Simon-Barnett By Simon Barnett | @sbarnettARK
Analyst
During the J.P. Morgan Healthcare Conference last week, Invitae (NVTA), a leading medical genetics company, and Pacific Biosciences “PacBio” (PACB), a provider of long-read sequencing instruments, announced a collaboration to develop an ultra-high-throughput sequencing platform based on PacBio’s HiFi sequencing chemistry. This collaboration could increase the number of threats to companies focused on short-read sequencing.
Bolstered not only by results from this year’s PrecisionFDA Truth Challenge but also by improvements in HiFi accuracy via Google’s (GOOGL) DeepVariant as well as research community feedback, we think PacBio’s HiFi sequencing method provides the most complete and accurate view of the human genome.
To drive widespread adoption, PacBio likely needs to improve instrument throughput and variable cost. Collaborating with Invitae, we imagine PacBio can gain critical insights into its customers’ challenges, from automated sample prep to large-scale data processing. Invitae’s high sample volume could help PacBio’s long-read sequencing to capitalize on its Wright’s Law curve, as costs decline 28% for every cumulative doubling in the number of whole human genomes sequenced on long-read machines.
In our opinion, HiFi sequencing should help Invitae pull further away from its competition in the molecular diagnostics space, enabling the detection and evaluation of hard-to-sequence variants that could change patient management meaningfully. Unlike with short-read sequencing, HiFi-sequenced genomes should allow for the digital reassessment of patients’ DNA throughout their lifetimes, especially as researchers learn more about hard-to-sequence genes and the effects of structural variation within the human genome.
Ultimately, we believe the combination of talent, resources, know-how, and sample volume should allow both companies push long-read sequencing into routine medical practice faster than otherwise would be the case. By publishing data on clinical utility and diagnostic yields across disease types, they also should be able to demonstrate the system-wide value of HiFi sequencing over short-read whole genome sequencing.
