing services were amongst the report’s key recommendations.

It is unclear how large a market there may be in future for genetic services, but the pathology modernisation process within the NHS is likely to result in a greater role for commercial clinical labs and there has been a slow but steady emergence of commercial test providers. Furthermore, the public can use the internet to access testing services outside the UK. Thus even though it is still ‘early days’ and not clear how genetic tests will develop in the future, more knowledge about genes, new

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technology and people’s growing interest in factors that affect their health will open up opportunities for ’high street’ genetic testing.

In the HGC Genes Direct report, we identified three main ways in which people might access genetic tests: LL Through NHS and private doctors

LL Through non-medical intermediaries (pharmacies or complementary therapists)

LL Direct to the consumer, with people doing the test at home or collecting a sample themselves and sending it to a lab for testing.

The last two examples are types of ‘direct genetic testing’ and, in view of the potential of such testing to give rise to significant harms we therefore see this as an area where greater regulation is required at present.

The HGC accept that people have the right to obtain information about themselves and that the State should not intervene unless there is an element of risk or harm, particularly to vulnerable people like children or the elderly. We identified two possible broad ‘harms’ from direct genetic testing LL the impact on people of misleading or misunderstood predictive health information

LL The possibility that people can get inappropriate genetic test on children or adults without appropriate consent.

The HGC anticipated that the creation of the MHRA would provide an opportunity to develop an appropriate regulatory framework for direct genetic tests before they are placed on the market (premarket review). However, we note that the MHRA has not, to date, exercised its powers as a notified authority under the In Vitro Diagnostic Devices (IVDD) Directive as broadly as to require proper pre-market review of the clinical validity or clinical utility of genetic tests but has instead concentrated mainly on analytical validity (safety, quality and accuracy).

In view of the real possibility of harms of the kinds described above we strongly believe that there needs to be some independent mechanism to consider the scientific and clinical validity and utility of any genetic testing service.

If a company wants to provide a direct genetic test other than through a doctor then we think it should have to convince a regulator that the test is suitable. We thus would urge the MHRA to develop an appropriate regulatory framework for direct genetic tests before they are placed on the market.

As we understand it, one mechanism for enhancing regulation would be for the MHRA to review the risk classification of individual genetic tests – which are currently, without distinction, classified as ‘low risk’ – for the purposes of the IVDD Directive. The current, blanket ‘low risk’ classification means there is no requirement for independent, pre-market reviews for manufacturers claiming efficacy or clinical utility of a test before it is offered to the public. The blanket nature of this classification means that there is an institutionalised refusal to look beyond the effect of the test itself to its implications, and to the effect of the possible outcomes of different tests for individuals. This would be a feasible way of addressing concerns about inappropriate tests coming onto the market and ‘overselling’ of tests by manufacturers.

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Pre-market review includes assessment of the claims made by the manufacturer about the product. It could be seen as a means of ensuring ‘truth in labelling’ and so the evidence base for all promotional claims including claims of efficacy should be assessed. This would provide similar protections as those afforded in the provision of medicines. An additional role for pre-market review might be to determine the appropriateness of a test to be marketed direct to consumer. This then leads to the HGCs recommendation that certain genetic tests should only be offered by a suitably qualified health professional (see Genes direct summary recommendation list).

The IVDD Directive and consequently the MHRA, is only concerned with devices used for medical purposes and in previous statements/communication, the MHRA has implied that ‘lifestyle tests’ would not come within their area of concern. However if the test manufacturer makes a medical claim for their product, for example prediction of risk for cardiovascular disease, then this may fall within the definition of a ‘medical purpose’. It could also be argued that tests which are marketed for the purpose of preventing disease fall within the scope of the Directive, as the EU Directives define medical devices as those intended “for the purpose of diagnosis, prevention, monitoring, treatment or alleviation of disease”. They also meet the definition of an IVD, i.e. their purpose is “providing information concerning a physiological or pathological state”. It is noteworthy that the Australian device regulators have recently issued guidance, which states that nutrigenetic tests will be regulated as IVDs

The question of whether all genetic tests should fall into a regulatory mechanism irrespective of the IVDD Directive has also been considered by HGC. We agree that while consideration should be given to regulation of genetic tests not covered by the Directive, it would be a mistake to say that all genetic testing products should fall under the IVDD Directive. We would suggest that for those tests that are going to fall outside the regulatory scope of the IVDD Directive, an alternative regulatory mechanism should be considered to ensure appropriate oversight

We expect that the MHRA will increasingly be expected to oversee European legislation that controls some aspects of commercial genetic test kits and direct genetic testing, for example by overseeing wider aspects such as scientific quality and clinical utility of genetic tests and the advice that is given to customers. Thus, the MHRA need to provide a regulatory framework for direct genetic tests before they are placed on the market.

The MHRA currently regulates not just genetic tests but also devices that people with genetic conditions may need in order to be able to live in the community. The HGC believes that there is a need for greater transparency about why devices are or are not licensed, and for additional guidance about their use. For example, people with genetic conditions may be placed at risk by using a device beyond its ‘sell-by’ date because they can no longer obtain a replacement but cannot live independently without it.

In summary, we find that: LL the MHRA should reassess the risk classification for genetic tests, which is currently covered by the

IVDD Directive but classified as ‘low risk’ and thus exempt from independent pre-market review.

LL this reassessment should take into account the possible implications of the outcome of the tests and the circumstances in which they are provided

LL Consideration should be given to the establishment of an alternative regulatory mechanism for genetic tests that fall outside the IVDD Directive.

LL Greater transparency should be provided about why devices, used by people with genetic disorders, are or are not licensed; and for additional guidance about their use

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We hope that you will consider our response carefully and provide us with feedback on the recommendations highlighted in this letter.

Yours sincerely,

Sir John Sulston Acting Chair, Human Genetics Commission

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HGC statement on private genetic tests

In recent weeks, the HGC has become aware of various genetic testing services promoting their activities through television and other media. Concerns have been raised regarding the tests’ efficacy, utility and implications for individuals and their families. It is over four years since Human Genetics Commission published its report, Genes Direct, Ensuring the effective oversight of genetic tests supplied directly to the public. Those years have seen a consistent increase in the number of genetic tests on the open market.

Tests that claim to predict the onset of disease or indicate a heightened risk of serious conditions, or, alternatively, to offer peace of mind and the promise of a long and active retirement can significantly influence choices that profoundly and enduringly affect an individual’s health. There needs to be evidence that the tests accurately and reliably predict what they are advertised as predicting. They also need to be provided in the context of proper consultation where their implications can be discussed and managed. Aggressively marketed tests, for which evidence of their usefulness is limited or absent, may heighten anxieties about health or lead to inappropriate requests for further medical tests or treatment. Alternatively, it may encourage a complacent disregard for the effects of an unhealthy lifestyle and may lead to a loss of trust amongst the general public in the potential advances that may arise from the scientific discoveries.

In most cases, a healthy lifestyle, which includes regular exercise, a healthy diet, no more than moderate alcohol intake and no smoking, will have far more influence on a person’s health than the small modification of risk that may be result from the inheritance of certain predisposition genes. In a small number of families, however, there may be very important genetic conditions which are purely determined by the inheritance of a single gene – these genes are not included in the tests currently offered by commercial genetic testing companies. If someone has a significant family history of a certain condition their family history should be carefully evaluated by a clinical geneticist before a decision is made about genetic testing.

For individuals thinking of buying a genetic test we have produced a list of questions that may help you make a decision as to whether the test is right for you.

The HGC is not a regulatory body or a licensing authority. It would not be appropriate for us to single out particular companies or tests. However we note and support the concerns raised and are actively working with other bodies to ensure the effective oversight of genetic tests provided directly to the public. Next month the HGC will publish a follow-up report on developments since Genes Direct (2003). The report will contain the Commission’s latest recommendations relating to private genetic testing.

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HGC response to the Scottish Government Review on the current regime governing the acquisition, use and destruction of fingerprint and DNA data

Professor Jim Fraser Forensic Legislation Review c/o Forensic Services Policy Unit The Scottish Government Area 1W.R St Andrews House Regent Road Edinburgh EH1 3DH

By email: [email protected]

20 December 2007

Dear Professor Fraser

Re. Scottish Government Review

Many thanks for your letter of 3 December, which was received by email by the Human Genetics Commission (HGC). As Chair of the HGC’s Identity Testing Monitoring Group, I have been asked to respond on behalf of my fellow Commissioners. Our response relates specifically to issues of DNA rather than fingerprints, in line with our remit.

The HGC is grateful for the opportunity to contribute to this review and, as the UK-wide advisory body on developments in human genetics and their ethical, legal, social and economic implications, is able to bring an important perspective to the issues raised.

Since its establishment, the HGC has had a close involvement with policy issues relating to the collection, retention and use of genetic information for forensic purposes and has contributed to a number of consultations on proposals to revise legislation both in England and Wales, and in Scotland. In particular, I enclose a copy of our response to the Scottish Executive’s earlier consultation on proposals for the collection and retention of DNA samples and fingerprints in Scotland in 2005 for your information. In this response, HGC draws attention to its earlier recommendations contained in ‘Inside Information – Balancing interests in the use of personal genetic data’ (May 2002) and emphasises, in particular, the need for robust safeguards against discrimination and misuse of information, and the importance of open public debate on any proposals for legislative change.

I will draw attention to some of the HGC’s previous conclusions on issues of relevance to the specific questions set out in your letter below, but before doing so I wish to re-emphasise our overarching recommendation concerning the need for earnest public engagement – whilst we are aware that there is broad support for forensic DNA databases among the public, their existence raises important issues of balancing public and private interests, and depends upon widespread public confidence.

The HGC remains actively committed to this recommendation. At present we are undertaking a “Citizens’ Inquiry” into the forensic use of genetic information. This is a deliberative public dialogue exercise, which will examine more closely the expansion of the (English) National DNA Database in recent years, the conditions subject to which biological samples may be collected and retained, and the uses to which the samples and database information may be put. The inquiry will collect evidence

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from a wide range of sources in order to enable participants to identify, examine and discuss the key social and ethical issues involved.

The inquiry will give special attention to the differences in legislation and approach that exist between England and Wales, and Scotland. In order to draw these out, parallel sessions will be held in Birmingham and Glasgow over a number of weeks in early 2008, with the sessions being linked by live video. The inquiry will report in the Spring of 2008 and the findings will be published independently and contribute to a broader HGC report on the forensic use of genetic information, planned for later in the year. Both the inquiry report and HGC report are likely to contain findings and recommendations that are strongly relevant to your review and I should be happy to provide you with a copy of these as they become available.

I now turn to the specific issues raised in your letter. We are pleased to note that the Scottish Government is not contemplating allowing the indefinite retention of DNA data acquired from individuals not convicted of any crime. With reference to the first aspect of your review (examining the appropriateness of the 3-year retention period for samples from those charged but not convicted of a sexual or violent offence) we would emphasise, as we did in response to the 2005 consultation, the importance of distinguishing the considerations that attach to retaining biological samples, on the one hand, and those that attach to retaining DNA profiles, on the other. We would reiterate our earlier conclusion that there should be a persuasive and fully articulated justification for retaining biological samples and that special safeguards should apply to them.

In relation to the second aspect of your review (extension of DNA and fingerprint sampling to young people in certain circumstances) we would re-state the general point we made in response to the Home Office’s current review of the Police and Criminal Evidence Act 1984. In our response to their initial consultation we questioned the evidence supporting the suggestion that expanding (in this case) the National DNA Database would deter young people from committing minor offences in the first place and deter young offenders from moving on to more serious criminal activities in later life. We have not, to date, seen sufficient evidence to support a move of this kind although we acknowledge that it might be appropriate to acquire DNA from young people in exceptional circumstances (i.e. serious violent or sexual offences). However, if this were to be the case, a limit should be placed on the retention period and, as we have already indicated, before such a move were agreed it should be subject to thorough and specific consideration.

The HGC next meets on 6 February 2008 and I shall draw your letter to the attention of my fellow Commissioners with a view to discussing how the Commission might contribute further. In the mean time, I should be grateful if you would indicate the likely timing of your review and the stages at which further evidence might usefully be provided. Conversely, I should be happy to put you in touch with those facilitating the HGC’s Citizens’ Inquiry who, I am certain, would welcome any background on your review and any offer to contribute evidence.

Yours sincerely,

Professor Stephen Bain Chair, Identity Testing Monitoring Group Human Genetics Commission

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HGC response to the Ministry of Justice consultation on the use and sharing of personal information in the public and private sectors

Data Sharing Review Secretariat 5.26 Steel House 11 Tothill Street London SW1H 9LH


15 February 2008 [extension until 22 Feb granted]

Dear Mr Thomas and Dr Walport

Re. Use and Sharing of personal information in the public and private sectors consultation

The Human Genetics Commission (HGC) are grateful for the opportunity to respond to your consultation on the use and sharing of personal information which we believe is both timely and important. The HGC is the Government’s advisory body on developments in human genetics and their ethical, legal, social and economic implications and it has a UK-wide remit. As Chair of the HGC’s Databases Monitoring Group, I have been asked to respond on behalf of my fellow Commissioners. Our response relates specifically to issues raised by the sharing of personal genetic information, in line with our remit.

Section 1: Background

Question 1. Please explain what your interest in information sharing is

Comments: The HGC is the UK Government’s advisory body on new developments in human genetics and how they impact on individual lives. It has an interest in the use of genetic information and the implications this has for individuals and society. In 2002, the Commission published a report ‘Inside Information’ which outlined key principles in balancing interests in the use of personal genetic data. The Commission has continued to monitor developments in the collection and use of genetic information since this publication. In responding to this consultation our focus will be specifically on the use and sharing of genetic information (including when linked to other personal information).

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Section 2: Scope of personal information sharing, including benefits, barriers and risks of data sharing and data protection

Question 2. What in your view are the key benefits of sharing personal information to a) individuals and b) society? Please provide examples.

Comments: In relation to genetic information, the sharing of such information would be in accord with one of the principles set out in ‘Inside Information’ namely genetic solidarity and altruism. The benefits of, for example, research involving genetic information (supplied or derived from biological samples with informed consent) is likely to be of benefit to society, rather than to the immediate benefit of individuals providing such information, through the increased knowledge it will bring about disease and possible medical interventions. Benefits to individuals of sharing their genetic information are likely only to be within a clinical context, for example, between health care professionals, with the consent of the patient, in order to ensure most appropriate treatment. The development of pharmogenetics is likely to mean such data sharing may become more important. The sharing of genetic information about individuals, possibly via a network of healthcare professionals, may also bring benefits to blood relatives (for example, to identify otherwise unsuspected genetic risk or to inform their reproductive decisions).

Question 3. What in your view are the key risks of sharing personal information to a) individuals and b) society? Please provide examples.

Comments: The key risks of sharing genetic information are similar to those regarding all personal information – the risks of breaches of a duty of confidentiality, improper use of the information, potentially leading to unfair or discriminatory treatment of individuals or groups, etc. However, there are some additional risks pertaining to genetic information in that sharing such information may bring harm to that individual but also biological relatives. The information is rarely individual and can lead, for example, to stigmatisation. Where the information is shared in an uncontrolled manner, relatives may be suddenly confronted with a set of decisions for which they may be unprepared or which may impact significantly on their plans or interests. The societal implications of sharing information relate more broadly to the wider social and political context and the presence or absence of robust governance. The increased potential for sharing of information (due to improved technology and also increased availability of such information) may result in its unjustified use for purposes beyond the original aim of collecting such information. This in turn risks undermining the willingness of individuals to provide information which could be used for benefit of all, or to provide true and complete information.

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Question 4. As mentioned in the introduction, there are wide variations in the scope and methods of personal information sharing. What scope and what methods, in your view, pose the greatest opportunities or risks? Please explain the reasoning behind your response.

Comments: There are many opportunities, for example, medical research – population based and familial medical research leading to the understanding of complex disease, identification of new disease mutations and understanding of inheritance leading to new treatments and better counselling.

The scope and methods of sharing genetic information that pose greatest risk include the possibility of public access to others’ genetic information (even if anonymised) and the opportunity this could provide for ‘lay’ diagnosis if an individual had access to their own genome sequence. Thus the technological advances alongside public access bring both great opportunities as well as risks. Other risks relating to sharing genetic information include the potential for interference with personal relationships and family life (eg through familial searching within the NDNAD or deduction of non-paternity). Other limitations with the possible sharing of genetic information in relation to patient records include expertise in interpreting such data amongst different health care professionals. The main risks are in the context in which the information is provided, in particular where information with important health implications (e.g. predictive of disease) or personal implications (e.g. non-paternity) is provided in an uncontrolled way and without adequate counselling and information.

Question 5. Please provide examples of where, in your view, the public authorities hold too much data or not enough personal information, and the reasoning behind your response.

Comments: The HGC is currently considering the scope and use of information on the Home Office National DNA Database with a view to advising Government. Questions which the HGC will address include whether the scope and range of samples and profiles currently held on the database is appropriate and justified in relation to the purpose for which the database was established and its effectiveness in meeting its objectives. At present we are undertaking a “Citizens’ Inquiry” into the forensic use of genetic information, which will collect evidence from a wide range of sources in order to enable participants to identify, examine and discuss the key social and ethical issues involved. The inquiry will report in the Spring of 2008 and the findings will be published independently and contribute to a broader HGC report on the forensic use of genetic information, planned for later in the year. Both the inquiry report and HGC report are likely to contain findings and recommendations that are strongly relevant to your review and I should be happy to provide you with a copy of these as they become available.

Question 6. Please provide examples of where, in your view, private sector organisations hold too much personal information or not enough personal information, and the reasoning behind your response.

Comments: Please see comments in relation to question 5, as the National DNA Database comprises large amounts of data generated and held by companies in the private sector, which provide DNA profiling services.

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Question 7. Please provide examples of cases where you believe the sharing of personal information between two or more bodies would be beneficial, but where it is not currently taking place.

Please explain as fully as possible why information is not being shared, detailing what the barriers to the sharing of personal information are – e.g. legal, cultural, financial, institutional – and how these barriers can be overcome.

Comments: The Human Tissue Act prevents the sharing of genetic information without the consent of the sample donor. There may be cases where sharing genetic information in circumstances where consent cannot be gained, if for example the sample donor has died or contact is otherwise lost, would be beneficial to blood relatives. While sharing of patient records within the NHS is desirable, this should be balanced against privacy issues.

Question 8. Please provide examples of cases where you believe that personal information is being shared between two or more bodies, but where this should not be taking place.

Please describe the information-sharing concerned and why you believe it should not be talking place, including the risks involved in such information-sharing.

Comments: There is a fear amongst some that the insurance industry use data about an applicant’s genetic status gathered to investigate medical conditions, in respect of applications for insurance cover. There may be the possibility of this happening unofficially or inadvertently in some cases. Account should be taken of public perceptions as to the trustworthiness or otherwise of Insurers and similar concerns have been raised in relation to employers.

Section 3: The legal framework

Question 9. In your view, how well does the DPA work? Please outline the DPA’s main strengths and weaknesses and any proposals for changes you would like to see made, including suggestions for their implementation.

Comments: There may need to be further powers relating to implementation of guidelines and inspection especially as data are being held for as yet unspecified future use (eg by the large genetic epidemiological studies such as UK Biobank). The Commission has identified a need to reconsider whether there is a case for creating additional penalties for improper use of information in order to discourage such misuse and to reassure those providing information – especially genetic information – for the benefit of others, for example in projects of biomedical research.

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Question 10. In your view, how well do public authorities and private organisations adhere to the second principle of the DPA? [i.e. Personal data shall be obtained only for one or more specified and lawful purposes, and shall not be further processed in any manner incompatible with that purpose or those purposes] How valuable do you believe the second principle is? Please provide examples and the reasoning behind your response.

Comments: The second principle is very valuable as it acts as a constraint on use of personal information. Such constraint may become even more important as large-scale databases, including those with genetic information, are built up. The fact that information is held should not propel inappropriate or unnecessary access or sharing. (Also, see the comments in response to question 17).

Question 11. What technical, institutional or societal barriers stand in the way of the effectiveness of the DPA? Please provide examples.

Comments: No comment

Question 12. What further powers, safeguards, sanctions or provisions do you believe should be included in the DPA.

Comments: Greater powers of inspection to ensure that data are not being shared without consent or in an unjustifiable way. We would also wish consideration to be given to case for additional penalties for improper sharing or use of sensitive personal information, including genetic information.

Question 13. Are there any other aspects of UK or EU law (such as EU Directive 95/46/ EC) that impact positively or negatively on data sharing or data protection? Please provide examples.


Question 14. Are there any statutory powers unavailable that would enable better and more secure sharing of personal information– for example for identity authentication purposes – between a) public authorities and b) public authorities and private organisations? If so, what are they?

Please provide examples and any steps you believe could be taken to improve matters


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Question 15. Are there any parts of the legal framework that place an unreasonable burden on business? Please provide examples.

Please outline your proposals for streamlining the legislation to ensure that such burdens are minimised.


Section 4: Consent and transparency

Question 16. Is it clear whether and when you need individuals’ consent to share information about them? Are you clear about the form that consent should take? Please provide examples.

Please provide details of any initiative you have been involved in that has been based on consent.

Comments: The consent requirements in relation to the taking of DNA samples for paternity testing may not be understood in every case. Also the rights and of those providing voluntary DNA elimination samples to the police, and the possible consequences of doing so, may sometimes not be fully explained. The issues surrounding volunteer consent are currently being addressed by the NDNAD Ethics Group. (Also see the comments in response to question 17.)

Question 17. What, if any, barriers would a requirement for gaining consent create to the sharing of personal information? Please explain your reasoning.

Comments: The use of routinely collected health information for epidemiological research is one example where informed consent may create a barrier. Some forms of public health research could be made unviable if consent were to be insisted on. Other methods could be developed to provide a warrant or mandate for such research – for example more public engagement around data sharing for such research purposes, community consent, transparent governance arrangements. In relation to large scale genetic databases, the difficulties relate to open consent for future use and perhaps also the difficulties of truly informed consent about the nature of potential data linkage. Concerns also relate to situations in which the data subject is, or becomes, deceased or mentally incapacitated.

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Question 18. Do you have any suggestions on how to make the sharing of information more transparent?

For example, should individuals be given strengthened access rights? And if so, how? Should organisations be expected to do more to explain their use and sharing of personal information to the public? And if so, how?

Comments: Certainly, as above, organisations should explain their use and sharing of personal information to the public using the full range of public engagement techniques that are well developed in other fields.

Question 19. How can we best ensure that information sharing policy is developed in a way that ensures proper transparency, scrutiny and accountability?

For example:

In your view, how valuable is the Information Commissioner’s recently published Framework code of practice for sharing personal information (http://www.ico.gov.uk/ upload/documents/ library/data_protection/detailed_specialist_guides/pinfo-framework.pdf)?

In your view, how valuable are privacy impact assessments along the lines announced by the Information Commissioner on 11 December (www.ico.gov.uk)?

Comments: We consider public involvement to be vital in the development of such policy.

Section 5: Technology

Question 20. What impact in your view have technological advances had on the sharing and protection of personal information? Please provide examples.

Comments: There are both positive and negative impacts to consider. Technological advances make data sharing easier and therefore unauthorised sharing is more likely to occur. However, sophisticated encryption methods also make data more secure. Technology can make the detection of unauthorised access easier to trace because it can be monitored through an electronic footprint left behind.

Question 21. Should the law mandate specific technical safeguards for protecting personal information?

For example, should there be an explicit requirement that all personal information held on portable devices be encrypted to a particular standard?

Comments:

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http://www.ico.gov.uk/upload/documents/library/data_protection/detailed_specialist_guides/pinfo-framework.pdf)?

http://www.ico.gov.uk/upload/documents/library/data_protection/detailed_specialist_guides/pinfo-framework.pdf)?

http://www.ico.gov.uk)?

Question 22. How, in your view, could ‘privacy enhancing techniques’, such as the anonymisation or pseudonymisation of personal information, help safeguard personal privacy, whilst facilitating activities such as performing medical research?

Is sufficient advice about the deployment of such techniques available? Are you confident about using them? What are the barriers to using them?

Comments: For the purposes of biomedical research, where irreversible anonymisation or pseudoanymisation is possible (insofar as it is realistically possible with genetic information) without compromising the quality of the results, we would suggest that encouragement might be given to these methodologies(i.e. making the information no longer ‘personal’ information) as an alternative to sharing personal information in these particular contexts.

Section 6: International comparisons

Question 23. Are you aware of any jurisdictions whose legal framework for sharing and protecting personal information contains features that could be useful in a UK context? Please provide examples.

Comments: no comment

Question 24. Do you have any international examples of good practice in the sharing of personal information that could or should be adopted by the UK?

Comments: no comment

Question 25. Do you have any knowledge of jurisdictions that have adopted a particularly permissive or restrictive approach to sharing personal information? What have the consequences of this been?

Comments: We believe that in Denmark, information relevant to medical treatment of family members can be shared without consent. As such, Denmark did not sign up to the genetic testing protocol of the Oviedo Convention.

Question 26. Are you aware of significant differences in public attitudes to the sharing of personal information in other countries? Please provide examples and an explanation for why you believe this to be the case.


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Section 7: Additional questions

Question 27. Are there any additional issues on the sharing of personal information and protection of personal information that this review should be considering?

Do any of these issues apply specifically to your sector?

Comments: We would emphasise our concerns about linking databases of genetic information, the potential for deductive identification and the consequences for individuals and their families.

Question 28. Please set out any additional suggestions or observations you have that you believe will be of assistance to the review.

Comments: In Inside Information, HGC took some trouble to define what is meant by personal genetic information. Reading ‘personal information’ here consistently with the DPA 1998 (as information that relates to a living individual who can be identified from that information or deductively from that information and other available information) we would note that genetic information about a deceased individual can have implications for living or future blood relations which should be taken into account (this applies to forensic use of information as much as to use in a healthcare setting).

My colleagues and I would be extremely grateful if you would keep us informed of progress of your review. I am happy for you to reproduce this response and to quote from it in your final report. To comply with the HGC’s open working style a copy of this response will be placed on the HGC’s website.

Yours sincerely,

Professor Sarah Cunningham-Burley Chair, Databases Monitoring Group Human Genetics Commission

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HGC response to a request from the Department of Health to gather information and provide advice about concerns relating to the introduction of free fetal DNA testing

Dr Mark Bale Deputy-Director, Scientific Development and Bioethics Department of Health Richmond House 79 Whitehall London SW1A 2NS


26 February 2008

Dear Mark

Re. Human Genetics Commission’s advice on free fetal DNA testing

In response to your letter of 17th December, the HGC agreed to gather information and provide advice about likely concerns relating to the introduction of free fetal DNA testing into clinical practice. Accordingly, we arranged a session at our recent plenary meeting in Cambridge involving three speakers (Dr Lyn Chitty, Consultant and Reader in Genetics and Fetal Medicine, Institute of Child Health, Dr Helen White, Senior Scientist, National Genetics Reference Laboratory, Wessex, and Professor Martin Bobrow, Professor of Medical Genetics at Addenbrooke’s Hospital, Cambridge) and an invited audience. (The audience included a number of representatives from the PHG Foundation, which has a project underway – due to report in Autumn 2008 -- to develop a strategy for the implementation of the technique for different health service applications and we heard from Dr Hilary Burton of the Foundation in relation to this.)

Summaries of the presentations and full minutes of the discussion will shortly be available on the HGC website but I write now to confirm the points on which the Commission were agreed following the meeting. I shall

respond, under separate cover, to the other issue raised in your letter in due course.

You will recall that the session on free fetal DNA was both lively and informative, and the discussion, first within the Commission and then involving the audience, revealed a range of opinion about the appropriate conditions under which the technique should be introduced as a clinical service.

In summary, the Commission’s advice is as follows: LL We find the technique to offer a promising diagnostic strategy for some specific conditions. We

recognise the great value to patients of having both an early diagnosis (at around seven weeks’ gestation), and one which is non-invasive and presents very little risk to mother or fetus compared with currently available alternatives. We also recognise the considerable technical challenges in developing the technique for new applications such as testing for chromosome abnormalities.

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LL However, we do not feel that free fetal DNA analysis has been sufficiently thoroughly evaluated as a test (rather than as an assay), i.e. for the specific purposes for which it is to be used, and we therefore find its introduction as a clinical service in some centres to be premature. In particular, the Commission is concerned that where the technique has found support among clinical professionals it appears to have entered the NHS as a service, with the implication that Trusts which refer patients for testing will receive a bill for a service which has not yet been properly evaluated.

LL We agree with Professor Bobrow’s proposal that independent evaluation of the technique should be carried out within the scope of a multi-centre research project with research ethics committee approval, in order to allow standardisation of conditions and parameters, such as indications, patient information and clinical pathways.

LL The observation relating to the way in which this technique has been taken up has highlighted an inconsistency of approach to the introduction of new diagnostic techniques. A well-developed pathway exists, via the UK Genetic Testing Network’s Gene Dossier submission process for tests for new genetic variations, but that route has not been followed in relation to free fetal DNA testing (which is essentially a new technique to test for established variations). We feel that similar concerns could arise in future with established assays being used for new purposes or entirely new techniques being applied for variations for which there is already an established test. As a minimum, we feel that there is a need for a clear and consistent distinction between when a test is being used within a research study or as part of an established service. This would bring clarity for patients and support the better development of services as well as providing a useful indication to service commissioners and research funders about appropriate allocation of resources.

LL It is recognised that there is a lack of readily identifiable sources of funds for what has been described as phase 2 translation in diagnostics, analogous to phase three clinical trials. This is a matter which would benefit from further discussion with relevant parties.

LL More broadly still, we recognise the potential for the technique to be offered outside an NHS setting, for example by commercial providers or over the internet, and we would re-emphasise the points made in our recent report More Genes Direct with respect to direct-to-public marketing. In particular, the capacity of this technique to identify fetal sex, raises concerns that it will be used for the purpose of sex selection for non-medical reasons. Its potential to resolve uncertain paternity may also constitute cause for concern where obtaining consent to the analysis of samples from a putative father is not carefully overseen.

I will be writing separately to Professor Sally Davies, Director-General of Research and Development at the Department of Health, to indicate to her that we feel further evaluation of this technique is a matter of priority.

I would welcome your thoughts on how the HGC can further assist the government in relation to antenatal screening and on broader issues within our remit.

As before, I am copying this to Gareth Jones, Anthony Whitehead (DIUS), Ros Skinner (Scotland), Rachel Brown (Wales) and David Galloway (NI).

Yours sincerely,

John Sulston Acting Chair, Human Genetics Commission

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HGC letter to the Director General for Research and Development at the Department of Health regarding funding for the evaluation of a new technique in antenatal testing for genetic conditions

Professor Sally Davies Director General, Research and Development Department of Health Richmond House 79 Whitehall London SW1A 2NS

27 February 2008

Dear Sally

Human Genetics Commission discussion of free fetal DNA testing

I write to ask you to consider giving priority to funding the evaluation of a new technique in antenatal testing for genetic conditions.

The Human Genetics Commission recently examined the relatively new technique of cell-free fetal nucleic acid testing, in which fetal DNA is detected in the pregnant woman’s serum. The technique is increasingly being considered as an alternative to antenatal screening for Down’s syndrome or for other common genetic conditions and has several potential advantages over established techniques.

At our recent plenary meeting in Cambridge, we heard from three speakers (Dr Lyn Chitty, Consultant and Reader in Genetics and Fetal Medicine, Institute of Child Health, Dr Helen White, Senior Scientist, National Genetics Reference Laboratory, Wessex, and Professor Martin Bobrow, Professor of Medical Genetics at Addenbrooke’s Hospital, Cambridge) and an invited audience. Summaries of the presentations and full minutes of the discussion will shortly be available on the HGC website.

The Commission agreed that the technique offered a promising diagnostic strategy for some specific conditions and recognised the great value to patients of having both an early diagnosis (from around seven weeks’ gestation), and one which is non-invasive and presents very little risk to mother or fetus compared with established alternatives such as amniocentesis and CVS.

The Commission therefore wished to see the technique complete a programme of systematic quality evaluation within the context of a multi-centre research project with research ethics committee approval, in order to support its wider introduction as a clinical service.

Commissioners agreed that evaluation of the test for use in the NHS was particularly urgent given the obvious potential advantages of the technique and likely demand for an early, non-invasive test from patients and patient groups. There is also concern that demand for these tests may be met in a less well-controlled manner before the technique is properly evaluated and the proper parameters for its use confirmed. This could happen, for example, through the private sector, where the capacity of the technique to determine fetal sex or resolve uncertain paternity adds an additional layer of ethical concerns.

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I would therefore like to suggest that you consider giving priority to funding a well-designed study to evaluate the clinical validity and clinical utility of the technique as part of an antenatal test for particular genetic conditions. We are aware that at least one application for research funding in this area is currently in progress and do not mean to support any particular proposal. Rather, we wish to emphasise the need for such research, and that the study be well designed and take into account the concerns we have identified.

I have written to Mark Bale of the Genetics Branch at the Department of Health setting out the Commission’s advice on cell-free fetal nucleic acid testing (copied to Gareth Jones (DH), Anthony Whitehead (DIUS), Ros Skinner (Scotland), Rachel Brown (Wales) and David Galloway (NI)). I am also copying this letter to Mark Bale.

Yours sincerely,

John Sulston Acting Chair, Human Genetics Commission

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hgc uk

Appendix F: Publications The following publications are downloadable from the HGC website (www.hgc.gov.uk) and in hard copy from the addresses stated.

Reports and publications

More Genes Direct: A report on developments in the availability, marketing and regulation of genetic tests supplied directly to the public Dec 2007 (ref 283841)



Fifth Report from April 2005 to March 2006

Making Babies: reproductive decisions and genetic technologies January 2006

www.hgc.gov.uk




Fourth Report from July 2003 to April 2005


Profiling the newborn:

a prospective gene technology?

March 2005

Human Genetics Commission Sixth Annual Report, 2007 (ref 287420)

Human Genetics Commission Fifth Annual Report, 2006 (ref 277332)

Making Babies: reproductive decisions and genetic technologies Jan 2006 (ref 272321)*

Human Genetics Commission Fourth Annual Report of the Human Genetics Commission, 2005 (ref 269491)

Profiling the newborn: a prospective gene technology? March 2005 (ref 267377)

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Choosing the future:

genetics and reproductive decision making

July 2004


Genetic information, public consultation

Second Annual Report of the Human Genetics Commission

2002


Our genes, ourselves: towards appropriate

genetic testing

Third Annual Report of the Human Genetics Commission

2003


Debating the ethical future of human

genetics

First Annual Report of the Human Genetics Commission

2001

Genetic information, public consultation Second Annual Report of the Human Genetics Commission 2002 (ref 30449)

Choosing the future: genetics and reproductive decision making July 2004 (ref 40293)

Inside Information: Balancing interests in the use of personal genetic data May 2002 (ref 27907)

Genes Direct: Ensuring the effective oversight of genetic supplied directly to the public April 2003 (ref 31433)

Our genes, ourselves: towards appropriate genetic testing Third Annual Report of the Human Genetics Commission, 2003 (ref 34587)

Debating the ethical future of human genetics First Annual Report of the Human Genetics Commission 2001 (ref 25256)

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Public attitudes to human genetic information People’s Panel Quantitative Study conducted

for the Human Genetics Commission

Whose hands on your genes? A discussion document on the storage protection

and use of personal genetic information


Whose hands on your genes? November 2000 (ref 228048)

Public attitudes to human genetic information March 2000 (ref 23992)

*Copies of this report can be obtained by writing to:

PO Box 777 London SE1 6XH Or by faxing: 01623 724524 Or by emailing: [email protected]

You can also download the reports from our website: www.hgc.gov.uk

Also available on the website: HGC press notices HGC plenary podcasts HGC meeting papers

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Keeping in touch

Tell us what you think We are always keen to hear what you think and would welcome your comments about any aspect of our work.

The Secretariat for the HGC is provided by the Department of Health and the Goverment Office for Science and may be contacted at:

The Human Genetics Commission 6th Floor, North Wellington House 133–155 Waterloo Road London SE1 8UG

If you would like to receive the HGC’s news and publications, please register your details with us.

Press enquiries: 07990 550026 or 020 8675 1066

Public enquiries: 020 7972 4351

Fax: 020 7972 4300

Email: [email protected]

If you contact the Secretariat by email, we would appreciate it if you could include your contact details. These will not be revealed to any third parties, but may be used to keep you informed of the work of the HGC, unless you state that you do not wish to receive any further information.


human genetics commission

Documents

human genetic knowledge

genetic discrimination

independent review

grounds of genetic difference

certain genetic conditions

forensic national dna

new context

commissions work