Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.

ABSTRACT: With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results-including secondary findings (SF)-are being returned, although policies around generation and management remain inconsistent. In order to inform relevant policy, it is essential that the views of stakeholders be considered-including participants who have made decisions about SF since the wider debate began. We conducted semi-structured interviews with sixteen rare disease patients and parents enroled in genome sequencing to explore views towards SF. Informed by extensive contact with the healthcare system, interviewees demonstrated high levels of understanding of genetic testing and held pragmatic views: many are content not knowing SF. Interviewees expressed trust in the syst

SUBMITTER: Mackley MP 

PROVIDER: S-EPMC5945590 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature