Personalizing medicine with clinical pharmacogenetics.
Personalizing medicine with clinical pharmacogenetics.
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DOI：
10.1097/gim.0b013e318238b38c
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发表时间：
2011-12
期刊：
影响因子：
--
通讯作者：
Scott SA
中科院分区：
文献类型：
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作者：
Scott SA
在过去的30年里，临床基因检测大幅增长，因为孟德尔疾病的致病突变已经被确定，特别是部分得益于分子技术的最新进展。重要的是，采用新的测试和测试策略（例如，诊断确认、产前检测和基于人群的携带者筛查）在临床实施之前往往得到谨慎和仔细的考虑，这有助于新的基因检测的适当使用。虽然药物遗传学领域成立于20世纪50年代，但涉及个体间药物反应变异性的体质药物遗传学变体的临床试验直到最近才可用于帮助临床医生指导药物治疗，部分原因是美国食品和药物管理局介导的产品说明书修订，其中包括选定药物的药物遗传学信息。然而，尽管药物遗传学与不良结局相关，但医生对临床药物遗传学检测的接受一直很缓慢。与孟德尔疾病的检测相比，某些适应症的药物遗传学检测的阳性预测值较低，这是使用不足的原因之一。实施临床药物遗传学仍然存在许多其他障碍，包括临床实用性，专业教育以及监管和报销问题等。这篇综述介绍了目前实施临床药物遗传学检测的一些机遇和挑战。
Clinical genetic testing has grown substantially over the past 30 years as the causative mutations for Mendelian diseases have been identified, particularly aided in part by the recent advances in molecular-based technologies. Importantly, the adoption of new tests and testing strategies (e.g., diagnostic confirmation, prenatal testing, and population-based carrier screening) has often been met with caution and careful consideration before clinical implementation, which facilitates the appropriate use of new genetic tests. Although the field of pharmacogenetics was established in the 1950s, clinical testing for constitutional pharmacogenetic variants implicated in interindividual drug response variability has only recently become available to help clinicians guide pharmacotherapy, in part due to US Food and Drug Administration-mediated product insert revisions that include pharmacogenetic information for selected drugs. However, despite pharmacogenetic associations with adverse outcomes, physician uptake of clinical pharmacogenetic testing has been slow. Compared with testing for Mendelian diseases, pharmacogenetic testing for certain indications can have a lower positive predictive value, which is one reason for underutilization. A number of other barriers remain with implementing clinical pharmacogenetics, including clinical utility, professional education, and regulatory and reimbursement issues, among others. This review presents some of the current opportunities and challenges with implementing clinical pharmacogenetic testing.