Study will explore clinical utility and health economic impact of whole-genome sequencing

Illumina, Inc. has announced an agreement with the Belgian Genetic Centers to evaluate whole-genome sequencing (WGS) for the diagnosis of patients with intellectual disabilities (ID) and/or developmental disorders (DD) in routine care. The study, run by the Belgian Resolve Rare Diseases group (BeSolveRD), will also assess the health economic impact of WGS versus current standards of care.

BeSolveRD will recruit 800 pediatric patients (neonates, children or adolescents) with ID/DD, plus their parents, from all eight Belgian Genetic Centers. Half of the patients and their parents will be randomly assigned to WGS, the other half will be given standard of care (whole exome sequencing/array). Illumina is supporting the study by providing sequencing reagents. Results from the study will inform reimbursement decisions regarding the use of WGS in routine clinical practice.

“Whole-genome sequencing has proven to be a powerful approach to identify the genetic causes in patients with rare developmental disorders,” said Professor Joris Vermeesch, from the Center of Human Genetics, UZ Leuven, Belgium, and principal investigator for the study. “We are grateful to Illumina’s support of this research.”

WGS is the most comprehensive method for rare disease testing and allows identification of pathogenic variants in non-coding regions as well as unprecedented detection of disease-causing copy number and structural variants. WGS can help uncover underlying etiology in patients and end the long search for a diagnosis which can take several years.

“At Illumina, we are working tirelessly to end the long and painful diagnostic odysseys for patients and their families, helping avoid the unnecessary hospital referrals, and the associated tests and procedures, so they may connect with other families that have children with the same condition and pursue the appropriate management,” said Phil Febbo, MD, Chief Medical Officer at Illumina. “We are pleased to be working with the BeSolveRD group to examine the value of WGS in this critically important study.”

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