The updated solutions leverage PacBio’s HiFi sequencing technology to allow clinical laboratories to consolidate multiple specialized assays into a single, scalable test.
PacBio has entered the high-throughput carrier screening market with an expanded suite of PureTarget products that leverage the company’s HiFi sequencing technology to allow clinical laboratories to consolidate multiple specialized assays into a single, scalable test.
The updated solutions can resolve challenging genes associated with inherited conditions, including those linked to fragile X syndrome, spinal muscular atrophy, and Friedreich ataxia, which have historically required multiple technologies and specialized workflows.
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. The analysis of technically difficult hereditary genes has traditionally slowed adoption of carrier screening, increased costs, and limited global access due to workflow fragmentation.
PacBio’s expanded PureTarget portfolio now provides laboratories with broad carrier screening solutions, including coverage of all challenging tier 3 genes identified in the American College of Medical Genetics technical standard. The panels are available in 24- and 96-sample kit formats with three configurations: a carrier screening panel for inherited reproductive conditions, a repeat expansion disorder panel for neurological diseases, and a control panel to support custom assay design and validation.
“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,” says Dale Muzzey, chief scientific officer of Myriad Genomics, in a release. “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.”
High-Throughput Capabilities
The upgraded kits support throughput of up to 100,000 samples per year on a single Revio system, making them suitable for population-scale screening initiatives, reproductive health clinics, and large health systems.
The kits allow laboratories to replace multiple specialized assays with a single streamlined workflow, adaptable from targeted clinical programs to national population-screening initiatives.
“Clinical laboratories need scalable, accurate, and easy-to-use carrier screening tools,” says Christian Henry, president and chief executive officer of PacBio, in a release. “Our carrier screening products consolidate fragmented workflows into one test, enabling laboratories everywhere to offer carrier screening at scale, with high confidence in clinical outcomes and operational efficiency.”
Market Positioning
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. The use of carrier screening is rapidly expanding across commercial labs, health systems, and government-funded programs worldwide.
Henry notes that the solution is available “at price points required to enable laboratories to make a profit given the reimbursement rates available for this type of testing.”
PacBio’s entry into this market represents the company’s commitment to simplifying complex genomic testing and expanding access to screening worldwide.
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