PacBio, Invitae set sights on whole-genome sequencing

The companies are aiming to develop a new production-scale platform to expand clinical adoption of whole-genome sequencing

January 14, 2021
DDNews Staff
PacBio, Invitae set sights on whole-genome sequencing

MENLO PARK, Calif.—Pacific Biosciences of California, Inc. (PacBio) and Invitae Corporation have begun a multi-year collaboration to develop a production-scale, high-throughput sequencing platform that will apply PacBio's highly accurate HiFi sequencing to expand Invitae's whole-genome testing capabilities. HiFi sequencing combines the high accuracy of Sanger sequencing (>99.9 percent) with long reads up to 25 kb. According to PacBio, the technology offers excellent detection of variants from single nucleotide changes to large structural variants, even in regions of the genome that are difficult to sequence.

“Invitae is a leader in medical genetic testing and has driven innovation in this area for more than a decade. We are excited to join forces to develop and implement this new platform, which is built on our shared vision that broad access to whole-genome sequencing in the clinic has the power to improve diagnosis and access to precision therapies,” said Christian Henry, president and CEO of Pacific Biosciences. “Building on the proven performance of our HiFi sequencing, we believe that this new system will ultimately enable us to deliver the most clinically relevant whole genome at substantially less than $1,000, which we believe is a critical price threshold needed to expand adoption in routine medical care.”

Both PacBio and Invitae will commit significant resources to this undertaking, including talent, technology, collaborative oversight, and on Invitae's part, capital investment.

The companies hope to generate a new class of cost-effective assays that could make a more comprehensive whole-genome sequencing approach more accessible in fields such as immune system response, carrier screening, and other heritable diseases.

“Whole-genome sequencing has the ability to significantly improve diagnosis for a wide range of diseases and guide healthcare throughout life. This collaboration is aimed at developing the technology to make it affordable and accessible to all patients who can benefit from in-depth, full genome information,” Sean George, co-founder and CEO of Invitae, stated in a press release. “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. 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.”

A few days later, Invitae shared additional partnering news, reporting that it had kicked off a project with Bristol Myers Squibb, Janssen Research & Development, LLC, Novartis, and Genentech, a member of the Roche Group. The companies will work together to develop a standardized panel for molecular residual disease (also known as minimal residual disease, MRD) detection in patients with acute myeloid leukemia (AML), in order to support clinical trial testing across a variety of drug development programs.

The multi-gene, next-generation sequencing panel will be built on Invitae's Anchored Multiplex PCR (AMP) chemistry, which enables tests to be completed in labs at local clinical testing sites for reduced turnaround times. The panel will be engineered to detect more than 90 percent of genetic alterations associated with AML, including targets such as CEBPA, FLT3, IDH1, and IDH2.

"Given the existing evidence that shows assessing the presence of MRD can provide valuable information on how well a treatment may be working, we hope to further establish MRD detection as an objective tool for clinicians to create the best treatment plan for individual patients," commented Dr. Jason Myers, president of oncology at Invitae. "Together with leading, global biopharmaceutical companies, Bristol Myers Squibb, Janssen, Novartis, and Genentech, we intend to develop a panel that can accurately measure and standardize MRD data collection in clinical trials with the goal of accelerating trial timeframes to bring novel therapies to patients in need sooner."

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