PacBio, Invitae Announce Plans To Build New Sequencing Platform

January 13, 2021

By Bio-IT World Staff

January 13, 2021 | Pacific Biosciences and Invitae today announced a multi-year collaboration to begin development of a production-scale high-throughput sequencing platform leveraging the power of PacBio’s highly accurate HiFi sequencing to expand Invitae’s whole genome testing capabilities.                         

In his presentation at the 39th Annual J.P. Morgan Healthcare Conference in San Francisco yesterday, George pitched a vision of an ecosystem to deliver better health benefits comprising access to testing, lifelong genome management, and access to genetic information services to inform healthcare decisions throughout life. 

“By providing the broadest view of genetic information to more and more people on a single platform, we have a unique ability for that data to be put to work to improve outcomes throughout the ecosystem—whether that be faster clinical trials, better therapies, or earlier diagnoses,” George said in the presentation. “We will also be uniquely able to analyze and develop new insights from the massive amounts of patient and outcomes data flowing through our platform.” 

Whole genome sequencing is, of course, key to that vision. With the development of a new sequencing platform, Invitae and PacBio aim to enable a new class of cost-effective assays that could be used to accelerate the accessibility of a more comprehensive whole genome sequencing approach in areas including carrier screening, immune system response, and other heritable diseases. 

“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," George said in a statement today announcing the collaboration. “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.”

“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 Chief Executive Officer of Pacific Biosciences in the same statement. 

“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.”

Through the collaboration, both companies will commit significant resources to support development of a production-scale sequencing platform designed with the capacity to process clinical whole genomes at scale. Those resources are expected to include talent, technology and collaborative oversight, and Invitae will also invest capital to support development throughout the multi-year effort.

In the Invitae presentation yesterday, George outlined the company’s growth strategy: expand usable content, improve customer experience, and drive volume leading to economies of scale and differential cost advantages. “What we do with that differential cost advantage is invest it directly back into either lowering prices for the access to the information, expanding the amount of content we can develop for the patient, or improving customer service.”