Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡

J C Harper; K Aittomäki; P Borry; M C Cornel; G de Wert; W Dondorp; J Geraedts; L Gianaroli; K Ketterson; I Liebaers; K Lundin; H Mertes; M Morris; G Pennings; K Sermon; C Spits; S Soini; A P A van Montfoort; A Veiga; J R Vermeesch; S Viville; M Macek Jr; European Society of Human Reproduction and Embryology and European Society of Human Genetics

doi:10.1093/hropen/hox015

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications^†‡

Hum Reprod Open. 2017 Dec 4;2017(3):hox015. doi: 10.1093/hropen/hox015. eCollection 2017.

Authors

J C Harper¹, K Aittomäki², P Borry³, M C Cornel⁴, G de Wert⁵, W Dondorp⁵, J Geraedts⁶, L Gianaroli⁷, K Ketterson⁸, I Liebaers^{9

10}, K Lundin¹¹, H Mertes¹², M Morris¹³, G Pennings¹², K Sermon¹⁰, C Spits¹⁰, S Soini¹⁴, A P A van Montfoort¹⁵, A Veiga^{16

17}, J R Vermeesch¹⁸, S Viville^{19

20}, M Macek Jr²¹; European Society of Human Reproduction and Embryology and European Society of Human Genetics

Affiliations

¹ Institute for Women's Health, University College London, 86-96 Chenies Mews, London WC1E 6HX, UK.
² Laboratory of Genetics, Helsinki University Hospital, PO Box 720, FI-00029, Helsinki, Finland.
³ Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law, KU Leuven, Kapucijnenvoer 35 - Box 7001. B-3000, Leuven Belgium.
⁴ Department of Clinical Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.
⁵ Department of Health, Ethics and Society, Research Schools CAPHRI and GROW, Maastricht University, De Byeplein 1, 6229 HA Maastricht, The Netherlands.
⁶ Department Genetics and Cell Biology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, P.O. Box 616, 6200 MD Maastricht, The Netherlands.
⁷ S.I.S.Me.R. Reproductive Medicine Unit, Via Mazzini 12, 40138 Bologna, Italy.
⁸ Althea Science, Inc., 3 Regent St #301, Livingston, NJ 07039, USA.
⁹ Centre for Medical Genetics, UZ Brussel, Laarbeeklaan 101, B-1090 Brussels, Belgium.
¹⁰ Research Group Reproduction and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090, Brussels, Belgium.
¹¹ Reproductive Medicine, Sahlgrenska University Hospital, Blå Stråket 6, 413 45, Göteborg, Sweden.
¹² Bioethics Institute Ghent, Department of Philosophy and Moral Science, Ghent University, Belgium.
¹³ Synlab Genetics, chemin d'Entre-Bois 21, CH-1018, Lausanne, Switzerland.
¹⁴ Helsinki Biobank, Helsinki University Central Hospital, Haartmaninkatu 3, PO Box 400, 00029 HUS, Helsinki, Finland.
¹⁵ IVF laboratory, Department of Obstetrics and Gynaecology, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands.
¹⁶ Barcelona Stem Cell Bank, Centre of Regenerative Medicine in Barcelona, Hospital Duran i Reynals, Gran Via de l' Hospitalet 199, 08908, Hospitalet de Llobregat, Barcelona, Spain.
¹⁷ Reproductive Medicine Service of Dexeus Woman Health, Gran Via Carles III, 71-75 - 08028 Barcelona, Spain.
¹⁸ Department of Human Genetics, KU Leuven, O&N I Herestraat 49 - Box 602, B-3000 Leuven, Belgium.
¹⁹ Institute of Parasitology and Pathology, University of Strasbourg, 3 rue Koberlé, 67000 Strasbourg, France.
²⁰ Laboratory of Genetic Diagnostics, UF3472-Genetics of Infertility, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg cedex, France.
²¹ Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and Motol University Hospital, V Úvalu 84, Prague CZ-15006, Czech Republic.

Abstract

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively-parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

Keywords: assisted reproductive technology; epigenetics; expanded carrier screening; female infertility; gamete donor anonymity; germline genome editing; male infertility; mitochondrial replacement therapy; non-invasive prenatal testing; preimplantation genetic testing.