ArticleBMC medical genetics2012
Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods.
Article in BMC medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed.
- Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.Circulation. Genomic and precision medicine · 2022Article
- Introducing genetic testing with case finding for familial hypercholesterolaemia in primary care: qualitative study of patient and health professional experience.The British journal of general practice : the journal of the Royal College of General Practitioners · 2022Article
- Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis.BMJ open · 2019Review
- A qualitative study of patients' perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH).Journal of community genetics · 2017Article
- Patients' perceptions and experiences of familial hypercholesterolemia, cascade genetic screening and treatment.International journal of behavioral medicine · 2015Article
- Treatment decision making for adolescents with familial hypercholesterolemia: Role of family history and past experiences.Journal of clinical lipidologyArticle
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
backgroundContinuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with any screening programme, is the response of the patient to the findings of screening, whether the outcome is positive or negative. Such concern is heightened for genetic testing, which it is feared may elicit stronger reactions than non-genetic testing.
methodsThis paper draws on thematic analysis of 113 semi-structured interviews with 39 patients being tested for familial hypercholesterolaemia (FH), an inherited predisposition to early-onset heart disease. It examines the impact of disease risk assessments based on both genetic and non-genetic information, or solely non-genetic information.
resultsThe impact of diagnostic testing did not seem to vary according to whether or not genetic information was used. More generally, being given a positive or negative diagnosis of FH had minimal discernible impact on people's lives as they maintained the continuity of their beliefs and behaviour.
conclusionsThe results suggest that concerns about the use of genetic testing in this context are unfounded, a conclusion that echoes findings from studies in this and other health contexts.
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Registered trials
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