Genomic medicine as consumer goods

Lasse Folkersen, Thomas Werge

Abstract

In this review, current trends in personal genetics are covered. The main differences between the "classic" rare high-effect mutations vs the combined effects of thousands of common, low-risk variants are outlined, and then we provide examples of possible clinical use of microarray-based genetic measurements of rare high-risk mutations, and diagnosis-specific polygenic risk scores. The aim of this review is to discuss the possible clinical relevance vs the hyped and potentially harmful overinterpretations of direct-to-consumer genetics services.

OriginalsprogEngelsk
TidsskriftUgeskrift for Laeger
Vol/bind181
Udgave nummer7A
ISSN0041-5782
StatusUdgivet - 1 apr. 2019

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