Ethical issues and impact of the Human Tissue Act in Genetics

1. Ethical issues and impact of the Human Tissue Act in Genetics David Bourn Northern Genetics Service

2. Principles of Medical Ethics • Autonomy • patient to be in control of decisions • Beneficence • to do what is best for the patient • Non-malificence • not to harm patients • Justice • patient rights and access to health care

3. Genetic testing • Same ethical principles apply as for other clinical investigations (respecting autonomy, avoiding harm, duty of confidentiality) • The nature of genetic investigations can give rise to complicated ethical problems where the correct course of action is not always clear cut

4. Genetic testing • Problems relating to: • implications for other family members • predictive testing including prenatals • carrier testing (testing in minors) • scenarios where unexpected or unwanted information is revealed • variable and low penetrance mutations • rare / unique cases

5. Principles of Medical Ethics • Autonomy- • whose? • Beneficence • benefit to which individuals? • Non-malificence • harm to which individuals? • Justice • includes access

6. Appropriate consent • Informed consent required from a competent adult or child willing to make a decision • Consent from qualifying relatives where appropriate • Lab must have a reasonable belief that consent has been obtained • Consent is a fundamental principle of the Human Tissue Act • Also see JCMG document on consent and confidentiality ( http://www.bshg.org.uk/ )

7. Consent issues • Consent for testing • Consent for storage • Consent for information to be shared • Consent for use of sample as a control • Consent for use of sample for audit or developing new tests • Consent for use of sample in research

8. Consent for additional testing • Referrals for spinocerebellar ataxia • Can specify types (e.g. SCA6 only) or just ask for SCA testing • OK to use a multiplex for all referrals? • OK to test for Friedreich ataxia? • New SCA gene discovered- OK to test as part of a research project?

9. Consent for use of samples as a control • Predictive test for colon cancer • Unique MLH1 mutation in the family • What consent required to use an existing sample (held by another laboratory) as a positive control (disclosure of information has implications)? • Acceptable to use an anonymised sample labelled with the name of the mutation?

10. Consent for sharing of information • Patient X has a son affected with Duchenne muscular dystrophy. She is a known carrier • Her sister Y is pregnant but X does not want to share this information with her • Who owns the information and should X’s wishes be overridden? (Parker and Lucassen, (2004) BMJ 329: 165-167)

11. Who owns genetic information? • Two ways to look at this. Either personal information (personal account model) or familial (joint account model) • Default position assumption of confidentiality or assumption that information should be available to all family members?

12. Huntington disease predictive testing

13. Carrier testing in minors • 1) Should we offer carrier testing in minors? On what grounds could we refuse or agree to do this? What is the potential for harm / benefit? Are opinions changing? • 2) Should we report on the results of other investigations which may inadvertently show an individual to be a carrier? On what grounds could you withhold information from the family?

14. Linkage analysis- late onset dominant condition 2-1 1-1 3-3 2-4 2-3 1-4

15. Linkage analysis- late onset dominant condition 2-1 1-1 3-3 2-4 3-3 2-3 2-3 1-4

16. Should information regarding paternity be revealed? • 1) Where the information has come to light as a consequence of testing? • 2) Where information has been volunteered?

17. Parental choice • A couple with a known genetic syndrome choose via PGD (pre-implantation genetic diagnosis) to select an embryo also predicted to be affected. Is this harmful to the child? • Should parents be allowed to select an embryo which will give a match for stem-cell donation to a sibling? • Should parents be allowed to select the gender of their child? Where should lines be drawn?

18. Prenatal diagnosis • Is termination of pregnancy acceptable where the fetus is shown to be at high risk of a serious genetic disorder? • What constitutes a serious disorder? • Should this include late onset conditions?

19. Human Tissue Act (HTA) of 2004 • Legislation in response to scandals including organ retention at Alder Hey • Aim to restore public confidence but balance with the needs of future clinical care, research and training • Consent is the central theme • See JCMG guidance on the BSHG website ( http://www.bshg.org.uk/ )

20. What the act involves • The HTA regulates the storage and use of material which includes human cells from living or deceased patients depending on the purpose for which that tissue has been taken • The act also sets out what constitutes appropriate consent • The Human Tissue Authority will license sites undertaking activities relevant to the act with a designated individual for that site

21. Other relevant legislation • Common law • Data protection act • Freedom of information act • Human fertilisation and embryology act • EU Tissue and Cells directive • Also need to take account of professional guidelines and established practice

22. Exemptions from the act • Residual extracted DNA is excluded from the act • Material taken from living patients and used for diagnosis and treatment is excluded • Existing holdings (prior to September 2006) are excluded • Use of samples as controls, in developing new tests and for training or audit is OK under normal circumstances

23. What we do need to keep in mind • Storage of tissues for research- must be sure that the appropriate ethical committee clearances and informed consent have been obtained • Holding of material with a view to non-consensual analysis of DNA is an offence under the act