Journal article

Responsible implementation of expanded carrier screening

Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hulya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A Metcalfe, Lovro Vidmar, Guido de Wert, Wybo J Dondorp, Borut Peterlin



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 havi..

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Funding Acknowledgements

ESHG members and other experts are acknowledged for their helpful comments on an earlier draft of this document, in particular Carsten Bergmann, Jean-Jacques Cassiman, Angus Clarke, Gunnar Houge, Helena Kaariainen, Leo P ten Kate, Neha Kumar, Gert Matthijs, Dragica Radojkovic, Maria Soller, Lisbeth Tranebjaerg, members of the Dutch Working Group Preconception Carrier Screening, and members of the Italian Society of Human Genetics (SIGU). Grants for (implementation) research on carrier screening were received from The Netherlands Organisation for Health Research and Development (ZonMw) (LH, PL, WJD, GdW), Clinical Research Fund UZ Ghent (SJ, DC), the Research Fund Flanders (PB), National Health and Medical Research Council, Victorian Government's Operational Infrastructure Support Programme, Shepherd Foundation, Helen MacPherson Smith Trust, the Apex Foundation and the Fragile X Alliance (SAM).