ArticleAmerican journal of preventive cardiology2021
A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model.
Article in American journal of preventive cardiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed.
- Public attitudes toward cascade genetic screening in the United States.Health affairs scholar · 2026Article
- Cascade Chatbot: A Scalable Approach to Family-Based Genetic Testing for Hereditary Cancer Syndromes.JCO clinical cancer informatics · 2026Article
- Familial communication and cascade testing following elective genomic testing.Journal of genetic counseling · 2025Article
- A qualitative study of perceptions of the care pathway for familial hypercholesterolemia: screening, diagnosis, treatment, and family cascade screening.Implementation science communications · 2024Article
- The Power of the Pedigree: Cascade Screening in Familial Hypercholesterolemia.JACC. Advances · 2024Article
- Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling.Journal of personalized medicine · 2024Article
- Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial.Implementation science : IS · 2024Article
- It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.Global heart · 2024Article
- Article
- Barriers and shortcomings in access to cardiovascular management and prevention for familial hypercholesterolemia during the COVID-19 pandemic.Clinical cardiology · 2023Review
- Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.Current atherosclerosis reports · 2023Review
- The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.Frontiers in genetics · 2022Article
- Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).Journal of personalized medicine · 2021Article
- Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study.Journal of personalized medicine · 2021Article
- Using implementation science to develop a familial hypercholesterolemia screening program in primary care: The CARE-FH study.Journal of clinical lipidologyArticle
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7 authors.
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Abstract
backgroundThe Dutch cascade screening model for FH was the most successful of such programs in the world. It remains unclear whether aspects of the Dutch model (i.e. direct engagement with FH probands and relatives outside usual healthcare settings) are feasible in the US. This is especially important since prior attempts at cascade screening in the US have had very low screening rates (<10% of families screened).
methodsWe conducted a multi-site single-arm proof-of-concept study in which the US-based FH Foundation (a 501c3 research and advocacy organization) directly engaged with FH probands and relatives similar to the approach taken by the Dutch "Foundation for Tracing FH."
resultsEleven unrelated probands with genetically confirmed FH were enrolled. Mean age was 43 years; 82% were women, and 82% were of European ancestry. Prior to enrolling into the study, only 2 families (18% screening rate) were screened for FH with both lipid measurements and genetic testing. Two probands declined cascade screening due to fear over genetic discrimination. Nine total relatives engaged with the FH Foundation. Mean age was 43 years and 44% were women. Seven of those relatives (from 6 families; 55% screening rate) consented to be screened for FH with lipid measurement and genetic testing. The two additional relatives - men ages 39 and 49 - agreed to lipid measurements but not genetic testing, each noting he would like to think more about genetic testing.
conclusionsOur proof-of-concept study demonstrates the feasibility of the FH Foundation engaging FH probands and their relatives outside the usual healthcare settings for cascade screening, similar to the Dutch model. We found only 18% of families had already been screened, and after engaging with the FH Foundation, 55% of families were willing to participate in cascade screening. These findings suggest the methods described here may improve cascade screening rates in the US.
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