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Utilization of polygenic risk scores in drug development protocols
Michelle A Pressly1, Robert Schuck1, Padmaja Mummaneni1
1Division of Translational and Precision Medicine, Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food & Drug Administration, Silver Spring, MD, USA.
Pharmacogenomics
|April 9, 2025
Summary
Polygenic risk scores (PRSs) increasingly guide clinical trials in drug development, particularly in neurology and oncology. Their use, though less common, supports early-phase trials and necessitates further research.
Area of Science:
- Pharmacogenomics
- Clinical Trial Design
- Biostatistics
Background:
- Polygenic risk scores (PRSs) leverage genetic variants to assess disease risk.
- PRSs have potential applications in drug development, including clinical trial enrichment and treatment response prediction.
Purpose of the Study:
- To analyze the evolving use of PRSs in clinical trials submitted to the Food & Drug Administration (FDA).
- To identify therapeutic areas and trial phases where PRSs are most frequently applied.
Main Methods:
- Analysis of FDA submission documents to track PRS utilization over time.
- Categorization of clinical trial protocols by therapeutic area and development phase.
Main Results:
- An increasing trend in the application of PRSs for guiding clinical trials was observed.
- PRSs were predominantly used in neurology, radiology, psychiatry, and oncology.
- Most applications occurred in early-phase trials (Phase 1, 1/2, 3) for secondary or exploratory analyses.
- Approximately half of the protocols involved novel PRS development, while the other half utilized existing PRSs.
Conclusions:
- The growing application of PRSs in clinical trials highlights their emerging role in drug development.
- Further investigation is warranted to fully understand the implications and optimize the use of PRSs in clinical research.
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