Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11883-023-01177-0.pdf
Reference60 articles.
1. Marks D, Thorogood M, Neil HAW, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 2003;168(1):1–14.
2. Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open. 2017;7(9):e016461.
3. Gratton J, Humphries SE, Futema M. Prevalence of FH-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank-Brief report. Arterioscler Thromb Vasc Biol. 2023;43(9):1737–42. The study included 140,439 European, 4067 South Asian and 3906 African participants in the UK BioBank. No statistical difference in the prevalence of an FH-causing variant was observed (1/288 in Europe, 1/260 in Africa and 1/226 in South Asia). Carriers of an FH-causing variant had significantly higher LDL-C concentrations than noncarriers in every ancestry group. There was no difference in mean (statin-use adjusted) LDL-C concentration in FH-variant carriers depending on their ancestry background.
4. NHS England. NHS long term plan [Internet] 2019 2022 https://www.longtermplan.nhs.uk/wp-content/uploads/2019/01/nhs-long-term-plan.pdf.
5. Kerr M, Pears R, Miedzybrodzka Z, Haralambos K, Cather M, Watson M, et al. Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. Eur Heart J. 2017;38(23):1832–9.
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