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Per Med. 2016 Nov;13(6):553-562. doi: 10.2217/pme-2016-0018. Epub 2016 Oct 13.

Designing expanded carrier screening panels: results of a qualitative study with European geneticists.

Author information

1
Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35, Box 7001, 3000 Leuven, Belgium.
2
Centre for Medical Genetics Ghent, University Hospital Ghent. De Pintelaan 185, 9000 Ghent, Belgium.

Abstract

AIM:

To explore the views of clinical and molecular geneticists on the inclusion of disorders and specific pathogenic mutations into expanded carrier screening (ECS) tests for reproductive purposes.

MATERIALS & METHODS:

In-depth semistructured interviews were conducted with 16 European geneticists between April and September 2014.

RESULTS:

All participants supported carrier screening for severe, childhood-onset autosomal recessive disorders with known natural history. Some participants were also in favor of screening for late-onset and X-linked disorders. Regarding selection of specific pathogenic mutations, our participants argued that ECS should include highly penetrant pathogenic mutations with known genotype-phenotype associations.

CONCLUSION:

This study highlights main challenges surrounding the development of ECS panels and offers suggestions for future research in this rapidly advancing field.

KEYWORDS:

expanded carrier screening; genetics; interviews; population screening; qualitative research; reproductive genetics

PMID:
29754544
DOI:
10.2217/pme-2016-0018

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