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dc.contributor.authorHenneman, L
dc.contributor.authorBorry, P
dc.contributor.authorChokoshvili, D
dc.contributor.authorCornel, MC
dc.contributor.authorvan El, CG
dc.contributor.authorForzano, F
dc.contributor.authorHall, A
dc.contributor.authorHoward, HC
dc.contributor.authorJanssens, S
dc.contributor.authorKayserili, H
dc.contributor.authorLakeman, P
dc.contributor.authorLucassen, A
dc.contributor.authorMetcalfe, SA
dc.contributor.authorVidmar, L
dc.contributor.authorde Wert, G
dc.contributor.authorDondorp, WJ
dc.contributor.authorPeterlin, B
dc.date.accessioned2021-02-05T01:09:39Z
dc.date.available2021-02-05T01:09:39Z
dc.date.issued2016-06-01
dc.identifierpii: ejhg2015271
dc.identifier.citationHenneman, L., Borry, P., Chokoshvili, D., Cornel, M. C., van El, C. G., Forzano, F., Hall, A., Howard, H. C., Janssens, S., Kayserili, H., Lakeman, P., Lucassen, A., Metcalfe, S. A., Vidmar, L., de Wert, G., Dondorp, W. J. & Peterlin, B. (2016). Responsible implementation of expanded carrier screening. EUROPEAN JOURNAL OF HUMAN GENETICS, 24 (6), pp.E1-E12. https://doi.org/10.1038/ejhg.2015.271.
dc.identifier.issn1018-4813
dc.identifier.urihttp://hdl.handle.net/11343/260289
dc.description.abstractThis 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.
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://creativecommons.org/licenses/by-nc-sa/4.0
dc.titleResponsible implementation of expanded carrier screening
dc.typeJournal Article
dc.identifier.doi10.1038/ejhg.2015.271
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleEuropean Journal of Human Genetics
melbourne.source.volume24
melbourne.source.issue6
melbourne.source.pagesE1-E12
dc.rights.licenseCC BY-NC-SA
melbourne.elementsid1048840
melbourne.contributor.authorMetcalfe, Sylvia
dc.identifier.eissn1476-5438
melbourne.accessrightsOpen Access


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