Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research.

ABSTRACT: Genetic screening can be hugely beneficial, yet its expansion poses clinical and ethical challenges due to results of uncertain clinical relevance (such as 'cystic fibrosis screen positive, inconclusive diagnosis'/CFSPID). This review systematically identifies, appraises, and synthesises the qualitative research on experiences of receiving results of uncertain clinical relevance from population genetic screening. Eight databases were systematically searched for original qualitative research using the SPIDER framework, and checked against inclusion criteria by the research team and an independent researcher. Nine papers were included (from USA, Canada, UK, New Zealand). PRISMA, ENTREQ, and EMERGE guidance were used to report. Quality was appraised using criteria for qualitative research. Al

SUBMITTER: Johnson F 

PROVIDER: S-EPMC9090782 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature