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Genomisk medicin som forbrugervare
Engelsk titel: Genomic medicine as consumer goods Läs online Författare: Folkersen, Lasse ; Werge, Thomas Språk: Dan Antal referenser: 16 Dokumenttyp: Översikt UI-nummer: 19050338

Tidskrift

Ugeskrift for Laeger 2019;181(7A)709-12 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

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.