Illumina teams with FSU lab to expand genome testing for rare diseases
Clinical sequencing services aim to speed diagnoses for rare disease patients
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Illumina has announced that its Laboratory Services unit is providing clinical genome sequencing and interpretation services to the diagnostic lab at the Florida Institute for Pediatric Rare Diseases (IPRD) at Florida State University to help diagnose rare diseases.
This collaboration aims to expand the use of whole-genome sequencing — a laboratory process that reads a person’s entire genome, or complete DNA sequence – to help shorten the time it takes to diagnose and manage rare diseases.
Genome sequencing may improve rare disease diagnosis
“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,” Eric Green, MD, PhD, chief medical officer of Illumina, said in a company press 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.”
Diagnosing rare genetic diseases, including aromatic l-amino acid decarboxylase (AADC) deficiency, can be challenging. Many rare diseases share symptoms with other conditions, and standard medical tests may not identify a clear cause. One of the most widely used genetic tests is exome sequencing, which reads only the parts of DNA that directly code for proteins. However, most of the genome does not code for proteins and instead helps regulate how genes are turned on and off.
Whole-genome sequencing reads nearly all of a person’s DNA, including these noncoding regions, allowing doctors and researchers to detect mutations and other genetic changes that exome sequencing may miss.
In recognition of Rare Disease Day, Green said at a university event on Feb. 27 that genome sequencing currently provides a diagnosis in about 30% to 50% of rare disease cases. He added that genomic testing can be used to diagnose rare conditions throughout life — most often during childhood — and may support rapid diagnosis in intensive care units and for newborn screening soon after birth.
Illumina services help labs expand rare disease genome testing
Illumina has established a CLIA-certified laboratory that provides clinical whole-genome sequencing services for patients with suspected or undiagnosed rare genetic diseases. The company also aims to equip more laboratories with tools to diagnose rare diseases through Illumina Laboratory Services, which helped the IPRD Diagnostic Lab rapidly begin its clinical diagnostic testing.
“Now, all the work we do means we can impact a patient—a child—and a family going through a challenging health situation,” said Cynthia Vied, PhD, scientific director at IPRD Diagnostic Lab. “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.”
Last year, Illumina launched PromoterAI, an artificial intelligence (AI) algorithm designed to help researchers diagnose more people with rare diseases caused by mutations in noncoding regions of DNA. These regions include gene promoters — DNA sequences that help control when and how a gene is transcribed into messenger RNA — an intermediate molecule that carries gene instructions for protein production.
