Conceptualization of utility in translational clinical genomics research

Hadley Stevens Smith*, Kyle B. Brothers, Sara J. Knight, Sara L. Ackerman, Christine Rini, David L. Veenstra, Amy L. McGuire, Benjamin S. Wilfond, Janet Malek

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2027-2036
Number of pages10
JournalAmerican journal of human genetics
Issue number11
StatePublished - Nov 4 2021

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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