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

Abstract

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. In-depth semistructured interviews were conducted with 16 European geneticists between April and September 2014. 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. This study highlights main challenges surrounding the development of ECS panels and offers suggestions for future research in this rapidly advancing field.