ArticleJournal of community genetics2017
A qualitative study of patients' perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH).
Article in Journal of community genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Barriers and facilitators for cascade testing in genetic conditions: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- Understanding Barriers and Motivators of Familial Hypercholesterolemia Genetic Testing: Insights From the Singapore Public.Journal of genetic counseling · 2026Article
- Preliminary Validation of a Novel Genetic Knowledge Scale for Familial Hypercholesterolemia: Evaluation of Face Validity and Core Concepts.Journal of genetic counseling · 2026Article
- FH Genetic Testing in Preventive Cardiology: Unpacking Challenges and Enablers Beyond Cost.BMC health services research · 2026Article
- Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study.JMIR research protocols · 2023Article
- 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
- Therapeutic potential of herbal medicine for the management of hyperlipidemia: latest updates.Environmental science and pollution research international · 2022Review
- Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis.BMJ open · 2019Review
- Genetics, Dyslipidemia, and Cardiovascular Disease: New Insights.Current cardiology reports · 2019Review
- Parents' views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study.Journal of community genetics · 2019Article
- Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia.European journal of human genetics : EJHG · 2018Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
For many years, familial hypercholesterolemia (FH), an inherited disorder, has been diagnosed using phenotypic features plus family history of early onset cardiovascular disease (CVD), and has been successfully treated using statin therapy. DNA testing is now available and this has been incorporated into familial cascade screening programmes in many parts of Europe. Little is known about patients' perceptions of the value of undergoing molecular diagnosis for FH. In-depth interviews were carried out with patients (n = 38) being treated for FH who were the first in their family to undergo DNA testing for FH. Data were analysed thematically. While interviewees regarded DNA testing as an unexceptional event, it was seen as a positive innovation because it confirmed that their family carried a particular disorder, offered an aetiological explanation for their hypercholesterolemia and provided information about their own and family members' future risks. From the patient perspective, the main benefit of molecular diagnosis lies in its ability to provide information which allows (younger) family members to access genetic screening and, thus, timely treatment. The implications for future developments in genetic services and the need to investigate further the provision of molecular testing in mainstream specialties are briefly discussed.
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