PHG Foundation, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK.
Cambridge Public Health, University of Cambridge School of Clinical Medicine, Forvie Site, Cambridge Biomedical Campus, Cambridge, CB2 0SR, UK.
Per Med. 2022 May;19(3):263-270. doi: 10.2217/pme-2021-0148. Epub 2022 Mar 15.
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.
随着与疾病相关的常见低外显率变异的发现，人们继续努力利用这些知识来改善医疗保健。多基因评分已被开发出来，作为利用常见变异来研究疾病风险遗传贡献的机制。它们作为一种生物标志物，可以提供特定疾病遗传易感性的估计。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准备好纳入临床和公共卫生实践，仍在继续讨论。在本文中，我们研究了在描述和评估基于多基因评分的测试在临床和公共卫生实践中的临床实用性时需要解决的关键挑战。
