Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.

ABSTRACT:

Purpose

The knowledge used to classify genetic variants is continually evolving, and the classification can change on the basis of newly available data. Although up-to-date variant classification is essential for clinical management, reproductive planning, and identifying at-risk family members, there is no consistent practice across laboratories or clinicians on how or under what circumstances to perform variant reinterpretation.

Methods

We conducted exploratory focus groups (N = 142) and surveys (N = 1753) with stakeholders involved in the process of variant reinterpretation (laboratory directors, clinical geneticists, genetic counselors, nongenetic providers, and patients/parents) to assess opinions on key issues, including initiation of reinterpretation, variants to repo

SUBMITTER: Berger SM 

PROVIDER: S-EPMC10407574 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature