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November 20, 2025Journal of Community GeneticsOpen Access

Polygenic risk scores in routine genetic diagnostics: what lies ahead?

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Authors

PLPeter LaufferWWW. van WeeldenMHM. M. van Haelst

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Overview

Discussion reveals polygenic risk scores enhance genetic diagnostics' efficiency, suggesting integration with traditional methods.

Key Points

  • Evaluate the potential integration of polygenic risk scores in routine genetic diagnostics.
  • Discussion of scenarios for PRS integration in diagnostic workflows.
  • Assessment of PRS as a tool for stratifying patients for rare variant testing.
  • Evaluation of PRS application in conjunction with whole-genome sequencing and clinical characteristics.
  • Polygenic risk scores show potential to improve diagnostic efficiency for complex genetic conditions.
  • PRS can be utilized parallel to rare variant testing to capture a broader genetic risk profile.
  • Several challenges remain in defining risk thresholds and ensuring equal predictive accuracy across different ancestries.

Cite This Study

Lauffer et al. (2025) studied this question.

synapsesocial.com/papers/6924f07ac0ce034ddc34fe9chttps://doi.org/10.1007/s12687-025-00835-x
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1SMART-Topic: Polygenic Risk Score (PRS): Development, Interpretation and Utility2025
  2. 2Polygenic Risk Scores in Cardiovascular Prevention: Clinical Promise, Implementation Challenges, and Genomic Risk Stewardship2026
  3. 3A review of methods and software for polygenic risk score analysis2025 · 5 citations
  4. 4Polygenic risk scores for cardiovascular disease: clinical utility and limitations2026
  5. 5Optimization of Multi-Ancestry Polygenic Risk Score Disease Prediction Models2024 · 1 citations