Facilitators and Barriers to Uptake of Genetic and Cascade Testing in Familial Hypercholesterolemia: a Systematic Review.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is an underdiagnosed autosomal dominant genetic disorder that confers high but preventable risk for premature adverse cardiovascular events. Timely diagnosis is limited by low uptake of genetic testing (GT) and cascade testing (CT). This systematic review identifies barriers and facilitators for uptake of GT and CT in FH.

Method

Following PRISMA guidelines, seven databases were searched for studies on GT/CT in FH. Data reporting standards for qualitative studies were evaluated with COREQ and thematic synthesis was conducted. Of the 387 studies identified, 15 were included (qualitative N = 9, quantitative N = 6). These involved 272,954 respondents (qualitative n = 243, quantitative n = 272,711). COREQ scores ranged from 11 to 21 o

SUBMITTER: Lenin C 

PROVIDER: S-EPMC12935743 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature