Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

ABSTRACT:

Purpose

Large-scale, population-based biobanks integrating health records and genomic profiles may provide a platform to identify individuals with disease-predisposing genetic variants. Here, we recall probands carrying familial hypercholesterolemia (FH)-associated variants, perform cascade screening of family members, and describe health outcomes affected by such a strategy.

Methods

The Estonian Biobank of Estonian Genome Center, University of Tartu, comprises 52,274 individuals. Among 4776 participants with exome or genome sequences, we identified 27 individuals who carried FH-associated variants in the LDLR, APOB, or PCSK9 genes. Cascade screening of 64 family members identified an additional 20 carriers of FH-associated variants.

Results

Via genetic counseling and

SUBMITTER: Alver M 

PROVIDER: S-EPMC6443485 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature