Chris Moore, MBA & Jayden Lee, EMBA, BCACP, PharmD
Pharmacogenomics in Rare Disease: Challenges and Opportunities. How rare is rare? In the U.S. alone, around 30 million people – roughly 1 in 10 – live with a rare disease (Rare Disease, NIH, 2025). 80% of rare diseases are genetic in origin, and the majority of these are caused by rare variants. Pharmacogenomics (PGx) empowered by next generation sequencing (NGS) serves to optimize rare disease drug development, identify actionable rare variants, and promote global collaboration.
PGx adds precision to orphan drug development. Whole-genome sequencing (WGS) and other NGS techniques uncover genes and pathways implicated in disease etiology, providing a foundation for targeted drug development (Brlek et al., 2024). Drugs developed specifically to treat rare diseases are known as orphan drugs. The 1983 Orphan Drug Act incentivized pharmaceutical companies to create such drugs through financial benefits like tax credits, exclusive marketing rights, and expedited regulatory pathways (21 CFR Part 316). PGx adds precision to orphan drug development by detecting rare variants that influence drug response.
The challenge of interpreting rare variants. Still, interpreting rare variants identified through NGS can be challenging. While thousands of rare PGx variants have been identified, most lack functional characterization, limiting their clinical utility. To address this, researchers have begun developing pharmacogene-specific algorithms and leveraging high-throughput functional assays to annotate rare variants more accurately (Zhou et al. 2022). Collaboration between clinicians, geneticists, and researchers is essential to ensure the most accurate interpretation of rare variants and inform personalized treatment strategies for patients with rare diseases.
The Children’s Rare Disease Collaborative integrates genomic data from 40 countries. Lastly, the development and repository of large-scale genomic databases through international consortia promote the sharing of valuable PGx data to harmonize rare disease treatment protocols across borders. For example, the Children’s Rare Disease Collaborative (CRDC) integrates genomic data from 40 countries, reducing diagnostic delays and enabling drug repurposing (Zhou et al., 2023). These global endeavors bridge the gap between complex genetic data and practical clinical application, fostering an environment of collaborative advancement towards more effective rare disease management (Brlek et al., 2024).
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