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

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

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.

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…

High vs. lower predictive value Janssens 2006

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 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

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

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

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)

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