Pacific Biosciences today announced a multi-year collaboration with Invitae Corporation to begin development of a production-scale high-throughput sequencing platform.
Identifying the many underlying genetic influences on human health is emerging as a tool for evaluating overall clinical care and prognosis. Whole genome sequencing offers the most comprehensive view of medically relevant genetic variations. PacBio cites expectations, by the Global Alliance for Genomics and Health, that by 2025 as many as sixty million genomes will be sequenced. 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.
“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,” said Sean George, co-founder and Chief Executive Officer of Invitae. “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. “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.”
PacBio HiFi sequencing combines the high accuracy of Sanger sequencing (>99.9%) with long reads up to 25 kb. Together, the length and accuracy of HiFi reads provide excellent detection of variants from single nucleotide changes to large structural variants, even in hard-to-sequence regions of the genome.
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 November 2020, Ark Invest, a major institutional investor in PacBio, said, “Pacific Biosciences (PACB) pioneered long-read sequencing with its HiFi sequencing method. Unlike short-read NGS, long-reads can detect difficult-to-sequence mutations known as structural variants (SVs). SVs are critical to understanding and diagnosing conditions within oncology, rare disease, hereditary disease predisposition, and neurology. In our view, Illumina’s recent decision to repurchase GRAIL and focus on multi-cancer screening, effectively competing with its customers, will galvanize PacBio’s acceptance in the clinical market.”
About Pacific Biosciences
PacBio is empowering life scientists with highly accurate long-read sequencing. The company’s innovative instruments are based on Single Molecule, Real-Time (SMRT®) Sequencing technology, which delivers a comprehensive view of genomes, transcriptomes, and epigenomes, enabling access to the full spectrum of genetic variation in any organism. Cited in thousands of peer-reviewed publications, PacBio® sequencing systems are in use by scientists around the world to drive discovery in human biomedical research, plant and animal sciences, and microbiology.
Invitae is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae’s goal is to aggregate the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower prices.