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

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Journal article › Research › peer-review

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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.

Translated title of the contribution	The clinical use of polygenic risk scores
Original language	Danish
Article number	V04230258
Journal	Ugeskrift for Læger
Volume	185
ISSN	0041-5782
Publication status	Published - 25 Sept 2023

Bibliographical note

Published under Open Access CC-BY-NC-BD 4.0. https://creativecommons.org/licenses/by-nc-nd/4.0/.

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Terkelsen et al. (2023). Klinisk anvendelse af polygene risikoscorerFinal published version, 0.99 MBLicence: CC BY-NC-ND 4.0

https://ugeskriftet.dk/videnskab/klinisk-anvendelse-af-polygene-risikoscorerLicence: CC BY-NC-ND 4.0

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Cite this

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title = "Klinisk anvendelse af polygene risikoscorer",

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.",

keywords = "Humans, Risk Factors, Genetic Testing, Medicine, Secondary Prevention, Genetic Predisposition to Disease, Genome-Wide Association Study",

author = "Thorkild Terkelsen and Hansen, {Thomas Folkmann} and Herlin, {Morten Krogh} and Malene Djursby and Mette Nyegaard and Pedersen, {Inge S{\o}kilde} and Lildballe, {Dorte Launholt} and F{\ae}rgeman, {S{\o}ren Lejsted} and Lone Sunde and Hauberg, {Mads Engel}",

note = "Published under Open Access CC-BY-NC-BD 4.0. https://creativecommons.org/licenses/by-nc-nd/4.0/.",

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day = "25",

language = "Dansk",

volume = "185",

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TY - JOUR

T1 - Klinisk anvendelse af polygene risikoscorer

AU - Terkelsen, Thorkild

AU - Hansen, Thomas Folkmann

AU - Herlin, Morten Krogh

AU - Djursby, Malene

AU - Nyegaard, Mette

AU - Pedersen, Inge Søkilde

AU - Lildballe, Dorte Launholt

AU - Færgeman, Søren Lejsted

AU - Sunde, Lone

AU - Hauberg, Mads Engel

N1 - Published under Open Access CC-BY-NC-BD 4.0. https://creativecommons.org/licenses/by-nc-nd/4.0/.

PY - 2023/9/25

Y1 - 2023/9/25

N2 - 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.

AB - 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.

KW - Humans

KW - Risk Factors

KW - Genetic Testing

KW - Medicine

KW - Secondary Prevention

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

M3 - Tidsskriftartikel

C2 - 37873989

SN - 0041-5782

VL - 185

JO - Ugeskrift for Læger

JF - Ugeskrift for Læger

M1 - V04230258

ER -

Klinisk anvendelse af polygene risikoscorer

Abstract

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