NEW YORK – Quest Diagnostics said Tuesday that it is collaborating with Broad Clinical Labs to explore the clinical value of whole-genome sequencing as a first-line genetic test for developmental delay disorders.
The partners aim to demonstrate that WGS can provide insights that are at least as clinically accurate as the multiple conventional tests, including chromosomal microarrays and gene panels, that clinicians typically use to diagnose patients with developmental delay.
Quest will provide de-identified data, including phenotypic data, as well as blood, saliva, and buccal swab specimens it has previously tested using CMAs and other tests. Broad will then perform WGS on the specimens to determine how concordant the methods are.
The collaboration will also explore the potential of WGS to help diagnose fragile X syndrome. According to Quest, unlike CMA or exome sequencing, WGS can rule out fragile X as a cause of developmental delay or indicate the need for additional confirmatory testing.
"WGS has the power to enable a new diagnostic paradigm, where a physician can access genetic insights faster on the patient's diagnostic journey — without multiple doctor visits and lab tests," Mark Gardner, senior VP of molecular genomics and oncology at Quest, said in a statement. "Broad is the leader in genomic science, and Quest is the leader in laboratory testing at scale, so together we have the right combination of skills to explore the potential of WGS to replace the conventional model."
"This research initiative by Broad and Quest involves both phenotypic and genotypic data sharing in an effort to further enhance interpretation of genomic tests and the understanding of development delay," Heidi Rehm, medical director of Broad Clinical Labs and chief genomics officer of Massachusetts General Hospital, said in a statement. "This type of collaboration between commercial laboratories and research institutions is vital to advance the field of genetic testing and increase utility and economic value."