ReviewJournal of personalized medicine2019
Barriers and Facilitators to Genetic Testing for Familial Hypercholesterolemia in the United States: A Review.
Review in Journal of personalized medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Factors influencing the implementation of mental health recovery into services: a systematic mixed studies review.Systematic reviews · 2021Pooled it
- Understanding Barriers and Motivators of Familial Hypercholesterolemia Genetic Testing: Insights From the Singapore Public.Journal of genetic counseling · 2026Article
- Familial Hypercholesterolemia in Latin America: Unmet Needs, Barriers, and Challenges.Journal of lipid and atherosclerosis · 2026Review
- The IMPACT-FH Renewal Protocol: Evaluating FH Cascade Testing Implementation in Primary Care through a Pragmatic Trial, Economic Evaluation, and Mixed-Methods Sustainability Assessment.Public health genomics · 2026Article
- Barriers to the implementation of epilepsy genetic testing and counseling guidelines.Epilepsia open · 2025Article
- State-of-the-art review: The value of leveraging evidence and data (LEAD) in pediatric screening for familial hypercholesterolemia.American journal of preventive cardiology · 2025Review
- Implementing Precision Medicine for Dilated Cardiomyopathy: Insights From the DCM Consortium.Circulation. Genomic and precision medicine · 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
- Article
- Mapping the state-of-the-art of the barriers for personalized preventive approaches worldwide: A scoping review of reviews.PloS one · 2025Article
- Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.Current atherosclerosis reports · 2023Review
- How Can Implementation Science Improve the Care of Familial Hypercholesterolaemia?Current atherosclerosis reports · 2023Review
- Addressing the underdiagnosis of familial hypercholesterolemia: A mixed methods study exploring the knowledge and practice behaviors of cardiology healthcare providers.Journal of clinical and translational science · 2023Article
- Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases.Frontiers in cardiovascular medicine · 2023Article
- Motivating cascade testing for familial hypercholesterolemia: applying the extended parallel process model for clinician communication.Translational behavioral medicine · 2022Article
- Patient experiences align with the familial hypercholesterolemia global call to action.American journal of preventive cardiology · 2022Article
- The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.Frontiers in genetics · 2022Article
- Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.Journal of the American Heart Association · 2021Article
- Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.Circulation. Genomic and precision medicine · 2021Article
- Integrating Patient-Reported Outcomes Into Clinical Genetic Testing for Familial Hypercholesterolemia.Journal of patient-centered research and reviews · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Hypercholesterolemia (FH) is an underdiagnosed condition in the United States (US) and globally, affecting an estimated 1/250 individuals. It is a genetic risk factor for premature cardiovascular disease and is responsible for an estimated 600,000 to 1.2 million preventable vascular events. Studies show that FH genetic testing can identify a causal gene variant in 60 to 80% of clinically suspected FH cases. However, FH genetic testing is currently underutilized in clinical settings in the US despite clinical recommendations and evidence supporting its use. Reasons for underutilization are not well understood. We conducted a literature review in the PubMed/MEDLINE database and eight peer-reviewed journals. After filtering for and reviewing 2340 articles against our inclusion criteria, we included nine commentaries or expert opinions and eight empirical studies reported between January 2014 and March 2019 in our review. After applying the Consolidated Framework for Implementation Research (CFIR), we identified a total of 26 potential barriers and 15 potential facilitators (estimated barrier to facilitator ratio of 1.73). We further estimated ratios of potential barriers to facilitators for each CFIR domain (Characteristics of Intervention, Outer Setting, Inner Setting, Characteristics of Individuals, and Process). Findings derived from our systematic approach to the literature and calculations of estimated baseline ratios of barriers and facilitators can guide future research to understand FH genetic testing implementation in diverse clinical settings. Our systematic approach to the CFIR could also be used as a model to understand or compare barriers and facilitators to other evidence-based genetic testing processes in health care settings in the US and abroad.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.