Case-finding and genetic testing for familial hypercholesterolaemia in primary care.
Nadeem Qureshi,Ralph K. Akyea,Brittany Dutton,Steve E. Humphries,Hasidah Abdul Hamid,Laura Condon,Stephen F Weng,Joe Kai +7 more
TLDR
In this paper, a case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86,219 patients with cholesterol readings, identifying 3375 at increased risk of FH.Abstract:
Objective Familial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention study described the genetic and lipid profile of patients found at increased risk of FH and the outcomes in those with positive genetic test results. Methods In 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices’ population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care. Results Genetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolaemia who were managed in primary care. Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002). Conclusion Electronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. There needs to be a clearer management plan for these individuals in primary care. Trial registration number NCT03934320.read more
Citations
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Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care
Matthew Jones,Ralph K. Akyea,Katherine Payne,Steve E. Humphries,Hasidah Abdul-Hamid,S. Wen,Nadeem Qureshi +6 more
TL;DR: FAMCAT2 was found to dominate (cheaper and more effective) cholesterol and FAMCAT1 algorithms, and extendedly dominate DLCN, and Simon Broome found the largest number of FH cases yet required 102 genetic tests to identify one FH patient.
Journal ArticleDOI
Introducing genetic testing with case finding for familial hypercholesterolaemia in primary care: qualitative study of patient and health professional experience
TL;DR: In this paper , the authors explored patient and health professional experiences of introducing genetic testing with case finding for familial hypercholesterolaemia (FH) in primary care, and found that patients were unsurprised to be identified as being at risk, and positive about being offered genetic testing by their practice.
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Heartbeat: early intervention for rheumatic mitral stenosis.
TL;DR: Kang et al. as discussed by the authors compared early percutaneous mitral commissurotomy (PMC) to conventional care in rheumatic mitral stenosis patients and found that PMC-related complications, cardiovascular mortality, cerebral infarction and systemic thromboembolic events occurred in seven patients in the early PMC group (8.3%) compared with nine patients in conventional care group (10.8%) at a median follow-up of 6 years.
Journal ArticleDOI
Familial hypercholesterolaemia: genetic testing in general practice and beyond.
TL;DR: In this paper, the authors proposed a new approach to increase primary care involvement in diagnosing familial hypercholesterolaemia (FH) by offering FH genetic testing through general practitioners (GPs).
Journal Article
Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment.
TL;DR: In this paper , the authors performed a systematic literature search and conducted a cost-effectiveness and cost-utility analysis with a lifetime horizon from a public payer perspective, assuming the cost of genetic testing remains at $490 per person.
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TL;DR: This report goes beyond previously published guidelines by providing specific clinical guidance for the primary care clinician and lipid specialist with the goal of improving care of patients with FH and reducing their elevated risk for CHD.
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Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
Philippa J. Talmud,Sonia Shah,Ros Whittall,Marta Futema,Philip N. Howard,Jackie A. Cooper,Seamus C. Harrison,KaWah Li,Fotios Drenos,F Karpe,H. Andrew W. Neil,Olivier S. Descamps,Claudia Langenberg,Claudia Langenberg,Nicholas Lench,Mika Kivimäki,John C. Whittaker,John C. Whittaker,Aroon D. Hingorani,Meena Kumari,Steve E. Humphries +20 more
TL;DR: In a substantial proportion of patients with familial hypercholesterolaemia without a known mutation, their raised LDL-C concentrations might have a polygenic cause, which could compromise the efficiency of cascade testing.
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