title: Responsible implementation of expanded carrier screening.
abstract: This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.
authors.affiliation: Department of Clinical Genetics, Section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Lidewij
authors.initials: L
authors.lastname: Henneman
authors.affiliation: Centre for Biomedical Ethics and Law, University of Leuven, Leuven, Belgium.
authors.forename: Pascal
authors.initials: P
authors.lastname: Borry
authors.affiliation: Centre for Biomedical Ethics and Law, University of Leuven, Leuven, Belgium.|Centre for Medical Genetics Ghent, University Hospital Ghent, Ghent, Belgium.
authors.forename: Davit
authors.initials: D
authors.lastname: Chokoshvili
authors.affiliation: Department of Clinical Genetics, Section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Martina C
authors.initials: MC
authors.lastname: Cornel
authors.affiliation: Department of Clinical Genetics, Section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Carla G
authors.initials: CG
authors.lastname: van El
authors.affiliation: Medical Genetics Unit, Ospedali Galliera, Genova, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Forzano
authors.affiliation: PHG Foundation, Cambridge, UK.
authors.forename: Alison
authors.initials: A
authors.lastname: Hall
authors.affiliation: Centre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
authors.forename: Heidi C
authors.initials: HC
authors.lastname: Howard
authors.affiliation: Centre for Medical Genetics Ghent, University Hospital Ghent, Ghent, Belgium.
authors.forename: Sandra
authors.initials: S
authors.lastname: Janssens
authors.affiliation: Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Phillis
authors.initials: P
authors.lastname: Lakeman
authors.affiliation: Department of Clinical Ethics and Law (CELS), University of Southampton and Wessex Clinical Genetic Service, Southampton, UK.
authors.forename: Anneke
authors.initials: A
authors.lastname: Lucassen
authors.affiliation: Murdoch Children's Research Institute and Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
authors.forename: Sylvia A
authors.initials: SA
authors.lastname: Metcalfe
authors.affiliation: Clinical Institute of Medical Genetics, Ljubljana University Medical Centre, Ljubljana, Slovenia.
authors.forename: Lovro
authors.initials: L
authors.lastname: Vidmar
authors.affiliation: Department of Health, Ethics & Society, Research Schools CAPHRI and GROW, Maastricht University, Maastricht, The Netherlands.
authors.forename: Guido
authors.initials: G
authors.lastname: de Wert
authors.affiliation: Department of Health, Ethics & Society, Research Schools CAPHRI and GROW, Maastricht University, Maastricht, The Netherlands.
authors.forename: Wybo J
authors.initials: WJ
authors.lastname: Dondorp
authors.affiliation: Clinical Institute of Medical Genetics, Ljubljana University Medical Centre, Ljubljana, Slovenia.
authors.forename: Borut
authors.initials: B
authors.lastname: Peterlin
mesh_terms: D003657:Decision Making; D005060:Europe; D005817:Genetic Counseling / Q000941:ethics / Q000523:psychology*; D005820:Genetic Testing / Q000941:ethics / Q000592:standards*; D005826:Genetics, Medical / Q000941:ethics / Q000458:organization & administration; D006579:Heterozygote; D006801:Humans; D017410:Practice Guidelines as Topic; D012955:Societies, Medical