VUmc Basispresentatie Direct to consumer genetic testing: Stand van de wetenschap en te verwachten aanbod 20 juni 2017 Forum Biotechnologie & Genetica @ ZONMW Den Haag Prof.dr. Martina Cornel, VU University Medical Center, Amsterdam www.vumc.com/researchcommunitygenetics

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

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.

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.

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

VUmc Basispresentatie Overnames waarbij gegevens klanten meegingen

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…

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

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

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

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

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?

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. 100.000 genomes UK en 1.000.000 genomes USA

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

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

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 http://www.npr.org/sections/health-shots/2017/04/07/522897473/fda-approves-marketing-of-consumer-genetic-tests-for-some-conditions

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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?