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Thorkild Terkelsen1, Thomas Folkmann Hansen2, Morten Krogh Herlin1

  • 1Klinisk Genetisk Afdeling, Aarhus Universitetshospital.

Ugeskrift for Laeger
|October 24, 2023
PubMed
Summary
This summary is machine-generated.

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Polygenic risk scores (PRS) help identify individuals at risk for common diseases, complementing genetic testing for diagnosis and prevention. While facing challenges like ancestry application and interpretation, PRS are poised for significant roles in personalized medicine.

Area of Science:

  • Genetics
  • Personalized Medicine
  • Disease Prevention

Background:

  • Polygenic risk scores (PRS) are emerging tools for identifying individuals susceptible to common diseases.
  • These scores complement traditional genetic testing, aiding in diagnosis and guiding preventative strategies.
  • The review examines the strengths and limitations of PRS in clinical applications.

Approach:

  • A comprehensive review of current literature on polygenic risk scores.
  • Analysis of PRS utility in disease diagnosis, primary prevention, and secondary prevention.
  • Discussion of the comparative risk assessment of high PRS versus monogenic conditions.

Key Points:

  • High PRS can indicate disease risks comparable to monogenic predispositions.
  • Limitations include potential for misinterpretation and challenges in cross-ancestry application.

Related Experiment Videos

  • PRS utility is limited for traits with low heritability.

    • Conclusions:

    • Despite limitations, PRS are expected to be integral to the future of personalized medicine.
    • Further research and careful implementation are needed to overcome PRS challenges.
    • PRS represent a significant advancement in genetic testing and risk stratification.