1. EMGO Institute for Health and Care Research Quality of Care Martina Cornel, MD, PhD A public health perspective on direct to consumer genetic testing Community Genetics, Dept Clinical Genetics Ljubljana 08.04.2011 3rd Slovene Medical Genetics Symposium

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

4. Prevention advice in 2020?

5. 10 years after …. Results in health care modest Genetic variants (SNPs) explain only minority of interindividual risk differences The human molecular system is more complex than anticipated.

6. Finding the missing heritability.. Manolio, Nature 2009

7. Genomics has not revolutionized medicine Promises too optimistic –GWAS, SNPs predict less than expected Lack of translational studies Complexity of human biological system

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

9. Translation needed Libraries cannot be built fast enough to keep up with modern scientific output. But moving this knowledge off the shelves and into practice.. requires translation. Lenfant NEJM 2005;349:868

10. Fases in translational research The continuum of translation research in human genetics: types of research Khoury M et al. Genet Med. 2007;9:665-74.

11. Framework for translational research

15. If SNPs don’t predict very good, what does? www.youtube.com/watch?v=52RJWyjogY0&feature=related www.youtube.com/watch?v=DU_i0ZzIV5U&feature=related

16. Prediction Monogenic conditions Monogenic subtypes of complex disorders Multifactorial disorders

17. Contributing factors in causal models Janssens 2008

18. ESHG recommendations: Utility of test shall be essential criterion Laboratories … comply with quality standards Information.. purpose & appropriateness Counseling, psychosocial evaluation, follow up Privacy and confidentiality.. secured Claims.. transparent; advertisement unbiased Ethics: Respect international treaties

21. Screening: Definition US Commission on Chronic Illness 1951: The presumptive identification of unrecognized disease or defect by the application of tests, examinations or other procedures which can be applied rapidly. Screening tests sort out apparently well persons who probably have a disease from those who probably do not. A screening test is not intended to be diagnostic. Persons with positive or suspicious findings must be referred to their physicians for diagnosis and necessary treatment.

22. Sir Muir Gray (Nat Scr Comm UK) All screening programmes do harm. Some do good as well and, of these, some do more good than harm at reasonable cost.

23. New technological possibilities –Attunement between parties Achterbergh et al. Health Policy 2007; 83: 277-286.

24. The challenge of balancing pros and cons Paradox: Few genetic tests with proven clinical utility tend not (yet) to be implemented in health care DTC offers of tests without clinical utility, or, with clinical utility but without counseling, quality control, etc

25. Long QT syndrome

26. How to recognize monogenic subtype? Different pattern –No hypertension, obesity, smoking, age>60 –NB one-size-fits-all vs. personalized medicine Lower age Multiple locations cancer Multiple members of a family NB start asking! DNA test comes in later.

27. Family history and DNA in public health? Extend programs aiming to diagnose monogenic subtypes (cascadescreening FH)? HNPCC FAP BRCA HCM LQTS ARVD MODY hemochromatosis

28. The role of the government (Health Council 2008) Duty of care: ensure worthwhile screening –National population screening programme: provide facility itself –Available in basic healthcare package –Reproductive screening: special position: provide worthwhile options and guarantee both quality and informed decision making Duty of protection against unsound screening –Guard citizens against health damage from risky or unsound forms of screening

29. Protection – Self regulation? Quality control Accreditation/certification Standards Recognition of competence www.epbs.net/brussels/

30. An active approach is needed (Health Council 2008) Responsible screening should be available and accessible –Strong proactive engagement government Protect citizens against risk of unsound screening –Quality mark: information, education, exposure, trust Positive evaluation->public provision No significant benefits, but no major drawbacks either-> leave to market forces Negative evaluation->independent information; public exposure

31. DTC sustainable? Adequate information Quality of tests guaranteed Medical supervision embedded in regular health care Privacy and confidentiallity guaranteed Clinical utility as central guiding principle