PacBio  has entered the high-throughput carrier screening market with an expanded suite of PureTarget products, designed to consolidate multiple specialized assays into a single, scalable test. The move positions PacBio’s highly accurate HiFi sequencing technology as a solution for analyzing some of the most challenging genes linked to inherited conditions.

Recent research indicates that up to 71% of individuals carry at least one pathogenic variant, highlighting the growing importance of carrier screening in family planning. Historically, technically difficult genes — such as those associated with fragile X syndrome (FMR1), spinal muscular atrophy (SMN1), and Friedreich Ataxia (FXN) — required multiple workflows and technologies, slowing adoption and increasing costs.

PacBio’s expanded PureTarget portfolio now provides broad, accurate screening solutions, including coverage of all challenging tier 3 genes identified in the American College of Medical Genetics technical standard. The portfolio includes three complementary kits: a carrier screening panel for inherited reproductive conditions, a repeat expansion disorder panel for neurological diseases, and a control panel for custom assay design and validation.

Dale Muzzey, chief scientific officer at Myriad Genomics, said: “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. 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 kits are available in 24- and 96-sample formats and support throughput of up to 100,000 samples per year on a single Revio system, making them suitable for population-scale screening, reproductive health clinics, and large health systems.

Christian Henry, president and CEO of PacBio, said: “Clinical laboratories need scalable, accurate, and easy-to-use carrier screening tools. 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 automation support, custom panel design, and expanded disease gene content, PacBio’s PureTarget portfolio demonstrates the company’s commitment to simplifying complex genomic testing and broadening access to comprehensive carrier screening worldwide.