Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.

ABSTRACT: The availability and cost of next-generation sequencing (NSG) now allow testing large numbers of genes simultaneously. However, the gold standard for predictive testing has been to test only for a known family mutation or confirmed family disease. The goal of this study was to investigate the psychological impact of predictive testing for autosomal dominant neurodegenerative diseases without a known family mutation using next-generation sequencing panels compared to single-gene testing of a known family mutation. Fourteen individuals from families with a known mutation and 10 individuals with unknown family mutations participated. Participants completed questionnaires on demographics, genetic knowledge, and psychological measures of anxiety, depression, perceived personal control, ruminati

SUBMITTER: Goldman J 

PROVIDER: S-EPMC10699540 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature