Despite monumental advances in genomics, relatively few health care provider organizations in the United States offer personalized or precision medicine as part of the routine clinical workflow. The gaps between research and applied genomic medicine may be a result of a cultural gap across various stakeholders representing scientists, clinicians, patients, policy makers, and third party payers. Scientists are trained to assess the health care value of genomics by either quantifying population-scale effects, or through the narrow lens of clinical trials where the standard of care is compared with the predictive power of a single or handful of genetic variants. While these metrics are an essential first step in assessing and documenting the clinical utility of genomics, they are rarely followed up with other assessments of health care value that are critical to stakeholders who use different measures to define value. The limited value assessment in both the research and implementation science of precision medicine is likely due to necessary logistical constraints of these teams; engaging bioethicists, health care economists, and individual patient belief systems is incredibly daunting for geneticists and informaticians conducting research. In this narrative review, we concisely describe several definitions of value through various stakeholder viewpoints. We highlight the existing gaps that prevent clinical translation of scientific findings generally as well as more specifically using two present-day, extreme scenarios: (1) genetically guided warfarin dosing representing a handful of genetic markers and more than 10 years of basic and translational research, and (2) next-generation sequencing representing genome-dense data lacking substantial evidence for implementation. These contemporary scenarios highlight the need for various stakeholders to broadly adopt frameworks designed to define and collect multiple value measures across different disciplines to ultimately impact more universal acceptance of and reimbursement for genomic medicine.

中文翻译：

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弥合个性化医疗价值评估的差距：对利益相关者和科学学科的结果指标需求的审查


尽管基因组学取得了巨大进步，但美国相对较少的医疗保健提供者组织提供个性化或精准医疗作为常规临床工作流程的一部分。研究和应用基因组医学之间的差距可能是由代表科学家、临床医生、患者、政策制定者和第三方付款人的各个利益相关者之间的文化差距造成的。科学家们接受过培训，通过量化人口规模效应或通过临床试验的狭隘视角来评估基因组学的医疗保健价值，其中将护理标准与单个或少数遗传变异的预测能力进行比较。虽然这些指标是评估和记录基因组学临床效用的重要第一步，但很少会跟进其他医疗保健价值评估，而这些评估对于使用不同衡量标准来定义价值的利益相关者至关重要。精准医学的研究和实施科学的价值评估有限可能是由于这些团队必要的后勤限制；对于进行研究的遗传学家和信息学家来说，让生物伦理学家、医疗保健经济学家和个体患者信仰体系参与进来是极其艰巨的。在这篇叙述性评论中，我们通过各种利益相关者的观点简洁地描述了价值的几种定义。我们强调了阻碍科学发现临床转化的现有差距，更具体地使用当今的两种极端情况：(1) 代表少数遗传标记和超过 10 年的基础和转化研究的基因引导华法林剂量，（2）代表基因组密集数据的下一代测序缺乏实质性的实施证据。 这些当代情景凸显了各利益相关者需要广泛采用旨在定义和收集跨不同学科的多种价值衡量标准的框架，以最终影响基因组医学的更普遍接受和报销。