Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.

ABSTRACT: Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult-onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study therefore aimed to characterize genetic result communication in families with rare and undiagnosed conditions and identify factors that influence communication. One hundred and forty-two individuals who received a diagnosis from the Undiagnosed Diseases Network (UDN), a study focused on providing diagnoses to individuals with undiagnosed conditions, were eligible to complete a survey assessing genetic results communication. Survey

SUBMITTER: Studwell CM 

PROVIDER: S-EPMC8207526 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature