Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Department of Medicine, Stanford University Medical Center, Palo Alto, CA 94305, USA.
Genes (Basel). 2020 Oct 26;11(11):1261. doi: 10.3390/genes11111261.
Digital health (DH) is the use of digital technologies and data analytics to understand health-related behaviors and enhance personalized clinical care. DH is increasingly being used in clinical trials, and an important field that could potentially benefit from incorporating DH into trial design is pharmacogenetics. Prospective pharmacogenetic trials typically compare a standard care arm to a pharmacogenetic-guided therapeutic arm. These trials often require large sample sizes, are challenging to recruit into, lack patient diversity, and can have complicated workflows to deliver therapeutic interventions to both investigators and patients. Importantly, the use of DH technologies could mitigate these challenges and improve pharmacogenetic trial design and operation. Some DH use cases include (1) automatic electronic health record-based patient screening and recruitment; (2) interactive websites for participant engagement; (3) home- and tele-health visits for patient convenience (e.g., samples for lab tests, physical exams, medication administration); (4) healthcare apps to collect patient-reported outcomes, adverse events and concomitant medications, and to deliver therapeutic information to patients; and (5) wearable devices to collect vital signs, electrocardiograms, sleep quality, and other discrete clinical variables. Given that pharmacogenetic trials are inherently challenging to conduct, future pharmacogenetic utility studies should consider implementing DH technologies and trial methodologies into their design and operation.
数字健康（DH）是利用数字技术和数据分析来了解与健康相关的行为，并增强个性化的临床护理。DH 在临床试验中越来越多地被使用，一个可能受益于将 DH 纳入试验设计的重要领域是药物遗传学。前瞻性药物遗传学试验通常将标准护理臂与药物遗传学指导的治疗臂进行比较。这些试验通常需要大样本量，招募困难，缺乏患者多样性，并且可能有复杂的工作流程来为研究者和患者提供治疗干预。重要的是，DH 技术的使用可以减轻这些挑战，并改善药物遗传学试验的设计和操作。一些 DH 用例包括：（1）基于自动电子健康记录的患者筛选和招募；（2）用于参与者参与的互动网站；（3）为患者提供便利的家庭和远程医疗访问（例如，用于实验室测试、体检、药物管理的样本）；（4）医疗保健应用程序，用于收集患者报告的结果、不良事件和伴随药物，并向患者提供治疗信息；（5）可穿戴设备，用于收集生命体征、心电图、睡眠质量和其他离散的临床变量。鉴于药物遗传学试验的进行具有固有挑战性，未来的药物遗传学效用研究应考虑将 DH 技术和试验方法纳入其设计和操作中。
