Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2021
A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia.
Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04526457 (Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia), which is not on this map. Cited by 8 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.
Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
Who cites it
8 citing papers in PubMed, 22 citations in OpenAlex.
- Family Leaders Navigate Burden to Communicate Risk during Cascade Screening after Sudden Cardiac Death in the Young.Public health genomics · 2026Article
- IMPACT-FH Study for Implementing Innovative Family Communication and Cascade Testing Strategies for Familial Hypercholesterolemia.JACC. Advances · 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
- Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Web-Based Tool (FH Family Share) to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia: Development and Evaluation.JMIR human factors · 2022Article
- The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.Frontiers in genetics · 2022Article
- A Focus Group Study of Perceptions of Genetic Risk Disclosure in Members of the Public in Sweden: "I'll Phone the Five Closest Ones, but What Happens to the Other Ten?"Journal of personalized medicine · 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
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeFamily-based cascade screening from index probands is considered an effective way of identifying undiagnosed individuals with familial hypercholesterolemia (FH). The role of genetic testing of the proband in the success of cascade screening for FH is unknown.
methodsWe randomized 240 individuals with a clinical diagnosis of FH to genetic testing for FH (n = 160) or usual care with lipid testing alone (n = 80). The primary study endpoint was the proportion of probands with at least one relative enrolled in the study within one year after the notification of results.
resultsProband median age was 59 (47-67) and 71% were female. Only 28 (12%) probands succeeded in enrolling a relative. While the genetic testing group had a higher proportion of probands with relatives enrolled (13.1%) compared with the usual care group (8.8%), this difference was not significant (p = 0.40). In subgroup analyses, enrollment of a relative was higher in the pathogenic variant group (22.7%) compared to the no pathogenic variant (9.5%) and usual care groups (8.8%) (p = 0.04).
conclusionWe observed a low rate of family participation in cascade screening despite repeated recommendations to probands. Compared to usual care, genetic testing did not improve family participation in cascade screening for FH. CLINICAL TRIAL NUMBER: NCT04526457.
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