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Pacific Biosciences, Invitae to Develop Clinical Whole-Genome Sequencing Platform

NEW YORK – Pacific Biosciences on Wednesday said it will work with molecular diagnostics firm Invitae to develop a production-scale, high-throughput whole-genome sequencing (WGS) platform for clinical use.

The multi-year collaboration will leverage PacBio's HiFi long-read next-generation sequencing to develop cost-effective assays and make WGS-powered analysis more accessible for areas such as carrier screening, evaluating immune system responses, and diagnosing other heritable disease. Last year, the two companies announced a research collaboration to use PacBio's HiFi sequencing to develop new epilepsy diagnostics. 

"Our work with PacBio to date has demonstrated the increased diagnostic yield and clinical utility of using information from high-quality, long-read genomes to guide patient care," Invitae Cofounder and CEO Sean George said in a statement. "We believe this world-class sequencing technology combined with our clinical capabilities will uniquely position us to deliver those benefits cost effectively at scale. We look forward to working with the PacBio team to develop a new generation of innovative whole genome-based offerings."

PacBio's HiFi sequencing achieves the high accuracy of Sanger sequencing with long reads up to 25 kb, and can detect single-nucleotide and large structural variants, even in regions considered hard to sequence. PacBio President and CEO Christian Henry said in a statement that the codeveloped platform will eventually enable WGS analysis for below $1,000, which market observers believe is the price threshold the technology needs to cross for it to be adopted as part of routine medical care.

The financial details of the collaborations were not disclosed. However, the companies have agreed to provide "significant" resources to the project according to PacBio, such as expertise, technology, and oversight. Invitae said it will also invest capital to support the platform's development over the course of the collaboration.

Last year, PacBio, Children's Mercy Kansas City, and Microsoft partnered to use HiFi sequencing to improve diagnostic yield for rare diseases.