1. DEFINING REGULATIONS AND PERFORMANCE EVALUATION CRITERIA FOR GENETIC TESTS
Prof.dr. Martina Cornel
Member of EASAC-FEAM Working Group Direct-to-Consumer Genetic Testing
Department of Clinical Genetics, EMGO Institute for Health & Care Research
VU University Medical Center, Amsterdam, NL

2. 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

3. 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

4. 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.

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

11. Dynamic field DTC genetic testing companies changing fast?
Clinical genetics used to focus on highly predictive but rare conditions
Few trained medical specialists, more genetics in medicine…

12. High vs. lower predictive value
Janssens 2006

13. 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

14. 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

15. 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

16. 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

17. 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

18. 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

19. 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

21. EU added value? Independent review of evidence
As in EUnetHTA and EMA
Information, accessible to public
As in Council of Europe information on genetic testing
As in Clinical Utility Gene Cards (EUROGENTEST)
As in Genetic Test Registry USA
(Not) allowing products to the market?
As EMA (for medicines) and FDA (for medicines and tests)

22. Private partners Industry code of practice
Clinical utility as guiding principle
Attunement betweens stakeholders needed: Public private partnerships, collaborating with patients, professional, payers, policymakers