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Direct-to-Consumer Genetic Testing: Outputs from the EASAC-FEAM Working Group Martina Cornel VU University Medical Center, Amsterdam 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 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 Follow-up to Report • Discussion with DG Sanco on revision of Diagnostics Directive • Lay summary prepared for use, with Report, by Academies at national level • Communication to the scientific community – Lancet editorial, European J Human Genetics article • European Parliament discussion event at end 2012 • Discussion with other IAP regional academy networks on global implications