PacBio aims to dive deeper into the family planning market with an updated carrier screening kit designed to take multiple DNA tests that check parents for specific genes and combine them into a single, high-throughput assay.
The newly expanded PureTarget panels aim to capture genes linked to hereditary conditions such as spinal muscular atrophy, hemophilia, Friedreich's ataxia and fragile X syndrome—as well as conditions that are difficult to sequence at scale, like Gaucher disease, retinitis pigmentosa and early infantile epileptic encephalopathy.
With 24- and 96-sample formats, the company said up to 100,000 tests could be processed each year using its long-read Revio system. In addition to the carrier screening kit and automation support, PacBio is also rolling out a new panel for 38 neurological disease targets, as well as supplies for designing and validating customized assays.
“Clinical laboratories need scalable, accurate, and easy-to-use carrier screening tools,” PacBio President and CEO Christian Henry said in a statement. “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.”
Earlier this month, PacBio announced a separate commercial partnership with EpiCypher in multi-omic whole genome sequencing. EpiCypher joined the company’s compatibility program to bring its CUTANA Hia5 enzyme for Fiber-seq research assays to run on PacBio’s HiFi sequencers.
Fiber-seq measures epigenomic features such as chromatin accessibility, methylation and variations in individual DNA molecules, with the goal of tying them directly to protein mechanisms behind rare diseases and other conditions.