Uploaded September 2026 | Updated September 2026, 2 hours ago
Stuart Scott discusses Stanford's long-read HiFi sequencing work, from PGx phasing to 200+ SPIRA orders.
In this PRISM 2026 presentation, Scott introduces Stanford Medicine Clinical Genomics Laboratory infrastructure, including secure clinical-cloud workflows and CAP/CLIA requirements, then follows amplicon, genome sequencing, and pharmacogenomics examples. The deepest focus is SPIRA, Stanford Pharmacogenomics Implementation and Reporting Architecture, and the practical questions around interpretation, provider support, preauthorization, and scale.
*Key takeaways*
- Stanford describes long-read HiFi work alongside laboratory infrastructure, including secure cloud computation and CAP/CLIA requirements.
- Long-read phasing changed an NUDT15 example from intermediate to poor metabolizer in Scott's pharmacogenomics discussion.
- Scott summarizes Stanford WGS benchmarking as above 99.9% recall and precision in non-difficult regions and above 99% in difficult regions.
- SPIRA combines a HiFi PGx panel with PharmCAT, StarPhase, pharmacist support, and provider education as Stanford works through clinical PGx implementation.
- Scott cites a 12-gene pharmacogenomic panel trial showing a 30% reduction in adverse drug reactions, then discusses Stanford's 200+ SPIRA orders and scale-up questions around Revio.
*Featured speakers*
- Stuart A. Scott, PhD, FACMG (Stanford Medicine Clinical Genomics Laboratory)
*Chapters*
00:00 Meet Stuart Scott and Stanford Clinical Genomics Laboratory
00:33 Talk roadmap: amplicon sequencing, genome sequencing, and PGx
01:16 Clinical lab infrastructure, secure cloud, and CAP/CLIA requirements
03:49 Stanford's long-read HiFi PGx panel launch
04:17 Amplicon sequencing context and early long-read applications
06:34 NUDT15 phasing and phenotype interpretation
08:15 Long-read WGS work at Stanford and GREGoR context
09:05 Genome in a Bottle benchmarking strategy
09:37 WGS recall and precision in difficult and non-difficult regions
10:45 CAP validation strategy for long-read genome sequencing
11:33 CNV, SV, repeat expansion, and methylation validation work
12:14 SPIRA and the case for clinical pharmacogenomics
14:01 Trial evidence and economic-value arguments for PGx
15:16 HiFi PGx panel design with PacBio and Twist
16:35 Translating PGx sequencing with PharmCAT and StarPhase
17:34 SPIRA production notes, orders, pharmacist support, and education
18:45 Scale-up questions and future Revio discussion
19:09 Closing
*Resources*
- HiFi sequencing technology: pacb.com/technology/hifi-sequencing
- Genetic testing: pacb.com/human-genomics/genetic-testing
- Targeted sequencing: pacb.com/products-and-services/applications/targeted-sequencing
- Whole genome sequencing: pacb.com/products-and-services/applications/whole-genome-sequencing
Where would long-read HiFi sequencing make the biggest difference in your genomics or PGx research workflow? *Comment below.*
*Subscribe for more PacBio genomics content:*
youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: pacb.com/legal-and-trademarks
For Research Use Only. Not for use in diagnostic procedures.
#HiFiSequencing #ClinicalGenomics #Pharmacogenomics
Stuart Scott discusses Stanford's long-read HiFi sequencing work, from PGx phasing to 200+ SPIRA orders.
In this PRISM 2026 presentation, Scott introduces Stanford Medicine Clinical Genomics Laboratory infrastructure, including secure clinical-cloud workflows and CAP/CLIA requirements, then follows amplicon, genome sequencing, and pharmacogenomics examples. The deepest focus is SPIRA, Stanford Pharmacogenomics Implementation and Reporting Architecture, and the practical questions around interpretation, provider support, preauthorization, and scale.
*Key takeaways*
- Stanford describes long-read HiFi work alongside laboratory infrastructure, including secure cloud computation and CAP/CLIA requirements.
- Long-read phasing changed an NUDT15 example from intermediate to poor metabolizer in Scott's pharmacogenomics discussion.
- Scott summarizes Stanford WGS benchmarking as above 99.9% recall and precision in non-difficult regions and above 99% in difficult regions.
- SPIRA combines a HiFi PGx panel with PharmCAT, StarPhase, pharmacist support, and provider education as Stanford works through clinical PGx implementation.
- Scott cites a 12-gene pharmacogenomic panel trial showing a 30% reduction in adverse drug reactions, then discusses Stanford's 200+ SPIRA orders and scale-up questions around Revio.
*Featured speakers*
- Stuart A. Scott, PhD, FACMG (Stanford Medicine Clinical Genomics Laboratory)
*Chapters*
00:00 Meet Stuart Scott and Stanford Clinical Genomics Laboratory
00:33 Talk roadmap: amplicon sequencing, genome sequencing, and PGx
01:16 Clinical lab infrastructure, secure cloud, and CAP/CLIA requirements
03:49 Stanford's long-read HiFi PGx panel launch
04:17 Amplicon sequencing context and early long-read applications
06:34 NUDT15 phasing and phenotype interpretation
08:15 Long-read WGS work at Stanford and GREGoR context
09:05 Genome in a Bottle benchmarking strategy
09:37 WGS recall and precision in difficult and non-difficult regions
10:45 CAP validation strategy for long-read genome sequencing
11:33 CNV, SV, repeat expansion, and methylation validation work
12:14 SPIRA and the case for clinical pharmacogenomics
14:01 Trial evidence and economic-value arguments for PGx
15:16 HiFi PGx panel design with PacBio and Twist
16:35 Translating PGx sequencing with PharmCAT and StarPhase
17:34 SPIRA production notes, orders, pharmacist support, and education
18:45 Scale-up questions and future Revio discussion
19:09 Closing
*Resources*
- HiFi sequencing technology: pacb.com/technology/hifi-sequencing
- Genetic testing: pacb.com/human-genomics/genetic-testing
- Targeted sequencing: pacb.com/products-and-services/applications/targeted-sequencing
- Whole genome sequencing: pacb.com/products-and-services/applications/whole-genome-sequencing
Where would long-read HiFi sequencing make the biggest difference in your genomics or PGx research workflow? *Comment below.*
*Subscribe for more PacBio genomics content:*
youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: pacb.com/legal-and-trademarks
For Research Use Only. Not for use in diagnostic procedures.
#HiFiSequencing #ClinicalGenomics #Pharmacogenomics
