Industry News: Pacific Biosciences and Invitae to develop whole genome sequencing-based assays for pediatric epilepsy diagnostics

The collaboration will focus on the investigation of clinically relevant molecular targets for use in the development of advanced diagnostic testing for epilepsy

23 Oct 2020


Invitae Corporation, a leading genetics company, and Pacific Biosciences of California, Inc., a leading provider of high-quality sequencing of genomes, transcriptomes and epigenomes, have announced a research collaboration focused on the investigation of clinically relevant molecular targets for use in the development of advanced diagnostic testing for epilepsy. To support this collaboration, Invitae is expanding their PacBio sequencing capacity to meet the growing demand for clinical applications dependent on highly accurate genomic information.

More than half of epilepsies can be traced to a genetic cause. When a child presents with seizures, genetic testing can help identify more than 100 underlying, often rare conditions. Early genetic testing may be the most cost-effective, direct, and accurate diagnostic tool for children, shortening lengthy diagnostic odysseys. Delays in diagnosis can be devastating for children, as some genetic epilepsies are neurodegenerative and early symptoms may be subtle and easy to misdiagnose. Invitae’s Behind the Seizure® program is a prominent collaborative program that was developed to provide faster diagnosis for young children with epilepsy in many regions around the world.

“It is estimated that nearly 50 million people are living with diagnosed epilepsy worldwide, but the underlying cause remains unknown for approximately half of these individuals,” said Robert L. Nussbaum, MD, Chief Medical Officer at Invitae. “Identifying the many underlying genetic causes of epilepsy is becoming increasingly critical to overall clinical management and prognosis. Through this research collaboration with PacBio, Invitae aims to develop innovative methods that will provide more accurate answers to individuals living with epilepsy and their healthcare providers.”

The first phase of the research collaboration between Invitae and PacBio is focused on a whole genome sequencing study of a large pediatric epilepsy patient cohort, derived from the Behind the Seizure® program. Sequencing will be performed using PacBio’s highly accurate, long-read SMRT® Sequencing technology, known as HiFi sequencing, to generate comprehensive variant profiles used to investigate the genetic etiology of epilepsy. This research is intended to accelerate Invitae’s development of assays to help patients that have been unable to get a diagnosis with conventional short-read sequencing technologies and facilitate improved treatment options based on specific genetic targets.

“We are honored to partner with Invitae, a recognized leader in genetics, to co-develop methods that have the potential to support earlier genetic testing and intervention to aid treatment selection for millions of people living with epilepsy worldwide,” said Christian Henry, Chief Executive Officer of PacBio. “Working with leading organizations such as Invitae is an important part of our strategy to accelerate the use of our highly accurate long-read sequencing platform in large-scale whole genome sequencing initiatives.”

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