ArticleJournal of community genetics2011
Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study.
Article in Journal of community genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Barriers and facilitators for cascade testing in genetic conditions: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- 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
- Public attitudes toward cascade genetic screening in the United States.Health affairs scholar · 2026Article
- Facilitators and Barriers to Uptake of Genetic and Cascade Testing in Familial Hypercholesterolemia: a Systematic Review.International journal of behavioral medicine · 2026Article
- Family genetic risk communication and reverse cascade testing in the BabySeq project.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.Health technology assessment (Winchester, England) · 2023Article
- Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.CJC pediatric and congenital heart disease · 2023Article
- Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM).European journal of human genetics : EJHG · 2023Review
- Patient Decision-Making About Self-Disclosure of a Type 2 Diabetes Diagnosis: A Qualitative Study.Diabetes spectrum : a publication of the American Diabetes Association · 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
- Electronic health record access by patients as an indicator of information seeking and sharing for cardiovascular health promotion in social networks: Secondary analysis of a randomized clinical trial.Preventive medicine reports · 2019Article
- Parents' views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study.Journal of community genetics · 2019Article
- Predictors of Family Enrollment in a Genetic Cascade Screening Program for Familial Hypercholesterolemia.Arquivos brasileiros de cardiologia · 2018Article
- A novel approach to screening for familial hypercholesterolemia in a large public venue.Journal of community genetics · 2017Article
- A qualitative study of patients' perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH).Journal of community genetics · 2017Article
- Cardiovascular Cascade Genetic Testing: Exploring the Role of Direct Contact and Technology.Frontiers in cardiovascular medicine · 2016Review
- Patients' perceptions and experiences of familial hypercholesterolemia, cascade genetic screening and treatment.International journal of behavioral medicine · 2015Article
- Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications.European journal of human genetics : EJHG · 2014Article
- Health care providers' perspective on using family history in the prevention of type 2 diabetes: a qualitative study including different disciplines.BMC family practice · 2013Article
- Overcoming the real and imagined barriers to cholesterol screening in pediatrics.Journal of clinical lipidologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Familial DNA cascade screening for familial hypercholesterolemia (FH) has recently been introduced in Scotland. This study investigated index patients' experiences of DNA testing and mediating cascade screening. Thirty-eight patients with a clinical diagnosis of definite or possible FH who had undergone DNA testing in the lipid clinic took part in semi-structured qualitative interviews. All patients were positive about DNA screening being undertaken by familiar and trusted clinicians within the lipid clinic. Most patients had already cascaded close relatives for serum cholesterol testing following their attendance at the lipid clinic. Identified mutation carriers who had attended the genetics clinic (n = 15) for a cascading appointment described finding this consultation helpful because it identified other at-risk family members and provided them with tailored information for their relatives. Participants who expressed a preference said they favoured indirect (patient-mediated) methods of cascading as they considered indirect approaches to be less threatening to family members than direct clinical contact. We conclude that DNA screening and indirect familial cascading is perceived as highly acceptable to index patients with FH. However, while indirect cascading methods may be more acceptable to patients, they do not yield the same numbers as more direct methods. There is, therefore, a need for further systematic research to investigate patients', family members' and staff views of the acceptability of direct versus indirect methods of cascade screening.
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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.