Quest Diagnostics, a provider of diagnostic information services, and Broad Clinical Labs, an expert in whole genome sequencing (WGS), announced a research collaboration designed to demonstrate the clinical value of WGS as a first-line genetic test for postnatal diagnosis of developmental delay disorders.

The parties expect to demonstrate that WGS can provide insights—from a single blood test—that are at least as clinically accurate as the multiple conventional tests providers typically use to diagnose a patient.

“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,” says Mark Gardner, senior vice president, Molecular Genomics and Oncology at Quest Diagnostics. “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.”

A New Testing Model to Speed Diagnosis of Developmental Delays

Nearly 2% of children manifest intellectual disability. Yet, it can take weeks, months, or even years to identify the underlying cause of intellectual disability or developmental delay, causing a “diagnostic odyssey” for patients and their families. Identification of an underlying diagnosis can lead to changes in management that “will influence mortality, morbidity, and reduce the burden on patients and families searching for answers,” according to the American College of Medical Genetics and Genomics.

While the ACMG recommends WGS for first-line genetic testing for intellectual disability and developmental delay, some providers continue to follow prior guidelines that recommend chromosomal microarray (CMA) as a first-line test. CMA is less informative than WGS, and patients whose findings are negative by CMA can require additional rounds of testing, such as with narrow gene tests or genetic panels or exome sequencing, until a cause is found.

“Now that the $100 genome is moving closer to reality, it’s time to reconsider the way genetic testing is utilized and reimbursed and, ultimately, end the diagnostic odyssey for children and their families,” Gardner says.

How Quest Diagnostics and Broad Clinical Labs Will Collaborate

Through the collaboration, Quest will provide de-identified data, including phenotypic (a person’s observable traits), and blood, saliva, and buccal swab specimens it has tested for developmental delays using CMA and other tests. Broad will then perform WGS on the de-identified specimens to determine concordance between the methods.

Further reading: Quest’s New Predictive Gene Expression Test Aids Personalized Melanoma Treatment

The collaboration will also explore the potential of WGS to provide answers for Fragile X syndrome. Unlike CMA or exome sequencing, WGS can rule out Fragile X as a cause of developmental delay and signal the need for additional confirmatory testing in those whose results suggest it as a possible cause of developmental delay. 

Broad Clinical Laboratories, previously known as Clinical research sequencing platform, was founded in 2013 as a non-profit subsidiary of Broad Institute of MIT and Harvard to accelerate the genomics community and the world toward a better understanding, diagnosis, and treatment of disease by pursuing projects, developing products, and driving adoption of cutting edge -omics technologies and novel molecular assays.