PacBio Enters Collaboration with Genomics England to Sequence Biobanked Rare Disease Samples

Rare Daily Staff

PacBio said it has entered a collaboration with Genomics England to study PacBio’s technology for identifying genetic variants in unexplained rare disease cases.

Genomics England was initially created to deliver the 100,000 Genomes Project—the largest whole genome sequencing disease cohort of cancer and rare disease participants in the National Health Service (NHS). The study will re-sequence a selection of samples collected during Genomics England’s 100,000 Genomes Project, which were previously analyzed with short read sequencing technology. The study is intended to reveal potential operational and clinical benefits of long-read sequencing in identifying genetic mutations associated with rare diseases.

“PacBio HiFi sequencing is a powerful tool for understanding the genetic underpinnings of rare disease, cancer, and other applications as it provides clinical researchers with the ability to view the genome more completely than other sequencing technologies,” said Christian Henry, president and CEO of PacBio. “Our collaboration with Genomics England is part of a broader strategy to demonstrate the benefits of HiFi sequencing when attempting to identify rare diseases.

The collaboration follows similar recent announcements of PacBio rare disease-focused research collaborations with Radboud University Medical Center, Care4Rare Canada Consortium, ARUP Laboratories, UCLA Health, Rady Children’s Institute for Genomic Medicine, and Children’s Mercy Kansas City.

“The 100,000 Genomes Project was able to find actionable mutations in around 25 percent of patients with rare disease,” said Parker Moss, chief Ecosystem & Partnership officer at Genomics England. “We are hopeful that additional insight gained during the study may, ultimately, lead to new therapeutic or clinical trial options for patients with rare disease. This study represents our continued commitment to the 100,000 Genomes Project participants, and also to our quest to seek out the benefits of new disruptive technologies.”

Photo: Christian Henry, president and CEO of PacBio