1. VUmc Basispresentatie
Direct to consumer genetic testing: Stand van de wetenschap en te verwachten aanbod 20 juni 2017 Forum Biotechnologie & ZONMW Den Haag
Prof.dr. 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.

8. VUmc Basispresentatie
Overnames waarbij gegevens klanten meegingen

10. 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…

11. 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

12. 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

13. 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

14. 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

15. More generally: Developing broad principles for management of DTC GT
VUmc Basispresentatie
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
=Checklist die VWS nu nodig heeft?

16. VUmc Basispresentatie
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
Wat laatste punt betreft: intussen weinig translationeel onderzoek (na NGI) i.t.t genomes UK en genomes USA

18. The EU's effort to overhaul the regulation of medical devices and in vitro diagnostics (IVDs) has cleared its final legislative hurdle …
The new regulations, which include stricter premarket review of high-risk devices, strengthened designation criteria for notified bodies, improved traceability, as well as a risk-based classification system for IVDs, are the result of a multi-year negotiation process between the European Commission, Parliament and Council to address gaps in oversight ….
...Following publication, the new regulations for medical devices will enter into force in three years, and in five years for IVDs.
=2022

19. ? Proactieve taak overheid: goed regelen
Gezondheidsraad – Screening tussen hype en hoop 2008

20. 23andme FDA approved 2017 Op internet 23andme onduidelijk welke genen
As a result, the FDA is now allowing 23andMe to market tests that assess genetic risks for the following 10 diseases or conditions:
Parkinson's disease, a nervous system disorder impacting movement
Late-onset Alzheimer's disease, a progressive brain disorder that destroys memory and thinking skills
Celiac disease, a disorder resulting in the inability to digest gluten
Alpha-1 antitrypsin deficiency, a disorder that raises the risk of lung and liver disease
Early-onset primary dystonia, a movement disorder involving involuntary muscle contractions and other uncontrolled movements
Factor XI deficiency, a blood clotting disorder
Gaucher disease type 1, an organ and tissue disorder
Glucose-6-phosphate dehydrogenase deficiency, also known as G6PD, a red blood cell condition
Hereditary hemochromatosis, an iron overload disorder
Hereditary thrombophilia, a blood clot disorder

21. Andere producten Ancestry (99€) DNA-Fit met leefstijladvies
niet duidelijk welke genen
meer bewegen is beter
Infidelity DNA Test (299€)
For infidelity testing, we can test a vast range of samples including semen stains, blood stains, soiled undergarments, cigarette ends and toothbrushes.
VUmc/AMC dragerschapstest voor 50 aandoeningen

22. CF+HbP+Joods+Volendam+…

23. De toekomst?
Meer “hoog risico” genen voor BC, CRC in KLG (5-10% van alle kanker), ook cardiogenetica
WGS leidt tot meer oorzaken MR (o.a. nieuwe mutaties)
Meer risicostratificatie screeningsprogramma’s mogelijk, ook rekening houdend met “matig risico” genen zoals CHEK2
Maar wie pakt dat op?
In KLG weinig groei, dus capaciteitsproblemen
Mainstreaming? Genetische testen aanvragen door oncoloog, cardioloog, …
DTC?