Quest Diagnostics and Broad Clinical Labs to Evaluate Whole Genome Sequencing as First-Line Genetic Test for Developmental Delay
- Quest Diagnostics partners with Broad Clinical Labs to explore the clinical benefits of WGS for developmental delay disorders.
- WGS may streamline the diagnostic process, offering accurate genetic insights from a single blood test.
- The collaboration aims to demonstrate that WGS can replace conventional tests, reducing the time and cost of diagnosis.
- The research initiative involves sharing phenotypic and genotypic data to enhance genomic test interpretation and understanding of developmental delay.
- The collaboration also focuses on exploring the potential of WGS in diagnosing Fragile X syndrome.
- Broad Clinical Labs, a leader in human whole genome sequencing, aims to accelerate disease understanding and diagnosis through cutting-edge genomics technologies.
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The partnership between Quest Diagnostics and Broad Clinical Labs to validate whole genome sequencing (WGS) as a primary diagnostic tool for developmental delays has significant implications for the healthcare industry. WGS has the potential to streamline the diagnostic process by providing comprehensive genetic information from a single test, which could reduce the time and expense associated with the current multi-test approach.
From a medical research perspective, the collaboration's focus on integrating phenotypic and genotypic data could enhance the accuracy of genetic tests. This integration is important for understanding complex developmental disorders, as it allows for a more holistic view of the patient's condition. If WGS can be established as a reliable first-line test, this could shift the current medical practice, which often relies on chromosomal microarray (CMA) and subsequent tests if CMA results are inconclusive.
Furthermore, the economic implications of such a shift could be substantial. If WGS can shorten the 'diagnostic odyssey' for patients, this could lead to earlier interventions, potentially improving patient outcomes and reducing long-term healthcare costs. However, the transition to WGS as a standard practice would require changes in reimbursement policies and widespread acceptance in the medical community.
The economic impact of adopting WGS as a standard diagnostic tool cannot be overstated. Currently, the diagnostic journey for children with developmental delays can be lengthy and costly, involving multiple tests and specialist consultations. By potentially replacing the standard diagnostic cascade with WGS, the healthcare system could see a reduction in direct costs associated with sequential testing and indirect costs such as parental time off work and the emotional toll on families.
However, the upfront cost of WGS, despite falling prices, still represents a significant investment. It is essential to conduct cost-benefit analyses to determine whether the long-term savings justify the initial expenditure. Moreover, insurance coverage for WGS will play a pivotal role in its adoption. Insurers will need evidence of cost-effectiveness and clinical utility before they consider revising reimbursement policies to favor WGS over traditional testing methods.
In the long run, if WGS can indeed provide faster and more accurate diagnoses, the shift could lead to more personalized and effective management of developmental disorders, potentially reducing the lifetime cost of care for affected individuals. This would not only be a win for patients and their families but could also alleviate some of the financial strain on the healthcare system.
The strategic alliance between a leading diagnostic information service provider and a renowned genomics institution represents a forward-thinking approach to healthcare innovation. The genomics industry is poised for growth, as technological advancements make genome sequencing more accessible and cost-effective. The collaboration's goal to establish WGS as a first-line test could catalyze a shift in the industry, setting a new standard for genetic testing.
An important aspect to consider is the technological capability required to handle the vast amounts of data generated by WGS. This necessitates robust bioinformatics infrastructure and expertise, which could create opportunities for companies specializing in data analysis and storage. Additionally, the increased use of WGS could spur further innovation in genomic technologies and bioinformatics solutions.
It is also critical to monitor the market's response to this initiative. If successful, the collaboration could lead to increased demand for WGS, benefiting stakeholders across the genomics industry. Conversely, companies that specialize in traditional genetic testing methods may need to adapt to remain competitive. Overall, this research collaboration could be a harbinger of transformative change in genetic diagnostics, with broad implications for the genomics industry.
Aim to demonstrate whole genome sequencing can replace the standard diagnostic cascade, for potentially faster diagnosis and lower costs
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
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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.
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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
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