An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease.

ABSTRACT: Genomic testing increasingly challenges health care providers and patients to understand, share, and use information. The provision of polygenic risks is anticipated to complicate comprehension, communication, and risk perception further. This manuscript aims to illuminate the challenges confronting families with multiple genetic risks for Parkinson's disease. Identifying and planning for such issues may prove valuable to family members now and in the future, should neuroprotective or genotype-specific therapies become available. We present qualitative data from interviews with a multi-generational family carrying pathogenic variants in the glucocerebrosidase (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes which are associated with an increased risk for developing Parkinson's disease

SUBMITTER: Daykin EC 

PROVIDER: S-EPMC10272062 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature