4.5 Article

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

Journal

NPJ GENOMIC MEDICINE
Volume 6, Issue 1, Pages -

Publisher

NATURE RESEARCH
DOI: 10.1038/s41525-021-00187-8

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Greater clarity on the nature of clinical utility is desired, but it may not directly lead to increased use of tests like whole-genome sequencing. Single pivotal clinical utility studies may not necessarily achieve uptake, and the evidence base for tests is often a patchwork of imperfect evidence.
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.

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