Klinisk anvendelse af polygene risikoscorer

Thorkild Terkelsen, Thomas Folkmann Hansen, Morten Krogh Herlin, Malene Djursby, Mette Nyegaard, Inge Søkilde Pedersen, Dorte Launholt Lildballe, Søren Lejsted Færgeman, Lone Sunde, Mads Engel Hauberg

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisReviewForskningpeer review

Abstract

Polygenic risk scores (PRS) identify at-risk individuals for many common diseases. A discussion of strengths and limitations is carried out in this review. PRS complement traditional genetic testing and have shown utility in establishing a proper diagnosis and guiding primary and secondary prevention. Some individuals with high PRS have risks similar to those with monogenic predisposition. Limitations include potential misinterpretations, problems with application across ancestries, and limited usefulness in low-heritability traits. Despite its shortcomings PRS are predicted to play major roles in the future of personal medicine and genetic testing.

Bidragets oversatte titelThe clinical use of polygenic risk scores
OriginalsprogDansk
ArtikelnummerV04230258
TidsskriftUgeskrift for Læger
Vol/bind185
Nummer39
Antal sider10
ISSN0041-5782
StatusUdgivet - sep. 2023

Emneord

  • Humans
  • Risk Factors
  • Genetic Testing
  • Medicine
  • Secondary Prevention
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study

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