School of Allied Health Sciences, Boise State University, Boise, ID 83725, USA.
American Society of Pharmacovigilance, Houston, TX 77225, USA.
Pharmacogenomics. 2020 Jul;21(11):809-820. doi: 10.2217/pgs-2019-0193. Epub 2020 Jul 8.
In this Perspective, the authors discuss the state of pharmacogenomics testing addressing a number of advances, challenges and barriers, including legal ramifications, changes to the regulatory landscape, coverage of testing and the implications of direct-to-consumer genetic testing on the provision of care to patients. Patient attitudes toward pharmacogenomics testing and associated costs will play an increasingly important role in test acquisition and subsequent utilization in a clinical setting. Additional key steps needed include: further research trials demonstrating clinical utility and cost-effectiveness of pharmacogenetic testing, evidence review to better integrate genomic information into clinical practice guidelines in target therapeutic areas to help providers identify patients that may benefit from pharmacogenetic testing and engagement with payers to create a path to reimbursement for pharmacogenetic tests that currently have sufficient evidence of clinical utility. Increased adoption of testing by payers and improved reimbursement practices will be needed to overcome barriers, especially as the healthcare landscape continues to shift toward a system of value-based care.
在这篇观点文章中，作者讨论了药物基因组学检测的现状，涉及许多进展、挑战和障碍，包括法律后果、监管环境的变化、检测的覆盖范围以及直接面向消费者的基因检测对向患者提供护理的影响。患者对药物基因组学检测及其相关费用的态度将在检测的获取以及随后在临床环境中的利用中发挥越来越重要的作用。还需要采取其他关键步骤，包括：进一步的研究试验，证明药物基因组学检测的临床效用和成本效益；证据审查，以更好地将基因组信息纳入目标治疗领域的临床实践指南，帮助提供者识别可能受益于药物基因组学检测的患者，并与支付方合作，为目前具有充分临床效用证据的药物基因组学检测创造报销途径。需要增加支付方对检测的采用和改善报销做法，以克服障碍，特别是因为医疗保健领域继续向基于价值的护理系统转变。
