Research Division, Federal Institute for Drugs and Medical Devices (BfArM), Kurt-Georg-Kiesinger-Allee 3, 53175, Bonn, North Rhine-Westphalia, Germany.
Mol Diagn Ther. 2022 Jan;26(1):89-103. doi: 10.1007/s40291-021-00567-x. Epub 2021 Dec 14.
On the basis of scientific evidence, information on the option, recommendation or requirement to test for pharmacogenetic or pharmacogenomic biomarkers is incorporated in the Summary of Product Characteristics of an increasing number of drugs in Europe. A screening of the Genetic Testing Registry (GTR) showed that a variety of molecular genetic testing methods is currently offered worldwide in testing services with regard to according drugs and biomarkers. Thereby, among the methodology indicated in the screened GTR category 'Molecular Genetics', next-generation sequencing is applied for identification of the largest proportion of evaluated biomarkers that are relevant for therapeutic management of centrally approved drugs in Europe. However, sufficient information on regulatory clearances, clinical utility, analytical and clinical validity of applied methods is rarely provided.
基于科学证据，越来越多的欧洲药物的产品特性摘要中纳入了关于检测药物基因组学或药物遗传学生物标志物的选择、建议或要求的信息。对遗传检测登记处（GTR）的筛查显示，目前在全球范围内的检测服务中，针对相应的药物和生物标志物，提供了各种分子遗传检测方法。在 GTR 类别“分子遗传学”中筛选出的方法中，下一代测序技术用于鉴定与欧洲批准的中枢药物治疗管理相关的大多数有评估价值的生物标志物，这是应用最多的方法。然而，很少有关于应用方法的监管批准、临床实用性、分析和临床有效性的充分信息。
