1. Ethical Issues in Genetics
and Pre-Implantation
Genetic Diagnosis
Dr Ainsley Newson
Centre for Ethics in Medicine
University of Bristol

2. 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?

3. 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

4. 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

5. 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

6. Predictive testing in children
3 key arguments against testing:
1. Testing fails to respect future autonomy
2. Testing young people breaches
confidentiality
3. Testing may cause psychological harms
• Family bonds
• Impact on self-esteem and feelings of adequacy
• But: little empirical evidence for either position

7. 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?

8. 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?

9. 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

10. 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

11. 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?

12. 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?

13. 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

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