The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders

IF 6.1 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Amanda J. Berberich , Robert A. Hegele
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引用次数: 1

Abstract

The increasing affordability of and access to next-generation DNA sequencing has increased the feasibility of incorporating genetic analysis into the diagnostic pathway for dyslipidaemia. But should genetic diagnosis be used routinely? DNA testing for any medical condition has potential benefits and pitfalls. For dyslipidaemias, the overall balance of advantages versus drawbacks differs according to the main lipid disturbance. For instance, some patients with severely elevated low-density lipoprotein cholesterol levels have a monogenic disorder, namely heterozygous familial hypercholesterolaemia. In these patients, DNA diagnosis can be definitive, in turn yielding several benefits for patient care that tend to outweigh any potential disadvantages. In contrast, hypertriglyceridaemia is almost always a polygenic condition without a discrete monogenic basis, except for ultrarare monogenic familial chylomicronaemia syndrome. Genetic testing in patients with hypertriglyceridaemia is therefore predominantly non-definitive and evidence for benefit is presently lacking. Here we consider advantages and limitations of genetic testing in dyslipidaemias.

遗传分析在脂质疾病诊断和治疗中的优势和缺陷
下一代DNA测序的可负担性和可获得性的提高增加了将基因分析纳入血脂异常诊断途径的可行性。但是基因诊断应该常规使用吗?任何疾病的DNA检测都有潜在的好处和陷阱。对于血脂异常,根据主要的脂质紊乱,优点与缺点的总体平衡不同。例如,一些低密度脂蛋白胆固醇水平严重升高的患者患有单基因疾病,即杂合子家族性高胆固醇血症。在这些患者中,DNA诊断可能是决定性的,这反过来又为患者护理带来了一些好处,而这些好处往往超过了任何潜在的缺点。相比之下,除了极为罕见的单基因家族性乳糜微粒综合征外,高甘油三酯血症几乎总是一种没有离散单基因基础的多基因疾病。因此,对高甘油三酯血症患者进行基因检测主要是不确定的,目前缺乏有益的证据。在这里,我们考虑基因检测在血脂异常中的优势和局限性。
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来源期刊
CiteScore
11.90
自引率
0.00%
发文量
77
审稿时长
6-12 weeks
期刊介绍: Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management. Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.
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