我们如何解决基于多基因评分的测试潜在临床效用的不确定性？

IF 1.7 4区医学 Q3 PHARMACOLOGY & PHARMACY

Personalized medicine Pub Date : 2022-03-15 DOI:10.2217/pme-2021-0148

S. Moorthie, A. Hall, Chantal Babb de Villiers, Joanna Janus, Tanya Brigden, Laura Blackburn, M. Kroese

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引用次数: 3

摘要

随着与疾病相关的常见低外显率变异被发现，人们继续试图利用这一知识来改善医疗保健。多基因评分已经发展成为一种机制，通过这种机制，常见变异的知识可以用来研究遗传对疾病风险的影响。它们作为一种生物标志物，提供对特定疾病的遗传倾向性的估计。关于多基因评分是否是一种有用的生物标志物，以及它们是否适合用于临床和公共卫生实践的讨论仍在继续。在本文中，我们调查了在临床和公共卫生实践中使用的多基因评分测试的临床效用的描述和评估中需要解决的关键挑战。

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How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests?

As common low penetrance variants associated with diseases are uncovered, attempts continue to be made to harness this knowledge for improving healthcare. Polygenic scores have been developed as the mechanism by which knowledge of common variants can be used to investigate genetic contributions to disease risk. They serve as a biomarker to provide an estimate of the genetic liability for a particular disease. Discussion continues as to whether polygenic scores are a useful biomarker and their readiness for incorporation into clinical and public health practice. In this paper, we investigate the key challenges that need to be addressed, in the description and assessment of the clinical utility of polygenic score-based tests for use in clinical and public health practice.

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来源期刊

Personalized medicine 医学-药学

CiteScore

3.30

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Personalized Medicine (ISSN 1741-0541) translates recent genomic, genetic and proteomic advances into the clinical context. The journal provides an integrated forum for all players involved - academic and clinical researchers, pharmaceutical companies, regulatory authorities, healthcare management organizations, patient organizations and others in the healthcare community. Personalized Medicine assists these parties to shape thefuture of medicine by providing a platform for expert commentary and analysis. The journal addresses scientific, commercial and policy issues in the field of precision medicine and includes news and views, current awareness regarding new biomarkers, concise commentary and analysis, reports from the conference circuit and full review articles.