Direct-to-Consumer Genetic Testing: Based on the EASAC-FEAM Working Group Martina Cornel VU University Medical Center, Amsterdam, The Netherlands With thanks to prof. Béla Melegh, Pécs, Hungary

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.

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

”Racial purity” genetic test abuse

Parliamentary questions 3 July 2012 E /2012 Question for written answer to the Commission Rule 117 Alda Sousa, Portuguese member of the European Parliament

Subject: Genetic ancestry testing for racist propaganda purposes 1. Will it draw up legislation and rules on genetic tests so as to prevent the company concerned in this case and other public or private companies from continuing to advertise and carry out ancestry and ‘racial purity’ tests?

Subject: Genetic ancestry testing for racist propaganda purposes (2) Subject: Genetic tests — regulation, accreditation, and advertising 1. What measures will the Commission take to regulate the quality assurance and accreditation of the laboratories which carry out human genetic tests of the type concerned here and other types, especially in cases where tests are sold freely to consumers on a cross-border basis (on the Internet, for instance)? 2. What measures will it take as regards misleading advertising and improper uses of scientifically worthless genetic tests, health-related or otherwise? 3. What measures will it take to regulate advertising and the free and direct sale of the above mentioned and other genetic tests, especially health-related and ‘personal identity’ tests (paternity/maternity and ancestry), which frequently involve children or third parties who have not given their consent?

Answer given by Mrs Reding on behalf of the Commission (10 September 2012) The European Commission has repeatedly rejected and condemned all manifestations of xenophobia and racism and uses all the instruments at its disposal, in line with the Treaties, to fight against these phenomena as they are incompatible with the values and principles the EU is founded on. Article 21 of the Charter of Fundamental Rights prohibits discrimination on the basis of ethnic origin as well as genetic features and in line with its Article 8 everyone has the right to the protection of his/her personal data, including genetic data. According with its Article 51(1) the Charter applies to the Member states only when they are implementing Union law and does not extend the EU competencies as defined in the Treaties. Council Directive 2000/43/EC (1) prohibits discrimination based on race or ethnic origin in a number of fields, including access to employment and occupation. Member States are obliged to give full effect to the provisions of the directive and put in place procedures and remedies for persons who claim to be victims of such discrimination. Hungary has transposed that directive.

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? In Vitro Diagnostic Medical Devices The EU has published a new IVD Regulation which will replace the current Directive 98/79/EC on In-Vitro Diagnostic Medical Devices (IVDD) from around 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

EU added value? Responsibilities of member states? Independent review of evidence Information, accessible to public (Not) allowing products to the market?