PacBio Enters High-Throughput Carrier Screening Market With Standalone HiFi Sequencing Assay for Challenging Genes

 PacBio (NASDAQ: PACB), announced its entry into the high-throughput carrier screening market with a significantly expanded and enhanced suite of PureTarget products. The updated solutions leverage PacBio’s highly accurate HiFi sequencing technology to allow clinical laboratories to consolidate multiple specialized assays into a single, scalable test capable of resolving some of the most challenging genes associated with inherited conditions. 

Recent research shows that up to 71% of individuals carry at least one pathogenic variant, highlighting the growing importance of carrier screening in family planning.¹ The use of carrier screening is rapidly expanding across commercial labs, health systems, and government-funded programs worldwide. The analysis of technically difficult hereditary genes – such as those linked to fragile X syndrome (FMR1), spinal muscular atrophy (SMN1), and Friedreich Ataxia (FXN) – has historically required multiple technologies and specialized workflows. This fragmentation slowed adoption of comprehensive carrier screening, increased costs, and limited global access.  

PacBio’s expanded PureTarget portfolio now provides laboratories with broad, accurate carrier screening solutions, including coverage of all challenging tier 3 genes identified in the American College of Medical Genetics technical standard.² The panels are available in 24- and 96-sample kit formats, with three complementary configurations designed to meet a range of laboratory needs: 

·        A carrier screening panel for inherited reproductive conditions 

·        A repeat expansion disorder panel for neurological diseases 

·        A control panel to support custom assay design and validation 

Together, these kits allow laboratories to replace multiple specialized assays with a single streamlined workflow, adaptable from targeted clinical programs to national population-screening initiatives. 

“PureTarget is a breakthrough because it focuses PacBio’s outstanding long-read sequencing quality on clinically relevant, hard-to-sequence regions across many samples at once,” said Dale Muzzey, Chief Scientific Officer of Myriad Genomics. “This approach not only streamlines lab workflows by reducing the need for multiple specialized assays, but it can also enhance both the sensitivity and specificity of results. It's a win for labs, clinicians, and patients.” 

The upgraded kits support throughput of up to 100,000 samples per year on a single Revio system, making them ideal for population-scale screening initiatives, reproductive health clinics, and large health systems.  

“Clinical laboratories need scalable, accurate, and easy-to-use carrier screening tools,” said Christian Henry, President and Chief Executive Officer of PacBio. “Our carrier screening products consolidate fragmented workflows into one test, enabling laboratories everywhere to offer comprehensive carrier screening at scale, with high confidence in clinical outcomes and operational efficiency. All of this is possible at price points required to enable laboratories to make a profit given the reimbursement rates available for this type of testing.” 

With the addition of a carrier screening panel, expanded disease gene content, automation support, and custom panel design, PureTarget gives laboratories the flexibility to scale programs securely and efficiently. PacBio’s entry into this market shows a clear commitment to simplifying complex genomic testing and expanding access to comprehensive screening worldwide.