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The Application of Genetic Risk Scores in Rheumatic Diseases: A Perspective.

Lotta M Vaskimo1, Georgy Gomon1, Najib Naamane2

  • 1Department of Rheumatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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Summary

Genetic risk scores (GRSs) offer a promising approach to applying genetic findings in rheumatic diseases. This review highlights their use in prediction, understanding disease links, and future potential, despite current data limitations.

Keywords:
clinical applicabilitygenetic risk score (GRS)geneticsperspectiverheumatic diseases

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Area of Science:

  • Genetics and Rheumatology
  • Bioinformatics
  • Clinical Translation

Background:

  • Modest genetic effect sizes challenge clinical utility in rheumatic diseases.
  • Genetic risk scores (GRSs) are emerging as a tool to bridge this gap.
  • GRSs aggregate genetic variants to improve predictive power for complex diseases.

Approach:

  • This review synthesizes recent literature on GRS applications in rheumatic diseases.
  • It categorizes GRS uses into six key areas: prediction, genetic commonalities, disease differentiation, gene-environment interplay, heritability, and causal inference.
  • Identified limitations and future research opportunities are discussed.

Key Points:

  • GRSs are utilized for disease prediction, identifying genetic links between conditions, and differentiating diseases.
  • They also explore gene-environment interactions, assess heritability and transferability, and detect causal relationships.
  • Key challenges include a lack of diverse genetic data and the need for real-world validation.

Conclusions:

  • GRSs show significant promise for advancing precision medicine in rheumatology.
  • Addressing data diversity and validation gaps is crucial for clinical implementation.
  • Continued research on GRSs offers a hopeful outlook for their future applications.