1. Ethics in Clinical Genetics and Genomics Key Knowledge Year 4 Medical Ethics and Law Thread Course, 2015-16 The Ethox Centre, University of Oxford

2. From Genetics to Genomics

3. http://www.dailyfinance.com/2012/01/11/the-promise-and-peril-of-the-mass-market-genome/

4. Genetics “the study of heredity” Examination of specific genes and their inheritance Prior selection of the gene for study Rare diseases Related clinical specialty

5. Genetics “the study of heredity” Examination of specific genes and their inheritance Prior selection of the gene for study Rare diseases Related clinical specialty Genomics “the study of genes their functions, and related techniques” Examination of entire genetic material Agnostic approach Large amounts of data Large samples sizes Complex disease Integrated in medicine

6. Human Variation Kaiser, J. Science 23 November 2012: Vol. 338 no. 6110 pp. 1016-1017 CREDIT: ADAPTED FROM S. TSUJI ET AL., HUM. MOL. GENET. 19 (15 APRIL 2010)

7. Genomic Information

8. The importance of genomics in healthcare http://www.geneticseducation.nhs.uk/genomics-in-health

10. Large-scale genome sequencing in healthcare Genomics England aims to create a lasting legacy for patients, the NHS and the UK economy, through the sequencing of 100,000 genomes by 2017. It aims to: o Create an ethical transparent programme based on consent o Bring benefit to patients and create a genomics service for the NHS o Enable new scientific discovery and medical insights o Nurture the development of the UK genomics industry

11. Importance of ethics in healthcare

12. The Genethics Club

13. Founded in 2001 as a form of practical ethics support for genetics professionals Aims to promote high ethical standards in the care of patients and families through the discussion of difficult cases and the sharing of good practice between the 23 regional genetics services The Genethics Club meets three times each year and has met 40 times The Genethics Club

14. Average attendance at the Genethics Club is about 30 (ranges from 25 – 65) More than 900 people have attended Who are they? 70% genetic counsellors 20% clinical geneticists and laboratory staff 10% others e.g. ethics, social science, patient groups 500 + cases have been formally presented Increasing focus on issues presented by genomics Who attends the Genethics Club?

15. What kinds of problems are discussed?

16. But cases are complex

18. Genetics in the Year 4 course Sharing genetic information in families – case study in ‘confidentiality session’ Consent and care of children – ‘consent session’ Legal aspects – see consent and confidentiality handouts Today: – Incidental findings/consent – Reproductive ethics

19. Feedback of Findings

20. Research vs clinical care Variants of uncertain significance Incidental findings

21. Research vs Clinical Care Research and clinical care often understood as separate activities. These separate activities are thought to derive from different motivations. Clinical care is motivated by the individual patient need and risks are justified by anticipated benefits for the patient. Research are hypothesis driven (rather than needs driven) and aims to identify results from a population that can be applied to individuals.

22. Research vs Clinical Care Within the clinical setting obligations and responsibilities of the health professional place the welfare and best interests of the patient at the heart of the consultation. Within the research setting consent and the protection of the research participant predominate. The boundary between clinical and research activities is becoming increasingly blurred within genetics and genomic medicine.

23. Variants of Uncertain Significance Findings in genomic medicine may be scientifically significant, or not. ‘Scientifically significant’ means that there is robust statistical evidence of a relationship between the genomic characteristic (usually a genetic variant) and a particular phenotype. If there is insufficient evidence to support a genotype- phenotype relationship then the finding is often referred to as a variant of uncertain significance (VUS). Labelling a particular variant as a VUS does not mean that the variant is not associated with a particular phenotype, but rather that no significant statistical relationship has been established between the variant and the phenotype.

24. Incidental Findings Pertinent findings = findings that have been generated or sought with the purpose of answering a particular clinical or research question either by genotyping specific areas of the genome or by specifically interrogating those areas if the whole genome has been sequenced. Incidental findings = additional findings concerning a patient or research participant that may, or may not, have potential health implications and clinical significance, that are discovered during the course of a clinical or research investigation, but are beyond the aims of the original test or investigation.

25. Prenatal Screening and Diagnosis

27. Non-Invasive Prenatal Testing

28. NIPT is widely available in the private sector Individual clinicians and private clinics are offering NIPT provided by a number of different laboratories (UK and overseas) Costs for NIPT range from £400 to £900 Paid out of pocket at private clinic in UK Follow on tests and procedures are carried out within NHS

29. January 2015

30. Termination of Pregnancy and UK Law Under UK law, a termination can usually only be carried out during the first 24 weeks of pregnancy as long as certain criteria are met. The Abortion Act 1967 covers England, Scotland and Wales but not Northern Ireland, and states: – abortions must be carried out in a hospital or a specialist licensed clinic – two doctors must agree that an abortion would cause less damage to a woman's physical or mental health than continuing with the pregnancy

31. Termination of Pregnancy and UK Law There are also rarer situations when the law states a termination may be carried out after 24 weeks – if it's necessary to save the woman's life – to prevent grave permanent injury to the physical or mental health of the pregnant woman – if there is substantial risk that the child would be born with serious physical or mental disabilities Generally, an termination should be carried out as early in the pregnancy as possible.