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Updated: Jul 26, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in

Niall J Lennon1, Leah C Kottyan2, Christopher Kachulis1

  • 1Broad Institute of MIT and Harvard.

Medrxiv : the Preprint Server for Health Sciences
|June 19, 2023
PubMed

Insights

Polygenic risk scores (PRS) show promise for clinical use, but performance varies across diverse populations. The eMERGE Network is implementing PRS for 10 conditions in 25,000 diverse individuals to ensure equitable health.

Area of Science:

  • Genomics
  • Clinical Medicine
  • Health Disparities

Background:

  • Polygenic risk scores (PRS) demonstrate increasing predictive power, suggesting clinical utility.
  • Disparities in PRS performance across diverse populations risk worsening health inequities.
  • The National Human Genome Research Institute (NHGRI)-funded Electronic Medical Records and Genomics (eMERGE) Network is a key initiative.

Conclusions:

  • The eMERGE Network's experience provides a foundational framework for implementing PRS in diverse clinical settings.
  • Addressing PRS performance disparities is crucial for equitable healthcare.
  • The developed infrastructure supports the scalable and compliant clinical integration of PRS.

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