Prior to integration into clinical care, a novel medical innovation is typically assessed in terms of its balance of benefits and risks, often referred to as utility. Members of multidisciplinary research teams may conceptualize and assess utility in different ways, which has implications within the translational genomics community and for the evidence base upon which clinical guidelines groups and healthcare payers make decisions. Ambiguity in the conceptualization of utility in translational genomics research can lead to communication challenges within research teams and to study designs that do not meet stakeholder needs. We seek to address the ambiguity challenge by describing the conceptual understanding of utility and use of the term by scholars in the fields of philosophy, medicine, and the social sciences of decision psychology and health economics. We illustrate applications of each field’s orientation to translational genomics research by using examples from the Clinical Sequencing Evidence-Generating Research (CSER) consortium, and we provide recommendations for increasing clarity and cohesion in future research. Given that different understandings of utility will align to a greater or lesser degree with important stakeholders’ views, more precise use of the term can help researchers to better integrate multidisciplinary investigations and communicate with stakeholders.

在融入临床护理之前，通常会根据其效益和风险的平衡（通常称为效用）来评估新颖的医疗创新。多学科研究团队的成员可能会以不同的方式概念化和评估效用，这对转化基因组学界以及临床指南团体和医疗保健支付者做出决策的证据基础具有影响。转化基因组学研究中效用概念的模糊性可能会导致研究团队内部的沟通挑战，并导致研究设计无法满足利益相关者的需求。我们试图通过描述哲学、医学、决策心理学和健康经济学等社会科学领域的学者对效用的概念理解和对该术语的使用来解决模糊性挑战。我们通过使用临床测序证据生成研究 (CSER) 联盟的示例来说明每个领域在转化基因组学研究中的应用，并为提高未来研究的清晰度和凝聚力提供建议。鉴于对效用的不同理解或多或少会与重要利益相关者的观点一致，更精确地使用该术语可以帮助研究人员更好地整合多学科调查并与利益相关者进行沟通。