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

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.