“i want to know what's in pandora's box”: comparing stakeholder perspectives on...
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RESEARCH ARTICLE
‘‘I Want to Know What’s in Pandora’s Box’’:Comparing Stakeholder Perspectives on IncidentalFindings in Clinical Whole Genomic SequencingAnne Townsend,1* Shelin Adam,2 Patricia H. Birch,2 Zoe Lohn,2 Francois Rousseau,3
and Jan M. Friedman2
1The W. Maurice Young Centre for Applied Ethics, University of British Columbia, Vancouver, British Columbia, Canada2Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada3Department of Medical Biology, Universit�e Laval, Canada
Manuscript Received: 2 April 2012; Manuscript Accepted: 6 June 2012
Whole genomic sequencing (WGS) promises significant person-
alized health benefits, and its increasingly low cost makes wide
clinical use inevitable. However, a core challenge is ‘‘incidental
findings’’ (IF). Using focus groups, we explored attitudes about
the disclosure of IF in clinical settings from three perspectives:
Genetics health-care professionals, the general public, and
parents whose children have experienced genetic testing. Analy-
sis was based on a framework approach. All three groups
considered practical and ethical considerations. There was
consensus that IF presented challenges for disclosure and a
pre-test patient–clinician discussion was vital for clarification
and agreement. The professionals favored targeted analysis to
limit data handling and focus pre-test discussions on medical
relevance. Their perspective highlighted ethical concepts of
justice and beneficence. The lay groups’ standpoint emphasized
autonomy and patients’ rights to choose what findings they
receive, and that patients accept the consequences of any poten-
tial anxiety and uncertainty. The lay groups also felt that it was
their responsibility to check genomic developments over time
with their original test results and saw patient responsibility as
an important part of patient choice. � 2012 Wiley Periodicals, Inc.
Key words: genomics; incidental findings; clinical whole geno-
mic sequencing; clinical ethics; autonomy; shared decision-
making; patient-choice; rights-responsibility
INTRODUCTION
Whole genomic sequencing (WGS) promises significant personal-
ized health benefits [Ashley et al., 2010] and its increasingly low cost
makes wide clinical use ultimately inevitable. Managing massive
datasets and highly complex clinical results, however, generates
practical and ethical concerns. A core challenge is ‘‘incidental
findings’’ (IF). We define IF as genetic anomalies unrelated to
thedisease forwhich the testingwasobtained thatmayhavemedical
or social implications beyond the individual, to their families or
society. In research studies, WGS yields frequent IF of varying
significance, someofwhich areneither robust nor clinically relevant
[Knoppers et al., 2006]. The goal of this article is to explore issues
concerning disclosure of IF in clinical settings from the perspective
of some stakeholders: Genetics health-care professionals, the gen-
eral public, and parents whose children have experienced genetic
testing. We examine our findings in the context of practical
considerations, and traditional ethical concerns of clinical practice:
Autonomy, justice, beneficence and non-maleficence [Tabor and
Cho, 2007; Sijmons et al., 2011], and against the backdrop of a
policy shift inhealthcare,which fosters the engagedand empowered
‘‘patient as partner’’ [Tuckett et al., 1985; Townsend et al., 2010;
Health Council of Canada, 2011]. This shift emphasizes the obli-
gation of clinicians to provide patients with the knowledge they
need for informed decision-making [Entwistle et al., 2010; Sijmons
et al., 2011].
Additional supporting information may be found in the online version of
this article.
Conflicts of interest: None.
*Correspondence to:
Dr. Anne Townsend, PhD, The W. Maurice Young Centre for Applied
Ethics, University of British Columbia, 235 - 6356 Agricultural Road,
Klinck Building, Vancouver, British Columbia V6T 1Z2, Canada.
E-mail: [email protected]
Article first published online in Wiley Online Library
(wileyonlinelibrary.com):
DOI 10.1002/ajmg.a.35554
How to Cite this Article:Townsend A, Adam S, Birch PH, Lohn Z,
Rousseau F, Friedman JM. 2012. ‘‘I want to
know what’s in Pandora’s box’’: Comparing
stakeholder perspectives on incidental
findings in clinical whole genomic
sequencing.
Am J Med Genet Part A.
� 2012 Wiley Periodicals, Inc. 1
In research studies, either full disclosure or complete non-
disclosure of IF is problematic [Ravitsky and Wilfond, 2006;
McGuire and Lupski, 2010]. Failure to disclose medically relevant
IF cannot be ethically justified [Ravitsky and Wilfond, 2006], and
full disclosure requires bioinformatic power and analytic expertise
beyond the reasonable scope of most research projects [Cho, 2008;
Van Ness, 2008; Wolf et al., 2008]. Whole exome IF have been
communicated to research participants, but the laborious strategies
are too time and cost-absorbing for clinical encounters [Hens et al.,
2011; Mayer et al., 2011; Sharp, 2011].
However, the lay public appears to favor receiving IF data. A
recent study surveying public attitudes regarding IF from hypo-
thetical clinical pharmacogenomic testing found that 69% of the
public wanted information indicating unclear risk and 96%wanted
information about serious and treatable diseases [Haga et al., 2011].
This tension has stimulated proposals to stratify findings according
to medical relevance, actionability, and probability. Options iden-
tified include: (a) Routine disclosure of IF with clear clinical utility,
including early-onset and treatable conditions; [Berg et al., 2011;
Mayer et al., 2011; Netzer et al., 2009]; (b) elective disclosure at the
discretion of the patient for IF relating to untreatable conditions
or disease carrier status; [Netzer et al., 2009; Berg et al., 2011]; and
(c) non-disclosure of IF with no or unclear medical relevance, the
rationale being that this would be a poor use of resources and may
cause more harm than benefit [Berg et al., 2011]. Others have
suggested that patients’ evaluation of the personal utility of genetic
information should inform IF disclosure in findings of unclear
medical utility [Grosse andKhoury, 2006; Lavieri andGarner, 2006;
Foster et al., 2009].
Although the literature identifies practical and ethical challenges
surrounding IF disclosure in research settings, no current
guidelines exist for implementation of WGS and the associated
challenges of IF in a clinical setting. Our study represents an
initial step in understanding and comparing parent, public, and
professional perspectives of IF and their implications for clinical
practice.
MATERIALS AND METHODS
We conducted three focus groups in Vancouver, Canada, in
June 2011. To gain diverse perspectives, the groups comprised:
(1) Genetics health professionals; (2) members of the public; (3)
parents of a child with intellectual disability who had undergone
extensive but inconclusive genetic testing.We contacted 24 genetics
health professionals at a tertiary care hospital, via emails, of whom
ten participated (five men and five women): Physician geneticists
(3), genetic counselors (3), laboratory cytogeneticists/molecular
geneticists (4). The parent group was recruited from families who
recently consulted the Provincial Medical Genetics Program at the
same tertiary care hospital. Of 25 families contacted, five mothers
and three fathers participated. The lay public group was recruited
locally through newspaper advertisements, community-flyers, and
word-of-mouth. The sevenwomen and threemen self-identified as:
(non-genetics) Health professionals (4); students (3); unemployed
(2); homemakers (1). All reported limited knowledge ofWGS. The
studywas approved by theUniversity of British Columbia Research
Ethics Board.
Data CollectionWe used focus groups to understand people’s views and attitudes
[Kitzinger, 1995] and to compare public and professional view-
points [Rabiee, 2004]. The groupswere homogeneous to encourage
discussions, [Krueger, 1994] and had optimum participant num-
bers of between 8 and 10 [Rabiee, 2004]. Three groups were
sufficient, as our aimwas not theoretical saturation, but to generate
adequate exploratory, multi-perspective data [Burrows and
Kendall, 1997; Rabiee, 2004].
Both lay groups completed brief demographic questionnaires
(see Supplemental data in Supporting Information online). All
participants gave written consent. Focus groups lasted approxi-
mately 90minutes, were audio-recorded andwere conducted at the
hospital (genetics professionals), and at local community centers
(lay groups). A 7-min film, ‘‘Sequence Me’’ [Aulakh et al., 2010]
began the lay sessions to familiarize discussants withWGS and IF. A
one-page summary of WGS, distributed previously, was available
for reference (see Supplemental data in Supporting Information
online) and one of the author’s offered clarification, prior to and
during discussions. Parallel topic guides were used across groups
(see Supplemental data in Supporting Information online). The
guidewas developed after reviewing the literature and content from
two public discussions on WGS held in local caf�es in November
2010 [Adam et al., 2011]. The guide had three main sections:
Disclosing IF to patients, the impact of genetic information, and
summary of group discussion. Prompts and probes were used to
encourage discussion and elicit detail. One author (A.T.) facilitated
and one author (S.A., P.B., or Z.L.) acted as scribe-observer in each
group.
Data AnalysisVerbatim transcripts of the audio-recordings were made, verified,
and identifiers removed. Analysis was iterative and thematic.
With no a priori codes identified, transcripts were read by
at least two researchers independently. Each short section
(1–2 sentences) of text was annotated noting emergent issues.
Annotations were discussed amongst the team, and initial broad
codes developed. Codes (17) were checked for consistency across
transcripts and field notes, and agreed upon. Data were transferred
to the software packageNVivo8, designed to aid qualitative analysis
[Bazeley, 2007]. Matrices were formulated from the original
codes using data extracts, and checked for consistency. The
process of ‘‘code to themes’’ involved discussion around strong
‘‘across group’’ validation, ‘‘sensitivity’’ [Lester et al., 2005];
amount of talk, spontaneity of talk, consensus within groups,
and diverse views. Fourteen themes emerged from the code-based
matrices and comprised the thematic framework. Five themes
predominated.
RESULTS
The participants identified practical and ethical issues surrounding
the disclosure of IF. We focus on the five dominant themes that
emerged: Pre-test discussions; patient choice; responsibility; com-
municating IF; impact and implications of IF.
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Pre-Test DiscussionsAll groups agreed that pre-test discussions were crucial to facilitate
patient informed decision-making about disclosure options, in
order to avoid ‘‘surprises’’ of IF. All groups agreed that discussions
should include ensuring patients recognize the primary reason for
testing, and understand the potential for IF, data of unknown
significance and the associated potential for anxiety and uncertain-
ty. All groups also recognized practical problems of IF: Managing
extensive, complex and uncertain data of questionable relevance.
All groups agreed that a strategy for managing data was to
categorize IF according to type. But there was no clear consensus
between or within groups on criteria of categories. Clinical rele-
vance dominated the professionals’ discussion, relating to serious-
ness of condition, urgency (needing treatment), treatability, and
probability (risk for the disease). In contrast, however, neither lay
group agreed that disclosure be based on clinical relevance alone.
They maintained that because individuals interpret ‘‘relevance’’
and ‘‘seriousness’’ differently, patients shouldnot bepresentedwith
pre-categorized packages that had been filtered by professionals,
because professionals should not decide about relevance on
patients’ behalf.
Although cognizant of patient choice, the professionals main-
tained that only particular test data be analyzed to avoid problems
of handling extensive data, and to limit IF. One professional
suggested: ‘‘put on blinders . . . explain to the patient that certain
datasets will simply not be looked at and we will not be held
accountable for mutations in other genes that we don’t look at’’
(Professional-6). There was professional consensus illustrated in
the following quote: ‘‘. . . we may as a community be exceptionally
well served by a deep investment in limiting the possibility of
clinically relevant IF when we put together our testing. . . focusingour focus. . .’’ (Professional-9).
This strategy would restrict pre-test discussions based on a priori
limitations imposed on the analysis. The data could ‘‘be analyzed
for. . . a set of genes that could account for aheterogeneic condition-’’ (Professional-6).Theprofessionals suggested that testing couldbe
categorized as either diagnostic, screening or ‘‘fishing’’ tests and
‘‘fishing should be research’’ (Professional-6). The professionals
described how limiting the analysis would reduce potential harms
and be beneficial to patients (e.g., minimize undue worry), the
system (avoid unnecessary additional tests), and clinical practice
(reduce problems of patient-doctor communications relating to
disclosing complex data of uncertain meaning).
Lay groups also recognized challenges in handling complex
datasets. However, they highlighted that scientific uncertainty of
IFmust be discussed pre-test to support patientsmake an informed
decision about options: ‘‘. . . in that initial discussion you
(professional) have to point these things out, that maybe stuff
isn’t. . . well hashed out’’ (Public-M1). Significantly, both lay
groups emphasized their desire to have the choice to learn about
the probability of conditions that may develop, so they could
choose whether to live with uncertainty: ‘‘There should be some
kind of informed consent being given around howmuch informa-
tion the patient is looking for. . . If there are potentially pie-in-the-sky results, do you want to be told things that may or may not
happen? Or do you want to be told everything?’’ (Parent-F2). For
the lay groups, it was important that they were able to undertake
a ‘‘risk analysis’’ themselves (Public-M3), rather than have the
professionals make decisions on their behalf.
Patient ChoiceAlthough the professionals supported patient choice, they empha-
sized that what patients want to know should be balanced against
what information they are entitled to have. One professional noted
that patients should have a ‘‘reasonable’’ amount of freedom in
deciding what they could know: ‘‘it’s a justice argument. The
resources are not yet sufficient to analyze all of that data and return
it in an understandable way’’ (Professional-3). The professionals
also felt that full IF disclosure wouldmean sharing extensive data of
unknown significance that couldbeburdensomeormeaningless for
patients. The professionals expressed some tensions between prac-
tical and ethical considerations as they differentiated between what
patients would be offered and what they should be offered: ‘‘That’s
part of the frustration, what do we want to not reveal. . . [that] thepatients want to have? We probably shouldn’t give them their
sequence. Although, it’s basically their property. . . It’s going to
be very difficult to say no to that’’ (Professional-4). Following a
discussion about filtering data as a strategy to handle extensive and
uncertain data, one professional noted this could be problematic:
‘‘. . . I think if you tried to be paternalistic and dictate there were
things that we shouldn’t tell them then you may get a lot of push
back from patient advocacy groups’’ (Professional-8).
The lay groups also discussed practical challenges of data
handling and disclosure of IF. However, they prioritized patient
choice around whether to be informed about a potential future
disease, rather than have a clinician decide. The following dialogue
illustrates this point:
Public-F6: ‘‘. . . If something is going to affect me later. . . [so I]
live my life differently. . . I don’t know if I want to know. . .Public-M2: But would you want to have the power to say yes
or no?
Public-F6: Of course! Yes, definitely!
The lay groups expressed concerns about paternalism and
opposed professionals filtering data. They conveyed how opposi-
tion to professional control (or paternalism) extends beyond
advocacy groups, but is a more general cultural shift in patient–doctor relationships and the emergence of the autonomous patient
as consumer: ‘‘Remembering much earlier times. . . doctors wouldnot tell people what they had because they felt it would upset
them too much. . . this is a fairly new thing, the patient’s rights’’
(Public-M2).
For the public, the primacy of patient choice was associated
with ownership: ‘‘I’m wondering why is it even an issue of the
doctor having a say? I mean it’s your genome. It’s your body. . .’’(Public-F6). They indicated the importance of control and that
nobody was entitled to make decisions for them:
‘‘. . .we get back to the whole issue of choice.Who’s position is it
to dictatewhat kind of knowledgewehave about ourselves, whether
it’s medical or otherwise?. . .Not to have that choice to know about
yourself. That. . . is an element of control that I don’t want anybody
having other than me. . .’’ (Public-F9).
TOWNSEND ET AL. 3
The parents agreed. Patient choice was key, to control their
bodies, health, lives, and genomic information: ‘‘You say [to]
geneticists: (A) ‘‘I don’t want to know what the incidentals are’’
or (B) ‘‘I want to knowwhat they are and I’ll deal with it’’. But either
way, you’re dealing with it’’ (Parent-M3). There was widespread
agreement across both lay groups that patient choice, underpinned
by autonomous decision-making, and not clinical relevance should
be the criterion for disclosure. In contrast, key issues for the
professional group were avoidance of potential harm to patients
(by causing confusion and anxiety), justice issues in the face of
finite resources, and pragmatic concerns of handling complex and
uncertain data.
ResponsibilityPatient responsibility was discussed across groups. All agreed,
resources would be insufficient for clinicians to track genomic
developments and inform patients of any implications for their
originalWGS. There was consensus that patients should be respon-
sible to track developments and re-contact clinicians about their
original sequencing as new genomic knowledge emerged. For
the professionals this was for practical reasons: ‘‘You can certainly
put the onus on the patient. . . but I don’t think that you can put
the onus on the lab or the physician’s office to retroactively review
all of their cases where ‘‘X’’ variant was found because now there
is this new information on ‘‘X’ variant’’ (Professional-8).
The lay participants recognized physicians’ workloads, but went
beyond practical limitations in their discussion. They strongly
associated patient responsibility with choice. They suggested strat-
egies to support patient engagement illustrated in the following
(public) exchange:
Public-F6: ‘‘What if once a year there was a reminder. Do you
have to do your taxes? Have you checked your genome sequencing
yet? . . .Public-F9: . . .There’s only so far your own physician and the
medical system can go to keep you informed in terms of the
advances in medical science. . . if we are our own best advocates,
we need to take the responsibility for ensuring that we keep up to
date. . .Public-F7: It’s another aspect of choice. You choose to keep up
with it, or you choose to ignore it’’
The parents elaborated: ‘‘You can’t manage your own health or
your child’s health if you don’t have all the information. . . thewhole report. . . It’s available and could be referred to if
those circumstances arose. You just have to be responsible. . .’’(Parents-F2).
The parents discussed how amutual patient–clinician responsi-bility is needed. This required that clinicians trust patients to
be responsible. They described how clinicians’ responsibility to
patients involved ‘‘standing back,’’ and recognizing that patients
behave ethically too:
Parent-F2: ‘‘. . . themedical ethics board has the responsibility to
ensure that the medical community. . . behaves ethically. . . thenyou [clinician] have to step back and let go of the responsibility
for how the information is used by the family or by the
patient. . . Because. . . it’s been my experience occasionally that
professionals. . . have a tendency to ‘‘father knows best’’ you. . .
I. . . feel very strongly that you don’t get to impose your moral
standards and I expect you to behave ethically and expect you to
assume I will behave ethically’’.
(Parent-F1 & F2 nodding in agreement).
Parent-MI: I agree wholeheartedly with what you said.
Communicating IFAll groups noted that sensitive and comprehensive patient–clinician communication was vital when disclosing IF. The
professionals described how time, care, and skill were necessary
to explain the potential for risks and benefits of IF. This would
have implications for non-genetics specialists: ‘‘. . .when there are
these risks, it needs to be very clear to the personwho is explaining it
to the patient, what are they and why. . . [they will need] a deeperlevel of knowledge about the test than maybe they have now’’
(Professional-8). The professionals agreed that general practi-
tioners (GPs) would have limited expertise and training to disclose
IF to patients due to the extensive and highly complex, specialized
knowledge involved. The parents concurred: ‘‘Sometimes you need
these things translated. . . My concern would be. . . are all GPs. . .able to interpret the results of the testing?’’ (Parents-F1). The
public agreed that clarity of results was key. Using probability as
an example: ‘‘If I was told I had 0.03% chance of potentially having
heart disease. . .when I’m between the ages of 40 and 60. . .what doyou do with that?. . . I think you have to sit down and have a
specific. . . definite written out conversation with your physician’’
(Public-F6).
In contrast to the professionals, the lay groups’ concerns went
beyond the communication and interpretive skills of the clinician
in delivering the information to ensure patient understanding.
The public participants emphasized a range of knowledge transla-
tion activities involving active participation and resources to suit
people’s diverse needs and learning styles. The public suggested a
dialogue, which fostered opportunities for patients to self-educate
and seek out more information, informed by the engaged and
informed ‘‘expert’’ patient:
Public-F7: ‘‘I would like to see literature developed, so that when
you go to a physician and you have. . . a question. . . the physiciancan say ‘‘Would you like to read this book on this problem? Do you
want to make the investment to know what is known about this
problem? If so, go to this website, pull down these papers.’. . .Rightnow, we don’t have that, because you go to the doctor and you have
a 10-min conversation. That does not do it. . . . you want to read
about that one and become your own expert. . . .’’The possibility of patients having access to the rawdata, over and
above thedisclosure of targeted resultswas onepotential solution to
handling and disclosing extensive complex data. This strategy was
solidly endorsed by the parents and public, but generally opposed
by the professionals who had concerns that releasing raw data
would invite costly and unnecessary follow-up tests and potentially
be damaging for the ‘‘worried well’’. However, one professional
noted that releasing raw data would be an ethically acceptable
strategy to balance limited resources and patient choice:
‘‘If we handed someone their genome on a hard drive if they ask
for it. . . and say, ‘‘bye, see ya later’’.. . . I don’t see anything ethicallywrongwith that. . ..Whereas someone. . . saying, ‘‘Iwant tobe at the
4 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
front of the line and get my genome analyzed, when there’s
hundreds of people with bona fide likelihood of high risk rare
variants, it’s not quite the same’’ (Professional-3).
Therewas strong consensus in the lay groups that being given the
‘‘raw’’ data should be a fundamental practice based on patient
ownership of data and the informed patient’s right to choose when
and what to know: ‘‘. . . you take it [‘‘raw’’ data] home. In 5 years,
you take it back. . . and say: ‘‘Now I want to know what was in
Pandora’s box’’ (Parent-M3). This phrase underlines the strong
preference expressed by the lay groups to have the option of
accessing results regardless of what those results might be e.g.,
the potential to induce anxieties. Data could be stored securely on
the Internet, where a patient could access it: ‘‘Like a card you swipe
at Shoppers Drug Mart’’ (Public-F6).
Impacts and ImplicationsAll groups discussed the potential impact of the disclosure of IF.
Anxiety was a key consideration. Professional concerns about
patient anxiety outweighed parent and public concerns. The
lay groups acknowledged the potential for IF to induce anxiety.
However, they maintained that it was patients who should assess
impact for themselves; their right to choose what to know out-
weighed any personal risk of anxiety: ‘‘I don’t want to live in the
kind of society where the doctor tells me only what he thinks I
should hear because I might be too sensitive. I need the facts. I have
to be responsible for my health’’ (Parent-F2).
All groups expressed the potential risk of discrimination. They
highlighted confidentiality requirements and the need for secure
databases to guard against genetic discrimination, particularly
regarding insurance and employment: ‘‘. . . policing the database
would be necessary. . . There’s lots of agencies wanting to know
about it, insurers andmedication manufacturers. . .’’ (Public-M3).
The professionals elaborated on cultural dimensions:
‘‘There is an impact . . . far distant from the individual. . .medically as well as socially. . .cultures [that] have a lot of difficultydealingwith illness. . . issues related to spousal choices orwhere youfit in the hierarchy of society based on your genetic test results’’
(Professional-1).
All groups concurred that inheritance issues made disclosure of
IF more complex. The public was undecided about solutions but
acknowledged that inheritance presented problems for physicians:
‘‘. . . the biggest thing. . . is. . .physicians having a problem: ‘‘Do I
disclose to other familymembers?’’ That’s where the confidentiality
issues arise. If you find something that’s definitely inheritable. . .do you tell everyone? . . . What if they don’t want to know?’’
(Public-F6).
The professionals noted that inheritance issues highlighted
differences between the clinician and parent perspective and
some advocacy groups might make the argument ‘‘that. . . in
some cases this is their children’s information and they are their
child’s guardian and so it doesn’t matter that we don’t agree with
testing in children, they [feel they] shouldbe able to consent for it. . .(Professional-8).
The parents maintained that they were advocates for their
dependent children and should be trusted to be responsible with
any information relating to them. When discussing disclosure to
other family members, there was no consensus in the parent group.
As the following exchange illustrates:
Parent-F2: ‘‘if you have testing done it’s your personal
information. . . a third party doesn’t get to come along and say
‘‘I don’t [agree] that you don’t want to tell, these people [family
members] all get to know’’. . . It’s what I said, the medical board
behaves ethically and they trust the patients to behave ethically’’.
Parent-M3: ‘‘Well it’s a tough one’’.
Parent-F1: ‘‘Yeah. I don’t see it as black and white’’.
DISCUSSION
This study about IF disclosures in clinical WGS, presents the
first comparison of views between: Genetics professionals, experi-
enced parents, and members of the public. We reported on
five themes: Pre-test discussion; patient choice; responsibility;
communicating IF; impact and implications of IF. Groups identi-
fied practical and ethical challenges and suggested potential
(and partial) solutions to limit dilemmas of IF, seeing pre-test
discussions as key.
The professionals agreed that WGS should involve limiting the
data for analysis and discussion with patients by ‘‘focusing the
focus’’ of the test, as it was unrealistic to include all data in pre-test
discussions; itwouldnot benefit patients and couldbeburdensome.
The lay groups acknowledged practical challenges of handling
extensive, uncertain data, but emphasized patients’ rights to be
informed to facilitate choice. These contrasting perspectives reflect
the challenges to shared decision-making in reality, and the litera-
ture on genetic and non-genetic clinical encounters in an era of
increasing patient empowerment and health consumerism [Smets
et al., 2007; Foster et al., 2009; Townsend et al., 2010; Sijmons et al.,
2011].
Reflecting the literature, the groups agreed that categorizing
disease types into ‘‘packages’’ would be an effective strategy to
organize the data for discussion and patient selection. [Netzer et al.,
2009;Berg et al., 2011;Mayer et al., 2011]. Broadly, theprofessionals
based categorization on medical relevance but the lay groups
emphasized how medical relevance was subjective. Other studies
have shown a public preference for disclosure of IF in general
[Murphy et al., 2008; Bloss et al., 2010]. These results challenge the
professional preference of organizing disclosure of IF around
medical relevance, by raising issues of personal preference and
prompting questions such as: Relevant according to whom?
A novel and potentially significant finding, was the lay groups’
emphasis that patients be responsible for tracking scientific devel-
opments and monitoring their original test results. While the
professional group also discussed this possibility, justice issues
(finite resources) informed their view. In contrast, the lay groups
drew on notions of ‘‘patients as partners’’ in healthcare with
responsibilities, and rights to information and choice underpinned
by the concept of autonomy [Foster et al., 2009]. This reflects the
broader policy lexicon of ‘‘engaged patient/consumer’’ [Mead and
Bower, 2000; Health Council of Canada, 2011]. Also, given limited
resources, the lay groups strongly supported having access to ‘‘raw’’
data, highlighting the notion of patients as consumers in healthcare
[Smets et al., 2007; Gillette, 2008] and empowered co-managers
whoowned their data [Foster et al., 2009].The allusion toPandora’s
TOWNSEND ET AL. 5
box by amember of the public (M3) exemplifies the priorities of the
lay groups. The Pandora’s box metaphor also crystallizes the
contrasting perspectives of the professionals and lay groups. To
the lay groups, Pandora’s box had already been opened by geneti-
cists (patient’s genomic information is available to the geneticists)
and based on notions of ownership (their data, their bodies) the lay
groups strongly agreed they should also have access to the data, and
be free to choose to deal with any negative impacts, e.g., anxieties
and problems which may emerge, rather than have a health
professional decide. While all groups recognized the potential
for negative outcomes of such information, contrasting views
illustrated a preference for autonomy by the lay groups, and
beneficence by the professionals. This paternalism expressed by
the geneticists’ group could be seen as an attempt to keep the box
closed (or to somewhat regulate its opening) and prevent the regret
that the mythical Pandora felt after opening the box; essentially the
duty to do no harm.
The cross group concerns that GPs are currently inadequately
trained to communicate IF to patients reflects the literature
[Guttmacher et al., 2010; Haga et al., 2011] and reinforces research
on patient-provider communication more broadly [Townsend
et al., 2010]. The lay groups’ suggestions regarding innovative
and interactive disclosure strategies mirrors previous calls for
accessible resources [Kohane et al., 2006; Veenstra et al., 2010;
Bredenoord et al., 2011]. The added complexity of inheritance in IF
disclosure identified by all groups, reinforces the literature
[Bradbury et al., 2008; McGuire et al., 2008; Tarini et al., 2009;
Chadwick, 2011; Dimmock et al., 2011; Tercyak et al., 2011].While
many of these factors are not new challenges in medical genetics,
pursuing WGS may amplify the need to consider them.
This study offers new insights into IF of clinical WGS but is
limited in scope. We draw on three focus groups in Vancouver and
do not make claims of generalizability. The limited sample means
that some viewpoints might have been missed. For example, the
focus groups did not capture the views of non-genetic physicians.
Another consideration is that of bias of ascertainment: Both lay
groups may have volunteered because they wished to be actively
involved inhealthcaredecision-making.Also, othermembersof the
lay public maywell prefer not to be faced with a choice about which
types of genomic information to receive, andwould rather have the
analysis limited to findings that have clear clinical utility. The one-
page summary ofWGS prepared for the lay group discussions used
lay language with a minimum of scientific detail, and a research
team member clarified WGS prior to and during discussions.
However, discussions were necessarily based on more general
principles of information sharing and decision-making, and the
detailed complexities of science were kept to a minimum, which
could have influenced the balance of the discussion. It is also
possible that the lay participants had preconceptions that reflect
more popular views rather than the science of genomic IF. Also,
although issues involving impacts of IF on family members were
discussed, this remains a topic to be more fully explored. However,
in this exploratory study, we achieved our aim of bringing new
knowledge to this under-researched area by comparing three stand-
points. The themes identified were broad and avoided technical
detail, to enable comparisons with members of the public. The
discussions offered insights into the strength of views held by our
participants, the level of agreement, and what underpinned
participants’ perspectives.
In conclusion, the opposing views of the lay and professional
groups illustrated tensions between ethical principles [Gillon,
2003]. The professionals maintained that the optimum way to
handle IF was to avoid them by ‘‘blinding’’ the data for analysis,
and limit pre-test discussion and patient options. They prioritized
effectively managing limited resources alongside reducing patient
burden; their perspective highlighted ethical concepts of justice and
beneficence/non-maleficence. The lay groups emphasized autono-
my, patient choice, and responsibility. They underlined their desire
to be able to choose for themselves whether to not to live with
anxiety and uncertainty, and not have a clinician decide. They
suggested practical solutions to IF that supported informed
decision-making, fostered empowerment, and reflected health
policy of the engaged and informed patient more generally. Our
findings suggest that pre-test discussions should not by driven by a
priori clinical relevance but need to reflect the shift to patients as
fully informed partners and be a shared venture between the
clinician and patient, built on trust and responsibility. Given
the practical challenges, further investigation is required to deter-
mine how such sharing of information and decision-making can be
achieved.
ACKNOWLEDGMENTS
We are grateful for support for this research from APOGEE-Net/
CanG�eneTest Research and Knowledge Network on Genetic Health
Services and Policy, and the British Columbia Clinical Genomics
Network. We thank the focus group participants for their frank and
insightful comments.
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