Quest Diagnostics and Broad Clinical Labs announce collaboration

Quest Diagnostics and Broad Clinical Labs announced a research collaboration designed to demonstrate the clinical value of whole genome sequencing , or 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. 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, or 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. Through the collaboration, Quest will provide de-identified data, including phenotypic, 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.