SynthesisCirculation. Genomic and precision medicine2019
New Case Detection by Cascade Testing in Familial Hypercholesterolemia: A Systematic Review of the Literature.
Synthesis in Circulation. Genomic and precision medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review.PharmacoEconomics · 2024Pooled it
- A systematic review of theory-informed strategies used in interventions fostering family genetic risk communication.Patient education and counseling · 2022Pooled it
- Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical Trial.JAMA network open · 2026Trial
- A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Beyond the Index Case: A Practical Framework for Cascade Family Screening in Hereditary Angioedema.Clinical reviews in allergy & immunology · 2026Review
- Cardiovascular Genetic Epidemiology in the Genome-Wide Era: From Association Discovery to Mechanistic Dissection and Clinical Translation.Cardiovascular drugs and therapy · 2026Review
- Implementing a primary-tertiary shared care model for enhancing cascade testing for familial hypercholesterolaemia: an effectiveness-implementation hybrid type III pre-post study.Implementation science communications · 2026Article
- 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
- Recognition and management of persistent chylomicronemia: A joint expert clinical consensus by the National Lipid Association and the American Society for Preventive Cardiology.American journal of preventive cardiology · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Reporting Modifications from the IMPACT-FH Study Using the FRAME-IS.Public health genomics · 2025Article
- Attitudes toward returning pathogenicGenetics in medicine open · 2025Article
- Treating Familial Hypercholesterolemia: An Insistence on Persistence.JACC. Case reports · 2024Article
- 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
- 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
- Obesity: An Impact with Cardiovascular and Cerebrovascular Diseases.Indian journal of clinical biochemistry : IJCB · 2024Review
- Effect of clinical decision support for severe hypercholesterolemia on low-density lipoprotein cholesterol levels.NPJ digital medicine · 2024Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe prevalence of familial hypercholesterolemia is 1 in 250, but <10% of patients are diagnosed. Cascade testing enables early detection of cases through systematic family tracing. Establishment of familial hypercholesterolemia cascade testing programs in the US could be informed by approaches used elsewhere.
methodsWe conducted a systematic review of published studies in the English language of cascade testing for familial hypercholesterolemia, which reported the number of index cases and number of relatives tested and specified methods of contacting relatives and testing modalities methods utilized. For each study, we calculated yield (proportion of relatives who test positive) and new cases per index case, to facilitate comparison.
resultsWe identified 10 studies from the literature that met inclusion criteria; the mean number of probands and relatives per study was 242 and 826, respectively. The average yield was 44.76% with a range of 30% to 60.5%, and the mean new cases per index case was 1.65 with a range of 0.22 to 8.0. New cases per index case tended to be greater in studies that used direct contact versus indirect contact (2.06 versus 0.86), tested beyond first-degree relatives versus only first-degree relatives (3.65 versus 0.80), used active sample collection versus collection at clinic (4.11 versus 1.06), and utilized genetic testing versus biochemical testing (2.47 versus 0.42).
conclusionsNew case detection in familial hypercholesterolemia cascade testing programs tended to be higher with direct contact of relatives, testing beyond first-degree relatives, in-home-based sample collection, and genetic testing. These findings should be helpful for establishing cascade testing programs in the United States.
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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.