Gerry Evers-Kiebooms

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

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.

Non‐disclosure preimplantation genetic diagnosis for Huntington's disease: practical and ethical dilemmas

Prenatal diagnosis of Huntingtons Disease (HD) is controversial. Selective abortion is considered unacceptable by some, since, being a late‐onset disorder, any child born carrying the HD mutation might still expect many years of disease‐free life. The test result itself has implications for the parents and other members of the family who may have decided not to be tested but who know that they may be at risk because a family member is affected. For this reason some potential carriers do not want to know their carrier status and may prefer prenatal exclusion testing. However, since half the fetuses carrying the affected grandparental allele may be normal, aborting these fetuses is also controversial.

Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections

BACKGROUND Huntingtons disease (HD) is an autosomal dominant neurodegenerative late onset disorder. This review of reproductive options aims to increase reproductive confidence and to prevent suffering in relation to family planning around HD and possibly other late onset neurodegenerative disorders. METHODS Selected relevant literature and own views and experiences as clinical geneticists, psychologists and ethicists have been used. RESULTS Possible options, with emphasis on prenatal diagnosis (PD) and preimplantation genetic diagnosis (PGD) to prevent the transmission of HD to the next generation, are described and discussed. They are formally presented in a decision tree, taking into account the presence or absence of a fully penetrant allele (FPA), a reduced penetrant allele (RPA) or an intermediate allele (IA). A table compares invasive and non-invasive PD and PGD. From a psychological perspective, the complex process of counselling and decision-making regarding reproductive options is discussed. Special attention is paid to the decision to avoid the transmission of the mutation and to the confrontation and coping of a mutation-free child growing up with a parent developing disease symptoms. From an ethical point of view, reflections on both PD and PGD are brought forward taking into account the difference between FPA, RPA and IA, direct testing or exclusion testing and taking into account the welfare of the child in the context of medically assisted reproduction. CONCLUSION Recommendations and suggestions for good clinical practice in the reproductive care for HD families are formulated.

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

Acknowledgement to the Reviewers

Stephen J.J. Clarke, St. Leonards, Australia Robert L. Coleman, Houston, USA Pier Franco Conte, Modena, Italy Jay Cooper, Brooklyn, USA Daniela Cornelio, Porto Alegre, Brazil Renzo Corvo, Genoa, Italy Long H. Dang, Gainesville, USA Aimery de Gramont, Paris, France Marc Denis, Nantes, France Francesco Di Costanzo, Florence, Italy Phillip J. DiSaia, Orange, USA Tomislav Dragovich, Gilbert, USA Elisabeth L. Dupont, Lakeland, USA Grace K. Dy, Buffalo, USA Florian Eckel, Munich, Germany Patricia Eifel, Houston, USA Bassel F. El-Rayes, Atlanta, USA Matti Eskelinen, Kuopio, Finland Marwan G. Fakih, Ann Arbor, USA Nicola Fazio, Milan, Italy Kate Fife, Cambridge, UK Eric Francois, Nice, France Martin Fruh, St. Gallen, Switzerland Masashi Fujii, Tokyo, Japan Sirish M. Gadgeel, Detroit, USA Vassilis Georgoulias, Heraklion, Greece Domenico Germano, Benevento, Italy Julia Glade Bender, New York, USA Martin Glas, Bonn, Germany Boon-Cher Goh, Singapore, Singapore Erdem Goker, Bornova, Turkey Maria Gonzalez Cao, Barcelona, Spain Christian Gratzke, Munich, Germany Juan-Jose Grau, Barcelona, Spain Tim F. Greten, Bethesda, USA Francesco Grossi, Genova, Italy Victor Gruenwald, Hannover, Germany Pascal Hammel, Clichy, France Toshiyuki Harada, Sapporo, Japan Motohiro Hirao, Osaka, Japan Wolfgang Hohenforst-Schmidt, Coburg, Germany Michael Holick, Boston, USA Masaru Horio, Osaka, Japan Dieter Horsch, Bad Berka, Germany Ghassan K. Abou-Alfa, New York, USA Ana Lucia Abujamra, Porto Alegre, Brazil Banke Agarwal, Saint Louis, USA Jaffer A. Ajani, Houston, USA Masashi Akiyama, Nagoya, Japan Frederic Amant, Leuven, Belgium Peter M. Anderson, Houston, USA Rose Anorlu, Lagos, Nigeria Makoto Arai, Chiba City, Japan Yasuaki Arai, Tokyo, Japan S.A. Arnold, Nashville, USA Ofer Arnon, Beer-Sheva, Israel David August, New Brunswick, USA Hideo Baba, Kumamoto, Japan Alexander Bachmann, Basel, Switzerland Joseph M. Backer, Brookfield, USA Aristotle Bamias, Vrilissia, Athens, Greece Thomas I. Barron, Dublin, Ireland Jean-Pierre Bellocq, Strasbourg, France Jaafar Bennouna, Nantes, France Al B. Benson, Chicago, USA Thierry Berghmans, Brussels, Belgium Jordan D. Berlin, Nashville, USA Stefan Bielack, Stuttgart, Germany Julie Bienertova-Vasku, Brno, Czech Republic Stefan Biesterfeld, Dusseldorf, Germany Narikazu Boku, Sunto-gun, Japan Olivier Braissant, Basel, Switzerland Nguyen Binh Bui, Bordeaux, France Ronald M. Bukowski, Pepper Pike, USA Abdullah Buyukcelik, Kayseri, Turkey Alfredo Carrato, Madrid, Spain Marc Carrier, Ottawa, Canada James Cassidy, Nutley, USA Darko Cerne, Ljubljana, Slovenia Stephen Lam Chan, Hong Kong, China Judy-Anne W. Chapman, Kitchener, Canada Kazuaki Chayama, Hiroshima, Japan Ming-Huang Chen, Taipei, Taiwan Ann-Lii Cheng, Taipei, Taiwan Ya-Wen Cheng, Taichung, Taiwan Marco Chinol, Milan, Italy Julia C. Chisholm, Sutton, UK