Article

Population genomic screening leads to improved lipid management in patients with familial hypercholesterolemia

2025-03-14

Abstract excerpt

<h4>Background</h4> The Helix Research Network TM program is a large population genomics initiative that screens an all-comers population of patients for CDC Tier 1 genetic conditions, including familial hypercholesterolemia (FH). We evaluated changes in clinical management and LDL cholesterol (LDL-C) levels among patients we identified to have FH. <h4>Methods</h4> Participants across eight U.S. health systems pro...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 64ca8a2b-5a73-50e3-88ed-a43ef8471688
DOI: 10.1101/2025.03.13.25323900

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Population genomic screening leads to improved lipid management in patients with familial hypercholesterolemiaDOI 10.1101/2025.03.13.25323900Read

Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare SystemSemantic proximity Read

Management and Consequences of Genotype-Positive Familial Hypercholesterolemia.Semantic proximity Read

Clinical characteristics and lipid management of patients with familial hypercholesterolemia: results from a 7 years single-centre experience.Semantic proximity Read

Genetic identification of familial hypercholesterolemia within a single U.S. health care systemSemantic proximity Read

Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of ResultsSemantic proximity Read

Genotype-guided diagnosis in familial hypercholesterolemia: population burden and cascade screening.Semantic proximity Read

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia DiagnosisSemantic proximity Read

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from EstoniaSemantic proximity Read

Incorporation of genetic testing significantly increases the number of individuals diagnosed with familial hypercholesterolemia.Semantic proximity Read

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.Semantic proximity Read

Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system.Semantic proximity Read

Enhanced identification of familial hypercholesterolemia using central laboratory algorithms.Semantic proximity Read