Aim to demonstrate whole genome sequencing can
replace the standard diagnostic cascade, for potentially faster
diagnosis and lower costs
SECAUCUS, N.J., April 2,
2024 /PRNewswire/ -- Quest Diagnostics (NYSE:
DGX), a leader in diagnostic information services, and Broad
Clinical Labs, the world expert in whole genome sequencing (WGS),
today 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.
"We are delighted to bring the experience and expertise of Broad
Clinical Labs to this innovative collaboration with Quest. We
believe that the genome is a platform upon which many research,
screening, and diagnostic tests can be built resulting in benefits
for patients and providers alike," said Niall J. Lennon, Ph.D., Chief Scientific Officer
of Broad Clinical Labs and Senior Director of Genomics at the Broad
Institute of MIT and Harvard.
"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,"
said 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."
"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," said Heidi Rehm,
Ph.D., FACMG, Medical Director of Broad Clinical Labs, and Chief
Genomics Officer of Massachusetts General Hospital. "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."
Creating a New Testing Model to Simplify and Speed Diagnosis
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," Mr. Gardner
added.
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.
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.
Broad Clinical Labs is a leader in human whole genome
sequencing, having sequenced over 600,000 genomes in service of its
mission to accelerate the understanding and diagnosis of human
disease. www.broadclinicallabs.org
About Quest Diagnostics
Quest Diagnostics works across
the healthcare ecosystem to create a healthier world, one life at a
time. We provide diagnostic insights from the results of our
laboratory testing to empower people, physicians and organizations
to take action to improve health outcomes. Derived from one of the
world's largest databases of deidentified clinical lab results,
Quest's diagnostic insights reveal new avenues to identify and
treat disease, inspire healthy behaviors and improve healthcare
management. Quest Diagnostics annually serves one in three adult
Americans and half the physicians and hospitals in the United States, and our nearly 50,000
employees understand that, in the right hands and with the right
context, our diagnostic insights can inspire actions that transform
lives and create a healthier world. www.QuestDiagnostics.com.
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