Uploaded October 2025 | Updated September 2026, 5 hours ago
How do you translate a powerful research technology into a robust, routine clinical tool? At PacBio PRISM 2025, Stuart Scott, PhD, of Stanford University – Stanford Health Care, details a 10-year journey of implementing PacBio HiFi sequencing in a clinical genomics laboratory, moving from targeted applications to comprehensive genomic testing.
Discover the evolution of this work, from early successes using amplicon sequencing to resolve complex and clinically critical pharmacogenomic genes like `CYP2D6` and `NUDT15`, to the rigorous analytical validation of HiFi whole-genome sequencing for investigating undiagnosed diseases. Dr. Scott shares performance data demonstrating the high accuracy, reproducibility, and sensitivity of HiFi reads, even in challenging genomic regions and from saliva samples.
The presentation culminates in the launch of Stanford's Spira program, a highly innovative clinical pharmacogenomics service. Learn how his team built an end-to-end solution using a PacBio and Twist enrichment panel, creating a seamless workflow from saliva sample to actionable results integrated directly into the electronic medical record system to help guide prescribing decisions.
00:00 Introduction
00:24 A 10-year journey with long-read sequencing
05:24 The power of amplicons for pharmacogenomics
15:14 Validating HiFi whole-genome sequencing for clinical use
25:50 Building a clinical PGx program at Stanford
33:14 The Spira program: Validating the PGx enrichment panel
40:01 Summary and key takeaways
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
How do you translate a powerful research technology into a robust, routine clinical tool? At PacBio PRISM 2025, Stuart Scott, PhD, of Stanford University – Stanford Health Care, details a 10-year journey of implementing PacBio HiFi sequencing in a clinical genomics laboratory, moving from targeted applications to comprehensive genomic testing.
Discover the evolution of this work, from early successes using amplicon sequencing to resolve complex and clinically critical pharmacogenomic genes like `CYP2D6` and `NUDT15`, to the rigorous analytical validation of HiFi whole-genome sequencing for investigating undiagnosed diseases. Dr. Scott shares performance data demonstrating the high accuracy, reproducibility, and sensitivity of HiFi reads, even in challenging genomic regions and from saliva samples.
The presentation culminates in the launch of Stanford's Spira program, a highly innovative clinical pharmacogenomics service. Learn how his team built an end-to-end solution using a PacBio and Twist enrichment panel, creating a seamless workflow from saliva sample to actionable results integrated directly into the electronic medical record system to help guide prescribing decisions.
00:00 Introduction
00:24 A 10-year journey with long-read sequencing
05:24 The power of amplicons for pharmacogenomics
15:14 Validating HiFi whole-genome sequencing for clinical use
25:50 Building a clinical PGx program at Stanford
33:14 The Spira program: Validating the PGx enrichment panel
40:01 Summary and key takeaways
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
