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Responsible implementation of expanded carrier screening
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2016 (English)In: Eur J Hum Genet, Vol. 24, no 6, p. e1-e12Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2016. Vol. 24, no 6, p. e1-e12
Keywords [en]
Decision Making, Europe, Genetic Counseling/ethics/*psychology, Genetic Testing/ethics/*standards, Genetics, Medical/ethics/organization & administration, *Heterozygote, Humans, *Practice Guidelines as Topic, Societies, Medical
National Category
Medical and Health Sciences
Research subject
Bioethics
Identifiers
URN: urn:nbn:se:uu:diva-342721ISBN: 1476-5438 (Electronic) 1018-4813 (Linking) OAI: oai:DiVA.org:uu-342721DiVA, id: diva2:1186592
Note

Henneman, Lidewij Borry, Pascal Chokoshvili, Davit Cornel, Martina C van El, Carla G Forzano, Francesca Hall, Alison Howard, Heidi C Janssens, Sandra Kayserili, Hulya Lakeman, Phillis Lucassen, Anneke Metcalfe, Sylvia A Vidmar, Lovro de Wert, Guido Dondorp, Wybo J Peterlin, Borut eng Research Support, Non-U.S. Gov't England 2016/03/17 06:00 Eur J Hum Genet. 2016 Jun;24(6):e1-e12. doi: 10.1038/ejhg.2015.271. Epub 2016 Mar 16.

Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-02-28

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