Jansen Marleen E, Rigter T, Rodenburg W, Fleur T M C, Houwink E J F, Weda M, Cornel Martina C
Section Community Genetics, Department of Clinical Genetics and Amsterdam Public Health Research Institute, VU University Medical CenterAmsterdam, Netherlands.
Centre for Health Protection, National Institute for Public Health and the EnvironmentBilthoven, Netherlands.
Front Pharmacol. 2017 Aug 23;8:555. doi: 10.3389/fphar.2017.00555. eCollection 2017.
Advances from pharmacogenetics (PGx) have not been implemented into health care to the expected extent. One gap that will be addressed in this study is a lack of reporting on clinical validity and clinical utility of PGx-tests. A systematic review of current reporting in scientific literature was conducted on publications addressing PGx in the context of statins and muscle toxicity. Eighty-nine publications were included and information was selected on reported measures of effect, arguments, and accompanying conclusions. Most authors report associations to quantify the relationship between a genetic variation an outcome, such as adverse drug responses. Conclusions on the implementation of a PGx-test are generally based on these associations, without explicit mention of other measures relevant to evaluate the test's clinical validity and clinical utility. To gain insight in the clinical impact and select useful tests, additional outcomes are needed to estimate the clinical validity and utility, such as cost-effectiveness.
药物遗传学（PGx）的进展尚未在医疗保健中得到预期程度的应用。本研究将解决的一个差距是缺乏关于PGx检测的临床有效性和临床实用性的报告。针对他汀类药物与肌肉毒性背景下的PGx相关出版物，对科学文献中的当前报告进行了系统综述。纳入了89篇出版物，并选取了有关报告的效应测量、论据及相关结论的信息。大多数作者报告了关联情况，以量化基因变异与诸如药物不良反应等结果之间的关系。关于实施PGx检测的结论通常基于这些关联，而未明确提及与评估检测的临床有效性和临床实用性相关的其他指标。为了深入了解临床影响并选择有用的检测方法，需要额外的结果来评估临床有效性和实用性，如成本效益。
