Long-read sequencing platform company Pacific Biosciences (PacBio) announced today a multi-year collaboration with genetic test provider Invitae to begin development of a production-scale high-throughput sequencing platform with the intent to broaden Invitae’s testing capabilities via PacBio’s HiFi sequencing platform.
The terms of the collaboration were not released, though the companies noted that both companies will devote “significant resources” to the project.
“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 CEO of Invitae 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.”
Until now, next-generation sequencing (NGS), and PCR have been the workhorses of the clinical application of genetic sequencing. But the development and maturation of long-read sequencing systems from PacBio and others have highlighted the limitations of these other technologies, notably the identification of large amplicons and by providing a more accurate picture of genome assembly. This more complete view of the genome, and the application of long-reads for difficult-to-sequence regions of the genome, has the ability to identify regions of the genome implicated in disease that short-reads cannot.
PacBio’s HiFi sequencing combines the high accuracy of Sanger sequencing (>99.9%) with long reads up to 25 kb. According to the company, 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.
Leveraging these capabilities, PacBio and Invitae will look to develop new whole-genome assays in areas such as carrier screening, immune system response, and other heritable diseases.
“Invitae is a leader in medical genetic testing and has driven innovation in this area for more than a decade,” 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.”