Designing expanded carrier screening panels: results of a qualitative study with European geneticists. (November 2016)

• Record Type: Journal Article
• Authors: Chokoshvili, Davit; Janssens, Sandra; Vears, Danya; Borry, Pascal
• Is Part Of: Personalized medicine. Volume 13:Number 6(2016)
• Page Start: 553
• Page End: 562
• Publication Date: 2016-11
• Subjects: expanded carrier screening -- genetics -- interviews -- population screening -- qualitative research -- reproductive genetics; Pharmacogenomics -- Periodicals; Pharmacogenetics -- Periodicals; 615.19
• DOI: 10.2217/pme-2016-0018
• Languages: English
• ISSNs: 1741-0541

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.