A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.

ABSTRACT: Exome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients' interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients' needs. Therefore, this article examines the meaning of UFs from a patient perspective. A qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease. Patients assign a complex meaning to UFs, including three main components. The first component focuses on result-specific qualities, i.e. the characteristics of an UF (inclusive of actionability, penetrance, sev

SUBMITTER: Saelaert M 

PROVIDER: S-EPMC8339116 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature