1. EMGO Institute for Health and Care Research Quality of Care Martina Cornel Professor of Community Genetics & Public Health Genomics Can Public Health Genomics play a role in the context of pregnancy? Community Genetics, Dept Clinical Genetics Leopoldina conference Berlin 9 March 2013

2. Definitions Public Health Public Health Genomics Community Genetics

3. Definitions Public Health in NL –Many definitions (sociale geneeskunde, volksgezondheid, openbare gezondheidszorg,..) –The science and art of preventing disease, prolonging life and promoting health through the organized efforts of society (Acheson 1988) –Collective efforts instead of care for individuals who seek advice –Health care instead of care for sick people

4. Determinants of health (Lalonde 1974) 4 interdependent fields determine individual's health: Biomedical: all aspects of health, physical and mental, developed within the human body as influenced by genetic make-up Environmental: all matters related to health external to the human body, over which the individual has little or no control, including the physical and social environment Lifestyle: the aggregation of personal decisions (i.e. over which the individual has control) that can be said to contribute to, or cause, illness or death; Health care organization: includes medical practice, nursing, hospitals, nursing homes, medical drugs, public health services, paramedic services, dental treatment and other health services

5. Effective translation of genome-based knowledge and technologies, for the benefit of population health ~ translating research into practice and services (help close the gap) (Stewart, p. 2) Public health genomics

6. Community genetics Synonymous to Public Health Genomics??? Community genetics is the art and science of the responsible and realistic application of health and disease-related genetics and genomics knowledge and technologies in human populations and communities to the benefit of individuals therein. Community genetics is multi-, inter- and transdisciplinary and aims to maximize benefits while minimizing the risk of harm, respecting the autonomy of individuals and ensuring equity. Ten Kate et al 2010 J Comm Genet

7. Agenda Public Health responsibilities & pregnancy Reproductive choices Central ethical principle in genetics: autonomy. Informed decision making in autonomous individuals What causes a gap between public health & genetics (esp. for reproductive decision making) The interest of the individual is central

8. Public Health responsibility Protect child health –Screening for Rhesus during pregnancy –Increase intake folic acid –Newborn screening (previous speaker) Inform population of avoidable health risks Quality control (laboratory; information)

9. Genetics: during pregnancy Rhesus negative women / Anti-D: –Routine antenatal anti-D prophylaxis (RAADP) is recommended as a treatment option for all pregnant women who are rhesus D (RhD) negative and who are not known to be sensitised to the RhD antigen. (NICE, UK) –in pregnancy [28–34 weeks] and within 17 h postpartum to prevent isoimmunisation Healthy motherhood: an urgent call to action Thelancet.com DOI:10.1016/S0140-6736(06)69389-6

10. RhD: fetal DNA in maternal blood Design PCR that detects presence of RhD gene in plasma RhD negative woman; –If present, it must be fetal! Cave: not all RhD negative women have complete deletion – present PCR is more sophisticated to distinguish also mutated RhD genes; Male RhD+ Female RhD+ Female RhD-

11. 2011: NIPT for Down screening? BMJ 2011: trisomy 21 PLoS One 2011: also tris 13&18

12. Phases of life & genetic screening Preconceptional Antenatal Neonatal Later in life

13. Folic acid reduces risk of fetal neural tube defects Starting from 4 weeks before conception Intake of folic acid (vit B11) 0,5 mg per day Reduces NTD risk by 50-70% Public Health responsibility: inform women!

14. -Folic acid can avoid >70% of neural tube defects -Who tells mothers-to-be?? -Prenatal screening for Down syndrome and NTD

16. Registration as public health task?

17. Preconception genetic screening Before pregnancy Offer to public To offer possibility to reduce risk of serious disorder in offspring

18. Preconceptional carrier screening : why? Couples do not have symptoms, they don’t know they are carriers Couples have (in each pregnancy) 25% risk of child with serious disorder If N children, risk of 1-0,75 N that at least one of the children has disorder: in case of 3 children 58%. healthy healthy healthy affected carrier carrier

19. Genetic screening for Tay Sachs in USA

20. Genetic screening Tay Sachs in USA Offer from ± 1970 in orthodox Jewish communities, where arranged marriage was usual Prenatal diagnosis and selective abortion were not accepted Screen candidates before marriage, inform “matchmaker”, avoid carrier couples was a practice that suited that culture and was effective in avoiding homozygous infants with Tay Sachs disease.

21. Population screening Tay Sachs Initiative Ashkenazi Jewish population USA Community based program –Before meeting potential partner (Dor Yeshorim) –Walk in clinic (London) –Highest grades secondary school (Australia) Contributing to decrease in number of affected infants with Tay Sachs disease

24. Reproductive options Accept risk Prenatal diagnosis (and selective abortion) Embryoselection after PGD Use of donor gametes Adoption Select other partner Each of these: moral considerations differ

25. Agenda Public Health responsibilities & pregnancy Reproductive choices Central ethical principle in genetics: autonomy. Informed decision making in autonomous individuals What causes a gap between public health & genetics (esp. for reproductive decision making) The interest of the individual is central

26. 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.”

27. Principles 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

28. Agenda Public Health responsibilities & pregnancy Reproductive choices Central ethical principle in genetics: autonomy. Informed decision making in autonomous individuals What causes a gap between public health & genetics (esp. for reproductive decision making) The interest of the individual is central

29. 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.

30. Agenda Public Health responsibilities & pregnancy Reproductive choices Central ethical principle in genetics: autonomy. Informed decision making in autonomous individuals What causes a gap between public health & genetics (esp. for reproductive decision making) The interest of the individual is central

31. 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

32. The term “prevention” Should be avoided in ethically sensitive reproductive choices Public health should rather develop adequate information to all and testing of high quality to allow individuals to make their own informed decisions Van El e.a. 2011 JOCG (Witness seminar NL genetic screening criteria)

33. Agenda Public Health responsibilities & pregnancy Reproductive choices Central ethical principle in genetics: autonomy. Informed decision making in autonomous individuals What causes a gap between public health & genetics (esp. for reproductive decision making) The interest of the individual is central

34. THANK YOU FOR YOUR ATTENTION