PacBio collaborates with Genomics England on rare disease study

PacBio has announced a collaboration with Genomics England to study how its technology can be used for identifying genetic variants in unexplained rare disease cases.

A provider of sequencing platforms, PacBio’s technology will be used to re-sequence a selection of samples collected during Genomics England’s 100,000 Genomes Project. These samples have previously been analysed with short read sequencing technology.

Now, the study will aim to find out the operational and clinical benefits of long-read sequencing in identifying genetic mutations associated with rare diseases.

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).

“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 chief executive officer 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, and follows recent announcements of 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 excited to discover whether new technologies like PacBio’s HiFi, can identify additional genomic variants in regions of the genome that are not readily accessible by short-read sequencing technologies. 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.”