ArticleCirculation. Genomic and precision medicine2021
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.
Article in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 29 citations in OpenAlex.
- Integrating Genetic Counseling in Cardiology Clinics: From Guidelines to Practice.Reviews in cardiovascular medicine · 2026Article
- Facilitators and Barriers to Uptake of Genetic and Cascade Testing in Familial Hypercholesterolemia: a Systematic Review.International journal of behavioral medicine · 2026Article
- A novel outreach approach for identification of familial hypercholesterolemia: Interview-based formative evaluation to improve healthcare access and quality.PEC innovation · 2025Article
- Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practice.American journal of preventive cardiology · 2025Article
- Familial communication and cascade testing following elective genomic testing.Journal of genetic counseling · 2025Article
- Reporting Modifications from the IMPACT-FH Study Using the FRAME-IS.Public health genomics · 2025Article
- IMPACT-FH Study for Implementing Innovative Family Communication and Cascade Testing Strategies for 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
- "I Didn't Have to Worry about It": Patient and Family Experiences with Health System Involvement in Notifying Relatives of Genetic Test Results.Public health genomics · 2024Article
- Facilitating family communication of familial hypercholesterolemia genetic risk: Assessing engagement with innovative chatbot technology from the IMPACT-FH study.PEC innovation · 2023Article
- Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.Current atherosclerosis reports · 2023Review
- Optimizing communication strategies and designing a comprehensive program to facilitate cascade testing for familial hypercholesterolemia.BMC health services research · 2023Article
- How Can Implementation Science Improve the Care of Familial Hypercholesterolaemia?Current atherosclerosis reports · 2023Review
- Designing implementation strategies to improve identification, cascade testing, and management of families with familial hypercholesterolemia: An intervention mapping approach.Frontiers in health services · 2023Article
- Applications of machine learning in familial hypercholesterolemia.Frontiers in cardiovascular medicine · 2023Review
- A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.Circulation. Genomic and precision medicine · 2022Article
- Motivating cascade testing for familial hypercholesterolemia: applying the extended parallel process model for clinician communication.Translational behavioral medicine · 2022Article
- Digital health-enabled genomics: Opportunities and challenges.American journal of human genetics · 2022Review
Corrections and comments
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Authors and funding
29 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundFamilial hypercholesterolemia (FH) is the most common cardiovascular genetic disorder and, if left untreated, is associated with increased risk of premature atherosclerotic cardiovascular disease, the leading cause of preventable death in the United States. Although FH is common, fatal, and treatable, it is underdiagnosed and undertreated due to a lack of systematic methods to identify individuals with FH and limited uptake of cascade testing. METHODS AND
resultsThis mixed-method, multi-stage study will optimize, test, and implement innovative approaches for both FH identification and cascade testing in 3 aims. To improve identification of individuals with FH, in Aim 1, we will compare and refine automated phenotype-based and genomic approaches to identify individuals likely to have FH. To improve cascade testing uptake for at-risk individuals, in Aim 2, we will use a patient-centered design thinking process to optimize and develop novel, active family communication methods. Using a prospective, observational pragmatic trial, we will assess uptake and effectiveness of each family communication method on cascade testing. Guided by an implementation science framework, in Aim 3, we will develop a comprehensive guide to identify individuals with FH. Using the Conceptual Model for Implementation Research, we will evaluate implementation outcomes including feasibility, acceptability, and perceived sustainability as well as health outcomes related to the optimized methods and tools developed in Aims 1 and 2.
conclusionsData generated from this study will address barriers and gaps in care related to underdiagnosis of FH by developing and optimizing tools to improve FH identification and cascade testing.
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Registered trials
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