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