1. Martina Cornel VU University Medical Center, Amsterdam
Direct-to-Consumer Genetic Testing: Outputs from the EASAC-FEAM Working Group
Martina Cornel
VU University Medical Center, Amsterdam

2. Direct-to-Consumer Genetic Testing (DTC GT): Background
Advances in genomics are discovering new genes that cause disease or increase its risk
Genetic testing traditionally confined to specialist medical services focusing on relatively rare inherited diseases
Common, complex disorders are usually the result of variation in many genes acting together with other factors
Increasing availability of genetic tests for complex diseases available via internet – of debatable value

3. 2000: draft of human 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.

4. 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.

5. Vaak wel premature translatie: commerciële aanbiedingen van testen die wetenschappelijk niet goed te onderbouwen zijn.

9. High vs. lower predictive value
Janssens 2006

10. EASAC-FEAM Working Group
Started in 2011, funded by InterAcademy Panel, the first joint project between EASAC and FEAM
Working Group members nominated by Academies, with expertise in clinical genetics, public health and ethics
Objectives – to clarify scientific developments, assess regulatory options, provide information to policy makers and public
Report published July 2012

11. DTC GT is controversial: advantages and disadvantages from the literature
Increased personal choice – but lack of preparation for results or objective information on quality; absence of individualised medical supervision and counselling
Rapid diagnosis – but financial and social costs
More information, may allow earlier intervention – but little use at present, may induce anxiety or false reassurance
Claimed privacy of information – but unclear procedures for data storage and use

12. EASAC-FEAM: 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

13. Especial caution is warranted for DTC GT in specific respects
For those with symptoms or at known increased risk
Monogenic, high penetrance, serious disorders
Prenatal screening, carrier testing in children
Nutrigenomic testing
Pharmacogenetic testing

14. 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

15. Issues for EU strategy – What are the emerging areas for European Commission?
Directive 98/79/EC (In Vitro Diagnostic Medical Devices) – revision to cover all genetic and other test information used to make medical claims; issues for introducing independent review of evidence, which must be accessible and verifiable
Other legislation – implications for reform of other Directives on Medical Devices and scope of Data Protection Regulation
Support for research and innovation – on gene-disease associations

16. Issues for EU strategy – What are emerging areas for public and private sector scientists?
Governance of professional and technical competences
Industry code of practice
Public databases of validated evidence for claims
Professional genetics education
Public engagement and awareness
Advent of Whole Genome Sequencing

17. Follow-up to Report
Discussion with DG Sanco on revision of Diagnostics Directive
Lay summary prepared for use, with Report, by Academies at national level
Communication to the scientific community – Lancet editorial, European J Human Genetics article
European Parliament discussion event at end 2012
Discussion with other IAP regional academy networks on global implications