Responsible implementation of expanded carrier screening.
Responsible implementation of expanded carrier screening.
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.European Journal of Human Genetics advance online publication, 16 March 2016; doi:10.1038/ejhg.2015.271.
1-12
Henneman, Lidewij
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Borry, Pascal
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Chokoshvili, Davit
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Cornel, Martina C.
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van El, Carla G.
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Forzano, Francesca
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Hall, Alison
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Howard, Heidi C.
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Janssens, Sandra
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Kayserili, Hülya
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Lakeman, Phillis
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Lucassen, Anneke
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Metcalfe, Sylvia A.
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Vidmar, Lovro
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de Wert, Guido
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Dondorp, Wybo J.
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Peterlin, Borut
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16 March 2016
Henneman, Lidewij
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Borry, Pascal
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Chokoshvili, Davit
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Cornel, Martina C.
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van El, Carla G.
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Forzano, Francesca
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Hall, Alison
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Howard, Heidi C.
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Janssens, Sandra
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Kayserili, Hülya
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Lakeman, Phillis
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Lucassen, Anneke
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Metcalfe, Sylvia A.
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Vidmar, Lovro
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de Wert, Guido
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Dondorp, Wybo J.
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Peterlin, Borut
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Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C., van El, Carla G., Forzano, Francesca, Hall, Alison, Howard, Heidi C., Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A., Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J. and Peterlin, Borut
(2016)
Responsible implementation of expanded carrier screening.
European Journal of Human Genetics, .
(doi:10.1038/ejhg.2015.271).
(PMID:26980105)
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.European Journal of Human Genetics advance online publication, 16 March 2016; doi:10.1038/ejhg.2015.271.
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Responsible implementation of expanded carrier.pdf
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Accepted/In Press date: 18 November 2015
Published date: 16 March 2016
Organisations:
Cancer Sciences
Identifiers
Local EPrints ID: 390275
URI: http://eprints.soton.ac.uk/id/eprint/390275
ISSN: 1018-4813
PURE UUID: ed5907db-4844-436d-a4dd-539d10d641a0
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Date deposited: 23 Mar 2016 09:42
Last modified: 15 Mar 2024 03:11
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Contributors
Author:
Lidewij Henneman
Author:
Pascal Borry
Author:
Davit Chokoshvili
Author:
Martina C. Cornel
Author:
Carla G. van El
Author:
Francesca Forzano
Author:
Alison Hall
Author:
Heidi C. Howard
Author:
Sandra Janssens
Author:
Hülya Kayserili
Author:
Phillis Lakeman
Author:
Sylvia A. Metcalfe
Author:
Lovro Vidmar
Author:
Guido de Wert
Author:
Wybo J. Dondorp
Author:
Borut Peterlin
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