Klinisk anvendelse af polygene risikoscorer

Translated title of the contribution: The clinical use of polygenic risk scores

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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review


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.

Translated title of the contributionThe clinical use of polygenic risk scores
Original languageDanish
Article numberV04230258
JournalUgeskrift for Læger
Number of pages10
Publication statusPublished - Sept 2023


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