PacBio has officially announced its entry into the high-throughput carrier screening market, unveiling an expanded suite of PureTarget products that leverage its renowned HiFi sequencing technology. This strategic move aims to streamline genetic testing by enabling clinical laboratories to consolidate multiple specialized assays into a single, scalable test that addresses complex genes associated with inherited conditions.
Research indicates that up to 71% of individuals carry at least one pathogenic variant, underscoring the increasing relevance of carrier screening in family planning. The demand for comprehensive carrier screening is surging across commercial laboratories, health systems, and government-funded programs globally. Historically, the analysis of challenging hereditary genes required multiple technologies, which hindered the adoption of comprehensive screening and increased costs.
PacBio’s enhanced PureTarget portfolio offers broad solutions for carrier screening, including coverage of all tier 3 genes identified by the American College of Medical Genetics. The new panels, available in 24- and 96-sample kit formats, are designed to meet various laboratory needs and can replace fragmented workflows with a single streamlined process. This innovation supports throughput of up to 100,000 samples annually on a single Revio system, making it suitable for large-scale initiatives in reproductive health and population screening. As noted by Dale Muzzey, PhD, chief scientific officer of Myriad Genomics, this advancement not only enhances lab workflows but also improves the sensitivity and specificity of genetic testing results, benefiting laboratories, clinicians, and patients alike.
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