npj Genomic Medicine (Mar 2021)

Will better evidence on clinical utility bring about greater use of (genetic) tests?

  • Chris Hyde

DOI
https://doi.org/10.1038/s41525-021-00187-8
Journal volume & issue
Vol. 6, no. 1
pp. 1 – 2

Abstract

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Greater clarity on the nature of clinical utility is desirable. Of itself it may not bring about greater use of tests, including WGS (whole-genome sequencing), not least because clinical utility studies when performed may not confirm predicted changes in patient outcome. The notion that single “pivotal” clinical utility studies will achieve uptake needs to be questioned and that the evidence base for tests is likely to rely on patchworks of imperfect evidence embraced.