STUDY QUESTION: How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? SUMMARY ANSWER: The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. WHAT IS KNOWN ALREADY: In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and ART and published an extended background paper, recommendations and two Editorials. STUDY DESIGN, SIZE, DURATION: An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. PARTICIPANTS/MATERIALS, SETTING, METHODS: In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. MAIN RESULTS AND THE ROLE OF CHANCE: As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs to substantiate that the technique is both effective and efficient. Whole genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. LIMITATIONS, REASONS FOR CAUTION: The legal landscape regarding assisted reproduction is evolving, but still remains very heterogeneous and often contradictory. The lack of legal harmonization and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe, and beyond. WIDER IMPLICATIONS OF THE FINDINGS: This continually evolving field requires communication between the clinical genetics and IVF teams and patients to ensure that they are fully informed and can make well-considered choices. STUDY FUNDING/COMPETING INTERESTS: Funding was received from ESHRE, ESHG and EuroGentest2 European Union Coordination Action project (FP7 - HEALTH-F4-2010-26146) to support attendance at this meeting.

Center for Medical Genetics Vrije Universiteit Brussel Brussels Belgium

Centre for Human Genetics Catholic University of Leuven Leuven Belgium

Department of Biology and Medical Genetics Charles University 2 Faculty of Medicine and University Hospital Motol Prague Czech Republic

Department of Clinical Genetics EMGO Institute for Health and Care Research VU University Medical Center Amsterdam The Netherlands

Department of Embryology and Genetics Vrije Universiteit Brussel Brussels Belgium

Department of Genetics and Cell Biology Research Institute GROW Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands

Department of Health Ethics and Society Research Institute GROW Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands

Department of Molecular Diagnostics Synlab Lausanne Switzerland

Department of Public Health and Primary Care KU Leuven Leuven Belgium

ICBAS Instituto de Ciências Biomédicas Abel Salazar and IBMC Institute for Molecular and Cell Biology University of Porto Porto Portugal

Institute of Genetics and Molecular and Cellular Biology UMR 1704 Illkirch France

National Institute for Health and Welfare Helsinki Finland

Reproductive Medicine Service Institut Universitari Dexeus Barcelona Spain

Reproductive Medicine Unit Institute for Women's Health University College London London UK

S 1 S Me R Reproductive Medicine Unit Bologna Italy

SAGBAL Hospital 'Dr Shterev' MC 'Reproductive Health' Sofia Bulgaria

School of Biosciences University of Kent Canterbury UK

School of Nursing and Midwifery Faculty of Health Education and Society Plymouth University Plymouth UK

UCL Centre for PG and D Institute for Womens Health University College London London UK Centre for Reproductive and Genetic Health London UK

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