Measuring clinical utility in the context of genetic testing: a scoping review

Abstract

Standardized approaches to measuring clinical utility will enable more robust evaluations of genetic tests. To characterize how clinical utility has been measured, this scoping review examined outcomes used to operationalize this concept in the context of genetic testing, spanning relevant literature (2015-2017). The search strategy and analysis were guided by the Fryback and Thornbury hierarchical model of efficacy (FT Model). Through searches in Ovid MEDLINE, EMBASE and Web of Science, 194 publications were identified for inclusion. Two coders reviewed titles, abstracts, and full texts to determine eligibility. Results were analyzed using thematic and frequency analyses. This review generated a catalog of outcomes mapped to the efficacy domains of the FT Model. The degree of representation observed in each domain varied by the clinical purpose and clinical indication of genetic testing. Diagnostic accuracy (68%), technical (28.4%), and patient outcome (28.4%) efficacy studies were represented at the highest rate. Findings suggest that the FT Model is suitable for the genetics context however domain refinements may be warranted. More diverse clinical settings, robust study designs, and novel strategies for measuring clinical utility are needed.

Fig. 1. Systematic reviews and meta-analysis (PRISMA) flow diagram.

A summary of the scoping review search results are shown, 194 studies met the inclusion criteria and were included in the review.

Fig. 2. Outcome measures by FT model efficacy domain.

To examine whether the FT model efficacy domains represented in the reviewed literature varied by test purpose or clinical context, study outcomes were organized into thematic groups. a Shows study outcomes organized by efficacy domain and stated test purpose. b Shows study outcomes organized by efficacy domain and the clinical condition under investigation.