Ethical Issues in Genetics and Pre-Implantation Genetic Diagnosis

Dr Ainsley NewsonCentre for Ethics in MedicineUniversity of Bristol

Ethics and genetics…• Can confidentiality be breached to warn relatives?• When is it ethical to offer genetic testing or screening?

– Should couples have access to genetic information when deciding whether to continue a pregnancy?

– Should we let young adolescents have genetic tests to tell them about their future health?

• What should be done if a testing indicates ‘non-paternity’?• Should we use PGD to help couples avoid having a child

who will be deaf?• Should insurers

have access to genetic information?

Genetic information…• Is there anything special about ‘genetics’?

– Uniquely identifies people (except twins)

– Shared with families

– Predictive of future health

– Easily obtainable

– Available before birth

– May be of interest to third parties

Ethics and genetics…• Common ethical themes and principles in clinical

genetics:– Non-directiveness

• Value-neutral practice

– Confidentiality: individuals and families

– Promoting informed consent

– Avoiding psychological harm

Confidentiality & non-disclosure• Confidentiality is important

– Promotes trust and honest exchange of information

• What should be done if there are implications for other family members and consultand won’t tell?– Who ‘owns’ the information?

– Breaching confidentiality sometimes sanctioned• Intervention available; Identifiable

party at risk; Benefit outweighs harm; Time?

• Happens rarely in practice

Predictive testing in children3 key arguments against testing:

1. Testing fails to respect future autonomy2. Testing young people breaches

confidentiality3. Testing may cause psychological harms

• Family bonds• Impact on self-esteem and feelings of adequacy

• But: little empirical evidence for either position

Prenatal testing & ‘minor’ conditions• Traditionally, PND offered for ‘serious’ genetic

diseases– Early onset, poor prognosis, low quality of life

• Now: less risk in testing; more genes known– PND sometimes offered for:

• achondroplasia, deafness, BRCA

• What should be taken into account in deciding whether to perform PND?– Medical opinion?

– The ‘lived experience’ of the condition?

Misattributed Paternity• Genetic testing sometimes throws up unexpected

information, eg misattributed paternity• Should people be given unexpected non-medical

information they have not requested?– Increase autonomy by having full information?

– Father’s right to know?

– Potential for harm?

– Scope of clinical genetics services?

• Who should be told?

Implications for insurance• UK: Moratorium on the use of predictive genetic

test results until 11/2011– Over these limits: can only use approved tests

• Only HD approved to date, BRCA expected

– Can use negative results to counter family history

– Cannot be asked to have a genetic test

– Cannot be asked to disclose a relative’s result

– Do not have to disclose results obtained after policy starts

PGD compared with PND• Some couples choosing PGD have made difficult

decisions about termination of pregnancy and are keen to avoid this difficult choice again

• PGD may be morally preferable to PND:– Ethically neutral choice: positive outcome (healthy

pregnancy) simultaneously balances the negative outcome (embryo destruction)

– Identification with an embryo is not as significant as an emotional connection to a foetus developing in the womb

Ethical issues in PGD• Status of the embryo

– Do full human rights begin at conception?

– Is destruction of unsuitable embryos wrong?

• Reproductive freedom vs. social interests– Does society have the right to dictate what

reproductive decisions individuals should make?

• Discrimination against those with disabilities– Does the use of PGD amount to a negative

valuing of people living with the condition being selected against?

Ethical issues in PGD (2)• Safety?

– Long-term safety not yet demonstrated

– More evidence required

• Resource Allocation?– PGD is expensive

• Psychological harm to parents and child– Very stressful process

– Knowledge of procreative history: effect on future child?

Contentious applications of PGD• Preimplantation tissue typing

– Concerns and child welfare

• Sex Selection– Concerns about sex ratios and

gender stereotypes

• Selecting for non-medical traits– Concerns about ‘slippery

slopes’ and expectations on children

On the horizon…• Pharmacogenetics• Near-patient genetic testing• Testing foetal DNA in maternal blood• “Personal genomics”• PGD for late-onset or multi-factorial conditions