1. EMGO Institute for Health and Care Research Quality of Care Martina Cornel, MD, PhD, professor of Community Genetics & Public Health Genomics PPPC activities 2009-2010 Chair PPPC National Societies of Human Genetics June 13th

2. A brief overview (see newsletter) Comment to British HGC: DTC document Develop recommendations of ESHG on DTC (draft circulated to membership & Board; external review; approved 12th June) Contacts with Soc Study Behavioural Phenotypes Publication on Italian sentence appeal court Changing landscape of genetic testing meeting (10th June 2010; co-organized with QC)

3. ESHG Recommendations DTC Summary Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes Increasingly, private companies offer direct-to-consumer (DTC) genetic testing services, including tests for single-gene, highly-penetrant severe disorders or susceptibility testing for genetic variants possibly associated with common complex diseases or to minor conditions and trivial phenotypes. The European Society of Human Genetics (ESHG) has provided a formal policy with regard to DTC advertising and provision of genetic tests providing predictive health information. Monday 13:15 F6 Borry et al; abstract C11.1

4. ESHG Recommendations DTC This Statement underlines: (a) the publicly funded provision of tests for health-related purposes only if of proven clinical validity and utility; (b) the compliance of genetics laboratories with currently accepted standards for internal quality and criteria for qualifications for their directors, technicians and other personnel; (c) the importance for the need of medical indications and individualized medical supervision; (d) the provision of pre-test information and counselling appropriate to the type of test and disease; (e) the availability of psychosocial evaluation and follow-up, whenever appropriate, according to the type of test and disease;

5. ESHG Recommendations DTC (f) respect for privacy and confidentiality of personal data and sensitive genetic information; (g) respect for and protection of minors and other legally incapacitated persons; (h) strive for transparency of claims and fair advertisements of genetic tests; (i) respect for the relevant ethical principles in biomedical research and healthcare; (j) respect for the international treaties and recommendations regarding genetic testing; and (among others the Council of Europe Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes and the OECD Guidelines for Quality Assurance in Molecular Genetic Testing) (k) the need for an appropriate oversight of all the above mentioned aspects of genetic testing.

6. Italian sentence reduced sentence Schizophrenic patient accused of murder; convicted 9y Higher appeal court asks for susceptibility tests Susceptible; reduced sentence PPPC: This was a test without proven clinical utility “Responsible” genes: science vs. law Should we be judged on who we are and what we did or on what me might be? Forzano et al. EJHG 2010

7. Plans for 2010-2011 Whole genome sequencing (together with QC) Mental health; esp. Autism Open for suggestions; esp. proposals to support existing national activities on professional policy

8. Newborn screening: EU Tender Vitozzi/Hoffmann/Loeber/Cornel Inventory of policies in EU countries Develop guidance how to deal with increasing technical possibilities: develop decision matrix Questionnaire to chairs of Nat Hum Genet Soc within 4 weeks: please fill out according to your expertise & discuss in your country who could fill out other parts!