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Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers.

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Affiliations

  • 1. Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.
      Authors
    • Mars N 1
    • Koskela JT 1
    • Ripatti P 1
    • Kiiskinen TTJ 1
    • Havulinna AS 1, 4
    • Ahola-Olli A 1
    • Kurki M 1, 3
    • Karjalainen J 1
    • Palta P 1
    • Daly M 1
    • Palotie A 1
    • Widén E 1
    • Ripatti S 1, 2
    (13 authors)
  • 2. Department of Public Health, Clinicum, University of Helsinki, Helsinki, Finland.
      Authors
    • Lindbohm JV 2
    • Ripatti S 1, 2
    (2 authors)
  • 3. Program in Medical and Population Genetics and Genetic Analysis Platform, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
      Authors
    • Kurki M 1, 3
    • Neale BM 3
    (2 authors)
  • 4. Finnish Institute for Health and Welfare, Helsinki, Finland.
      Authors
    • Havulinna AS 1, 4
    • Salomaa V 4
    (2 authors)

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Nature Medicine, 07 Apr 2020, 26(4):549-557
https://doi.org/10.1038/s41591-020-0800-0 PMID: 32273609 

Abstract 

Polygenic risk scores (PRSs) have shown promise in predicting susceptibility to common diseases1-3. We estimated their added value in clinical risk prediction of five common diseases, using large-scale biobank data (FinnGen; n = 135,300) and the FINRISK study with clinical risk factors to test genome-wide PRSs for coronary heart disease, type 2 diabetes, atrial fibrillation, breast cancer and prostate cancer. We evaluated the lifetime risk at different PRS levels, and the impact on disease onset and on prediction together with clinical risk scores. Compared to having an average PRS, having a high PRS contributed 21% to 38% higher lifetime risk, and 4 to 9 years earlier disease onset. PRSs improved model discrimination over age and sex in type 2 diabetes, atrial fibrillation, breast cancer and prostate cancer, and over clinical risk in type 2 diabetes, breast cancer and prostate cancer. In all diseases, PRSs improved reclassification over clinical thresholds, with the largest net reclassification improvements for early-onset coronary heart disease, atrial fibrillation and prostate cancer. This study provides evidence for the additional value of PRSs in clinical disease prediction. The practical applications of polygenic risk information for stratified screening or for guiding lifestyle and medical interventions in the clinical setting remain to be defined in further studies.

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Read article at publisher's site: https://doi.org/10.1038/s41591-020-0800-0

Read article for free, from open access legal sources, via Unpaywall: https://helda.helsinki.fi/bitstream/10138/319904/1/NMED.pdfUnpaywall

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