The collaboration aims to accelerate diagnostic testing for rare genetic diseases affecting an estimated 30 million Americans.
Illumina Inc has announced that its CLIA-certified laboratory services division will provide clinical sequencing and interpretation services to the new Diagnostic Lab at Florida Institute for Pediatric Rare Diseases (IPRD) at Florida State University (FSU) College of Medicine.
The partnership leverages whole-genome sequencing technology to help diagnose rare genetic diseases, which affect approximately 30 million Americans. An estimated 15 million American children are impacted by rare diseases, according to the company.
“An estimated 30 million people across the country are living with a rare disease today, and clinical whole-genome testing provides a transformative opportunity to end the diagnostic odyssey for patients,” says Eric Green, MD, PhD, chief medical officer of Illumina, in a release. “Our colleagues at IPRD will now be equipped to break diagnostic barriers, and we are proud to help them accelerate making life-saving discoveries.”
Clinical Implementation Challenges
Diagnosing rare genetic diseases presents significant challenges for laboratories. Advanced genomic sequencing and interpretation are required to uncover novel mutations that can be hidden in deep parts of the genome. Results must also be reliable and actionable for clinicians who often encounter diseases they have never seen before.
“I’ve been running Illumina sequencers for over 10 years, but it’s a new ball game when you’re talking about clinical samples,” says Cynthia Vied, PhD, scientific director, IPRD Diagnostic Lab at FSU College of Medicine, in a release. “We have learned how to do things much differently in the clinical lab compared to my work in the research facility, and I think it has helped both sides.”
The transition from research to clinical applications requires different workflows and quality standards. Vied notes the impact extends beyond technical considerations.
“Now, all the work we do means we can impact a patient—a child—and a family going through a challenging health situation,” says Vied in a release. “We can help them understand and hopefully help the physicians provide a treatment based on the diagnoses that we’re going to provide from the lab. That, to me, is extraordinary.”
Service Implementation
The IPRD Diagnostic Lab utilized services from Illumina’s Customer Success and Implementation team for workflow enablement. Illumina Laboratory Services enabled the lab to rapidly initiate clinical diagnostic testing through clinical genome sequencing and interpretation services.
The collaboration builds on an existing relationship between Illumina and FSU College of Medicine. Illumina’s goal is to equip more laboratories with solutions and tools needed to diagnose rare diseases more consistently and reduce the time required to transition from diagnosis to clinical management.
Photo caption: Illumina whole-genome sequencing technology to accelerate rare disease testing in Florida
Photo credit: Illumina
