In a strategic move, PacBiohas entered the high-throughput carrier screening market with a new, enhanced suite of PureTarget products, leveraging its highly accurate HiFi sequencing technology. This new solution allows clinical laboratories to consolidate what were once multiple specialized assays into a single, scalable test. This is particularly beneficial for resolving challenging genes associated with inherited conditions, such as has entered the high-throughput carrier screening market with a new, enhanced suite of PureTarget products, leveraging its highly accurate HiFi sequencing technology. This new solution allows clinical laboratories to consolidate what were once multiple specialized assays into a single, scalable test. This is particularly beneficial for resolving challenging genes associated with inherited conditions, such as fragile X syndrome, spinal muscular atrophy, and Friedreich Ataxia, which historically required fragmented and costly workflows. Recent research underscores the growing need for carrier screening, with up to 71% of individuals carrying at least one pathogenic variant.
The expanded PureTarget portfolio, designed to cover all challenging tier 3 genes, is available in three complementary configurations: a carrier screening panel for inherited reproductive conditions, a repeat expansion disorder panel for neurological diseases, and a control panel.
These kits allow labs to streamline their workflows and adapt their programs from targeted clinical initiatives to national population-screening efforts. Dale Muzzey, Chief Scientific Officer of Myriad Genomics, praised the new approach for its ability to focus on clinically relevant, hard-to-sequence regions across many samples, which can enhance both the sensitivity and specificity of results.
The upgraded kits are capable of handling up to 100,000 samples per year on a single Revio system, making them suitable for large-scale screening initiatives.
According to Christian Henry, President and CEO of PacBio, the new products consolidate fragmented workflows into a single test, enabling laboratories to offer comprehensive carrier screening at scale with high confidence and operational efficiency at a profitable price point. This move, which includes the addition of a carrier screening panel, expanded disease gene content, and automation support, demonstrates PacBio's commitment to simplifying complex genomic testing and expanding access to comprehensive screening globally.