dna ancestry Archives - Gen9 Genetics
Standardized approaches to measuring clinical utility will allow for more robust evaluations of genetic testing. To characterize how clinical utility has been measured, this scoping review examined the results used to operationalize this concept in the context of genetic testing, encompassing the relevant literature (2015-2017). The search strategy and analysis were guided by the hierarchical efficacy model of Fryback and Thornbury (FT model). Through searches of Ovid MEDLINE, EMBASE, and Web of Science, 194 publications were identified for inclusion. Two coders reviewed titles, abstracts, and full texts to determine eligibility. The results were analyzed using thematic and frequency analyzes. This review generated a catalog of results assigned to the efficacy domains of the FT model. The degree of representation observed in each domain varied according to the clinical purpose and the clinical indication for genetic testing. Studies of diagnostic efficacy (68%), technique (28.4%) and patient outcome (28.4%) were represented with the highest rate. The findings suggest that the FT model is suitable for the genetic context, however domain refinements can be justified. More diverse clinical settings, robust study designs, and novel strategies are needed to measure clinical utility.