1. ¹Department of Medical Genetics, University of Turku, Turku, Finland
2. ²Faculty of Law, Medical and Biolaw, University of Helsinki, Helsinki, Finland
3. ³European Commission's Joint Research Centre (Institute of Prospective Technological Studies), Seville, Spain
4. ⁴Archbishop Hospital and Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
5. ⁵INSERM SC11, Paris, France
6. ⁶SGMG/SSGM, Bern, Switzerland
7. ⁷VU University Medical Centre, Amsterdam, The Netherlands
8. ⁸Laboratorio di Genetica Medica, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
9. ⁹Psychosocial Genetics Unit, Department of Human Genetics, University of Leuven, Leuven, Belgium
10. ¹⁰Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
11. ¹¹SISMeR, Centre for Reproductive Medicine, Bologna, Italy
12. ¹²UCL Centre for PGD, London, UK
13. ¹³Department of Medical Genetics, University of Pécs, Pécs, Hungary
14. ¹⁴SU/Sahlgrenska, Göteborg, Sweden
15. ¹⁵Centre for Medical Genetics, Dutch-speaking Brussels Free University (Vrije Universiteit Brussel, VUB), Brussels, Belgium
16. ¹⁶Department of Human Genetics, University of Porto, Porto, Portugal
17. ¹⁷Department of Audiology, H:S Bispebjerg Hospital and Wilhem Johannsen Centre of Functional Genomics, University of Copenhagen, Copenhagen, Denmark
18. ¹⁸Department of Medical Genetics, University of Turku, Turku, Finland

Correspondence: Professor H Kääriäinen, Department of Medical Genetics, University of Turku, Kiinamyllykatu 10, FIN-20520 Turku, Finland. E-mail: hkaaria@utu.fi

^†Disclaimer: The views expressed in this study do not necessarily reflect those of the European Commission (EC).

Abstract

The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics, health care, researchers and the society in general. Genetic causes have a considerable involvement in infertility. Genetic conditions may also be transmitted to the offspring and hence create transgenerational infertility or other serious health problems. Several studies also suggest a slightly elevated risk of birth defects in children born following ART. Preimplantation genetic diagnosis (PGD) has become widely practiced throughout the world for various medical indications, but its limits are being debated. The attitudes towards ART and PGD vary substantially within Europe. The purpose of the present paper was to outline a framework for development of guidelines to be issued jointly by European Society of Human Genetics and European Society of Human Reproduction and Embryology for the interface between genetics and ART. Technical, social, ethical and legal issues of ART and genetics will be reviewed.