PacBio at JPM: Portfolio Development, LDTs
By Allison Proffitt
January 21, 2025 | PacBio’s president Christian Henry gave the sequencing company’s 43rd Annual J.P. Morgan Healthcare Conference address last week. And while Oxford Nanopore and Illumina both doubled down on proteomics and a multi-omic future, Henry stayed focus on PacBio’s mission to enable the promise of genomics to better human health.
PacBio’s goals for 2025 are to drive innovation, expanding to a multi-platform portfolio, improve efficiency and reduce costs, and explore emerging HiFi applications—including clinical laboratory-developed tests (LDTs).
Building a Product Portfolio
Over the past two years, the company has been aggressively updating its sequencing fleet. Last November, Henry gave Bio-IT World a peek at the new Vega, a desktop, long-read sequencer with all the compute on board, that it launched at ASGH. Vega is part of the new philosophy for PacBio, Henry said then. “PacBio historically built one product for the market. They would launch a product and then start working on the next product, which would be a direct replacement for the prior product,” Henry told Bio-IT World. “This serial development path really is difficult… you alienate certain classes of customers that perhaps can’t afford your offering.”
At the J.P. Morgan Healthcare Conference last week, Henry reiterated the PacBio stance: to offer a portfolio of sequencers that reach different kinds of customers.
“PacBio provides a comprehensive portfolio from end-to-end, from sample-to-answer, of long and short read sequencing technologies,” he said. In 2023, PacBio launched the Revio long read platform and the Onso short read program. In 2024, the desktop Vega. On deck for the future: Henry teased a population-scale HiFi platform that he says is under development and an SBB platform for Q40+ reads that will be in the pilot phase by the second half of 2025. Both forthcoming platforms align with goals presented at the 2024 J.P. Morgan event.
PacBio placed 97 Revio units in 2024, Henry reported, making Revio the fastest platform to be adopted in the company’s history. At genomes priced at $500 or less, Revio’s pricing has been, “fundamental to the fact that it allows us to get into these population-scale programs and allows us to have conversation in the clinical market for whole genome sequencing,” Henry said. For customers for whom price is still an important barrier to market entry, “driving long-read sequencing down toward where short-read sequencing is, is critical for us to open up the opportunities.”
Vega—which exceeded Henry’s November 2024 predictions and sold 7 units before the end of the year—sells for $169,000 and serves a market of desktop customers, which Henry estimates is over $1 billion. “We had double-digit orders,” Henry said. “The truth is we could only ship seven; that’s all the units we had available to ship.” Scaling the Vega pipeline is a top priority, Henry added. There are “hundreds” of interested customers, he reports, the majority are new to PacBio. “70% of those opportunities are brand new customers. That’s actually, for me, a very exciting metric.” Vega will widen the company’s reach, Henry said, “so that we can get more customers leveraging HiFi technology, creating new applications, because that’s what happens when you have new customers testing or using the technology.”
PacBio also focused on strengthening its financial position in 2024: reducing operating expenses, reducing debt load, reducing reporting layers within the business. “As we reduced our expenses, we were laser-focused on reducing spans and layers and one of the things that we uncovered is we became more efficient and actually more effective. It’s one of the reasons why the Vega platform was actually launched early,” Henry said.
Henry said PacBio is planning to bring efficiencies to the platforms as well. He mentioned improving throughput with higher density SMRT cells, which will also reduce the cost; and moving to more advanced semiconductor manufacturing, which will again improve cost. PacBio is also looking into chip reuse and faster chemistries.
LDT Vision
But the real “watershed moment” for PacBio in 2024 came on the clinical side of the business, Henry said. He listed “just a few” customers who adopted HiFi long reads in their clinical work including Quest Diagnostics, Myriad Genetics, Bioscientia, Radboud University Medical Center, J. Craig Venter Institute, and Berry Genomics.
These customers are adopting long read sequencing and HiFi reads in products like targeted panels for neurological disorders, carrier screening, neurosensory disorders, and whole genome sequencing for rare disease.
The work with RadboudUMC was published last week in the American Journal of Human Genetics. The study, led by Christian Gilissen and Lisenka Vissers of Radboudumc, used PacBio’s Revio platform and HiFi long reads to analyze 100 challenging patient samples where the genetic causes of rare diseases had been difficult to identify in previous investigations using short reads combined with various supplementary tests. HiFi sequencing results from these samples identified an impressive 93% of pathogenic variants, possibly enhancing cost-effective diagnostic implementation. HiFi technology also enabled the detection of genetic variants missed by short-read approaches, including complex structural variants and DNA methylation abnormalities to be identified. So far the study has processed 981 samples. (DOI: 10.1038/s41591-024-03420-w)
The study symbolizes the potential of genomic medicine and of PacBio’s approach. “Revio and now Vega are replacing legacy technologies and enabling new insights and new clinical opportunities that didn’t exist before because the technology wasn’t there,” Henry said. PacBio has taken notice of these customers’ success. “We’ve taken this momentum… and we intend to develop and launch an IVD solution,” Henry said, aligned to the FDA final rule stage 4 on laboratory developed tests.
Much of the pipeline is already in place, he said: the Nanobind PanDNA test for saliva/buccal extraction, PureTarget panel of gene targets, and the Vega desktop sequencer would also work well in a clinical setting. PacBio is pursuing a premarket approval for high-risk LDTs (not expected before October 2027) and 501(k) or de novo submission for low- to moderate-risk LDTs (not expected before April 2028). “We’ll be working with partners to develop IVD-driven assays so that we can have an FDA-cleared instrument by the time the stage for market approval is required,” Henry said. “This is an important strategic priority for the company because we do think the Vega system has applications across a wider array of clinical areas.”