ArticleCJC open2021
Patient Perspectives Regarding Genetic Testing for Familial Hypercholesterolemia.
Article in CJC open, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis 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
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment.Ontario health technology assessment series · 2022Pooled it
- Preliminary Validation of a Novel Genetic Knowledge Scale for Familial Hypercholesterolemia: Evaluation of Face Validity and Core Concepts.Journal of genetic counseling · 2026Article
- Genetic Testing for Familial Hypercholesterolemia: The Current State of Its Implementation in Canada.CJC open · 2024Article
- Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report.Frontiers in cardiovascular medicine · 2022Article
- The design and rationale of the Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia (ACCURATE) study.American heart journal plus : cardiology research and practice · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial hypercholesterolemia (FH) is a common genetic disorder resulting in high levels of low-density lipoprotein cholesterol and increased risk of atherosclerotic cardiovascular disease. Genetic testing for FH is recommended but is not available in most of Canada. Consequently, there is a paucity of data regarding patient experiences with genetic testing. The objectives of this study were to investigate the attitudes and perspectives of patients with FH who underwent genetic testing.
methodsWe administered an anonymous online survey to participants in the British Columbia Familial Hypercholesterolemia Registry who had undergone research-based genetic testing for FH. The survey included 25 questions and explored patients' experiences with the genetic testing process, willingness to recommend genetic screening, and motivation to lower cholesterol levels.
resultsAmong 183 respondents, 38 (20.7%) had a positive genetic test result, 27 (14.8%) had a negative result, and 118 (64.4%) were awaiting their results. Compared with individuals awaiting their test results, participants with a positive genetic test were more likely to believe lipid-lowering therapy was highly important (74.3% vs 55.4%;
conclusionsTo our knowledge, this is the first study in Canada to explore the perspectives of patients with FH who underwent genetic testing. These results suggest that genetic testing for FH might offer benefits in important patient-centred outcomes.
Identifiers
What OpenQuestion holds
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.