Scaling pharmacogenomics through NGS

Hear how Geisinger is moving from reactive to preemptive pharmacogenomic testing with targeted NGS.

One pharmacogenomic (PGx) test can inform prescribing decisions for a lifetime. Reactive, single-gene testing rarely delivers that value. In this on-demand session from the SOPHiA GENETICS NORAM Innovation Summit, Dr. Andrew Campbell, Service Director of the Molecular Diagnostics Laboratory at Geisinger shares how his team is using targeted NGS to build reusable PGx profiles as part of the 65 Forward care model.

Around 30% of commonly prescribed drugs have pharmacogenomic associations, and almost every individual carries at least one actionable PGx genotype. Yet most testing is still ordered one drug at a time, which leads to repeated specimen collection, fragmented reports, and duplicated effort for both clinicians and labs.

Dr. Campbell explains why a preemptive model changes the equation, and why targeted NGS makes it practical at health-system scale.

Key takeaways from the session

Early results: Batching DPYD with PGx testing has improved turnaround time by five days.
Broad coverage matters: In about 2% of individuals, Geisinger identified deleterious DPYD alleles not captured in joint consensus recommendations.
Built to scale: One shared workflow means shared setup, sequencing, quality review, and technologist time.

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