Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?

IF 5.7 2区医学 Q1 PERIPHERAL VASCULAR DISEASE

Current Atherosclerosis Reports Pub Date : 2023-12-01 Epub Date: 2023-12-07 DOI:10.1007/s11883-023-01177-0

Steve E Humphries, Uma Ramaswami, Neil Hopper

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Abstract

Purpose of review: The UK National Health Service (NHS) has recently announced a Newborn Genomes Programme (NGP) to identify infants with treatable inherited disorders using whole genome sequencing (WGS). Here, we address, for familial hypercholesterolaemia (FH), the four principles that must be met for the inclusion of a disorder in the NGP.

Recent findings: Principle A: There is strong evidence that the genetic variants causing FH can be reliably detected. Principle B: A high proportion of individuals who carry an FH-causing variant are likely to develop early heart disease if left undiagnosed and not offered appropriate treatment. Principle C: Early intervention has been shown to lead to substantially improved outcomes in children with FH. Principle D: The recommended interventions are equitably accessible for all. FH meets all the Wilson and Jungner criteria for inclusion in a screening programme, and it also meets all four principles and therefore should be included in the Newborn Genomes Programme.

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家族性高胆固醇血症应该纳入英国新生儿全基因组测序计划吗?

综述目的:英国国家卫生服务(NHS)最近宣布了一项新生儿基因组计划(NGP)，利用全基因组测序(WGS)识别患有可治疗遗传性疾病的婴儿。在这里，我们讨论，对于家族性高胆固醇血症(FH)，必须满足四个原则纳入NGP疾病。原则A:有强有力的证据表明，可以可靠地检测到引起FH的遗传变异。原则B:如果不及时诊断，不给予适当治疗，很大一部分携带致fh变异的个体很可能发展为早期心脏病。原则C:早期干预已被证明可显著改善FH患儿的预后。原则D:所有人都能公平地获得建议的干预措施。FH符合纳入筛查规划的所有Wilson和Jungner标准，也符合所有四项原则，因此应纳入新生儿基因组规划。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Atherosclerosis Reports 医学-

CiteScore

9.00

自引率

3.40%

发文量

审稿时长

6-12 weeks

期刊介绍： The aim of this journal is to systematically provide expert views on current basic science and clinical advances in the field of atherosclerosis and highlight the most important developments likely to transform the field of cardiovascular prevention, diagnosis, and treatment. We accomplish this aim by appointing major authorities to serve as Section Editors who select leading experts from around the world to provide definitive reviews on key topics and papers published in the past year. We also provide supplementary reviews and commentaries from well-known figures in the field. An Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research.