Pharmacogenetic/pharmacogenomic (PGx) testing is currently available for a wide range of health problems including cardiovascular disease, cancer, diabetes, autoimmune disorders, mental health disorders and infectious diseases. PGx contributes important information to the field of precision medicine by clarifying appropriate treatments for specific disease subtypes. Tangible benefits to patients including improved outcomes and reduced total health care costs have been observed. However, PGx-guided therapy faces many barriers to full integration into clinical practice and acceptance by stakeholders, whether practitioner, patient or payer. Each stakeholder has a unique perspective on the role of PGx testing, although all are similarly challenged with demonstrating or appraising its cost-to-benefit value. Coverage by insurers is a critical step in achieving widespread adoption of PGx testing. The acceleration of adoption of precision medicine in general and for PGx testing in particular will be determined by how quickly robust evidence can be accumulated that shows a return on investment for payers in terms of real dollars, for clinicians in terms of patient clinical responses, and for patients in terms of economic, health and quality of life outcomes. Trends in PGx testing utilization and uptake by payers in real-world practice are discussed; the role of pharmacoeconomics in assessing cost-effectiveness is highlighted using a case study in psychiatric care, and several issues that will affect adoption of PGx testing in the United States (US) over the next few years are reviewed.

中文翻译：

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药物基因组学和药物遗传学指导疗法作为精密医学的工具：现状和影响利益相关者接受的因素。

药物遗传学/药物基因组学（PGx）测试目前可用于解决各种健康问题，包括心血管疾病，癌症，糖尿病，自身免疫性疾病，精神健康疾病和传染性疾病。PGx通过阐明针对特定疾病亚型的适当治疗方法，为精密医学领域贡献了重要信息。已经观察到给患者带来切实的好处，包括改善结局和降低总医疗费用。但是，PGx指导的治疗面临许多障碍，无法完全整合到临床实践中，并受到利益相关者（从业者，患者或付款人）的接受。每个利益相关者对于PGx测试的作用都有独特的见解，尽管在演示或评估其成本效益价值时，所有人都面临类似的挑战。保险公司的承保范围是实现PGx测试被广泛采用的关键一步。一般而言，尤其是用于PGx测试的精确医学的加速采用，取决于能否迅速收集可靠的证据，这些证据表明付款人的实际美元投资回报率，临床医生对患者临床反应的回报率以及在经济，健康和生活质量方面为患者提供服务。讨论了实际操作中PGx测试使用率和付款人采用率的趋势；案例研究强调了药物经济学在评估成本效益中的作用，并综述了在未来几年内将影响美国（美国）采用PGx检测的几个问题。一般而言，尤其是用于PGx测试的精确医学的加速采用，取决于能否迅速收集可靠的证据，这些证据表明付款人的实际美元投资回报率，临床医生对患者临床反应的回报率以及为患者提供经济，健康和生活质量方面的帮助。讨论了实际操作中PGx测试使用率和付款人采用率的趋势；案例研究强调了药物经济学在评估成本效益中的作用，并综述了在未来几年内将影响美国（美国）采用PGx检测的几个问题。一般而言，尤其是用于PGx测试的精确医学的加速采用，取决于能否迅速收集可靠的证据，这些证据表明付款人的实际美元投资回报率，临床医生对患者临床反应的回报率以及在经济，健康和生活质量方面为患者提供服务。讨论了实际操作中PGx测试使用率和付款人采用率的趋势；案例研究强调了药物经济学在评估成本效益中的作用，并回顾了在未来几年内将影响美国（美国）采用PGx检测的几个问题。