1. EMGO Institute for Health and Care Research Quality of Care Martina Cornel Professor of Community Genetics & Public Health Genomics Public Health Gen-ethics in familial cancer in the personal genomics era Community Genetics, Dept Clinical Genetics Hereditary and Familial Cancer in the Personal Genomics Era Barcelona 15 March 2013

2. 2000: genome sequence published Without a doubt, this is the most important, most wondrous map ever produced by humankind. With this profound new knowledge, humankind is on the verge of gaining immense, new power to heal. Genome science will have a real impact on all our lives -- and even more, on the lives of our children. It will revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases. Human genome project 2000

3. Genetics: “bench” or “bedside”? Science or health care? Left: Watson and Crick describe the structure of DNA Above: Breuning explains the consequences

4. Agenda Introduction: hopes or hypes? So far modest consequences for health care of the sequencing of the human genome. Clinical genetics & traditional ethical framework Highly predictive testing with clinical utility: Public Health ethical framework? DTC should not be encouraged Proposed roadmap –multidisciplinary (pathologists, family medicine) –ICPC codes

5. ASHG definition genetic counselling “Genetic counselling is a communication process that deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to: (1) comprehend the medical facts including the diagnosis, probable course of the disorder, and the available management, (2) appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives, (3) understand the alternatives for dealing with the risk of recurrence, (4) choose a course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards and act in accordance with that decision, and (5) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.”

6. Moral framework for genetic testing Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes (Council of Europe 2008). The primacy of the interests and welfare of the individual human being over the sole interest of society or science, non-discrimination and appropriate test quality are important criteria mentioned in this convention, as are appropriate information, counselling and consent.

7. Ethical principles in genetic health care Non-directiveness –(vs. coercive aspects of eugenics) Autonomy or self-determination of client Goal: informed decision making –(vs. preventing birth defects or genetic disorders) –Goal <> potential consequence

8. Clinical genetics: for whom? Clients seeking information Consequences for family: passed on by proband Balance right-to-know vs. right-not-to-know … guidelines state that clinical geneticists should request index patients to inform their at-risk relatives… Stol 2010 Whose DNA is it anyway? Sarkar 2010 Is there a duty to remain in ignorance? Brassington 2011

9. Agenda Introduction: hopes or hypes? Clinical genetics & traditional ethical framework Highly predictive testing with clinical utility: Public Health ethical framework? DTC should not be encouraged Proposed roadmap –multidisciplinary (pathologists, family medicine) –ICPC codes

10. Clinical geneticsPublic health Individualism & autonomy => insurance payment Collectivism & paternalism => government funding Goal: Empower counselees Outcome: informed choice, personal control Goal: Promote health and prevent disease Outcome: uptake, compliance, decrease number affected, economic benefits Perspective of clinical genetics vs. Public health

11. Public health activities Seat belts Health promotion Tabacco tax Etc etc

12. Ethical principles Paternalism Directiveness (informed choice)

13. High vs. lower predictive value Janssens 2006

14. Cancer & genetics Familial cancer FAP, HNPCC BRCA1 & 2

15. The changing landscape Some genetic tests with clinical utility need translation from bench to bedside (implementation; monogenic subtypes) –Right to know>> right not to know –Public health ethics? Inform, persuade, be directive Not all tests that are available today have proven clinical utility (hype) Education, discussion, debate, recommendations to guide professional policy

16. Agenda Introduction: hopes or hypes? Clinical genetics & traditional ethical framework Highly predictive testing with clinical utility: Public Health ethical framework? DTC should not be encouraged Proposed roadmap –multidisciplinary (pathologists, family medicine) –ICPC codes

17. EASAC-FEAM: Main messages MAIN MESSAGES All kinds of genetic testing require an appropriate and relevant level of professional advice On the whole, DTC GT has little clinical value at present and, on occasion, has potential to be harmful We would not wish to encourage EU citizens to use DTC GT at the present time

18. More generally: Developing broad principles for management of DTC GT Addressing concerns for completeness of information supplied before consent; data handling; access to advice and counselling Demonstrating scientifically valid claim between genetic marker and disease Establishing quality control in laboratory analysis and interpretation of results Enforcing advertising standards Proper additional consent seeking for research Implications for established health services

19. Agenda Introduction: hopes or hypes? Clinical genetics & traditional ethical framework Highly predictive testing with clinical utility: Public Health ethical framework? DTC should not be encouraged Proposed roadmap –multidisciplinary (pathologists, family medicine) –ICPC codes

20. Proposed roadmap (Houwink 2013)

21. Improve genomic literacy by training & education Improve possibility to register family history (ICPC)

22. 3. (Access to) up-to-date and unambiguous guidelines. 4. (Apps to) self-register family history such as familyhealthware.com 5. Proactive genetic services integrated in GP service facilitated by ICT multidisciplinary; from tissue sample in pathology to clinical geneticist & patient

23. To conclude In familial cancer highly predictive tests are available as well as interventions that save lives From “right-not-to-know” to “duty-to-inform” We have to build genetic health care services to identify oncogenetic conditions, direct patients and their healthy family members to clinical genetics to Live longer and healthier

24. THANK YOU FOR YOUR ATTENTION