Science and Technology

Pioneering Research Collaboration Aims to Revolutionize Genetic Testing for Developmental Disorders

SECAUCUS, N.J., April 2, 2024 /PRNewswire/ -- Under the auspices of hastening the diagnosis process and potentially reducing costs, Quest Diagnostics, a pioneer in providing diagnostic information services, has partnered with Broad Clinical Labs, a global authority on whole genome sequencing (WGS), to initiate a research project. This ambitious partnership aims to establish the clinical effectiveness of utilizing WGS as a foundational genetic test for newborns faced with developmental challenges.

Harnessing the Power of Genome Sequencing for Quicker Diagnosis

The core objective of this partnership is to exhibit how WGS could deliver diagnostic insights as accurate as those yielded by the various traditional tests currently employed by medical professionals. By consolidating the results into a single blood test, they intend to eliminate the need for multiple doctor's visits and laboratory tests, making the diagnosis process more efficient.

"We are thrilled to combine Broad Clinical Labs' significant expertise with Quest's innovative approach to this venture. We are confident that the genome’s potential can be unleashed to formulate numerous research, screening, and diagnostic examinations, inevitably benefitting patients and healthcare providers," 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.

Mark Gardner, Senior Vice President at Quest Diagnostics who specializes in Molecular Genomics and Oncology, also commented on the collaboration's potential. "WGS has the capability to reframe the conventional diagnostic blueprint, thereby granting physicians expedited access to genetic insights at earlier stages in a patient’s diagnostic quest," he stated. "The amalgamation of Broad’s leadership in genomic science and Quest’s proficiency in mass-scale laboratory testing provides an exceptional foundation to unlock the promise of WGS in supplanting the traditional diagnostic regimen."

Collaboration Focused on Advancing the Genetic Testing Field

This initiative joins forces to combine phenotypic information—observable traits—with genotypic data sharing, which could significantly enhance the interpretation of genomic tests and deepen our understanding of developmental delays. Heidi Rehm, Ph.D., FACMG, who serves as both the Medical Director of Broad Clinical Labs and the Chief Genomics Officer of Massachusetts General Hospital, pointed out the importance of partnerships like these. According to Dr. Rehm, collaborations between commercial labs and research institutions are crucial for the progress of genetic testing, as well as for increasing its utility and economic importance.

A Revolutionary Model to Streamline Diagnostic Processes

The current diagnostic journey for children exhibiting intellectual disabilities can be long and arduous—it may span from weeks to years to pinpoint the root cause. As nearly 2% of children exhibit intellectual disabilities, there is a dire need for a new approach. Promptly identifying an accurate diagnosis is pivotal, as underscored by the American College of Medical Genetics and Genomics, since it can directly impact the management of the condition, improving mortality and morbidity rates, and lessening the emotional and financial toll on families in pursuit of answers.

Despite recommendations from the ACMG endorsing WGS as the principal genetic test for intellectual disabilities and developmental delays, some medical providers still adhere to older guidelines that favor chromosomal microarray (CMA). CMA, although widely used, is deemed less comprehensive than WGS. In cases where CMA returns negative results, additional, more specific genetic testing may be required, prolonging the diagnostic pathway even further.

Gardner emphasized that as the prospect of a cost-efficient $100 genome draws nearer, it is imperative to reevaluate the application and reimbursement strategies of genetic testing and to ultimately abbreviate the often exhaustive diagnostic journey confronted by affected children and their kin.

Quest Diagnostics will contribute to this study by providing anonymized data—including phenotypic details—and biological samples like blood, saliva, and buccal swabs previously analyzed for developmental delays through CMA and other testing methods. Broad will administer WGS on these anonymous specimens to assess the agreement between the different diagnostic approaches.

Furthermore, this union of forces will investigate the capability of WGS to deliver conclusive results for conditions like Fragile X syndrome. WGS has the distinct advantage of being able to exclude Fragile X syndrome as a cause of developmental delay, unlike CMA or exome sequencing, and cues the need for further confirmatory tests in cases where Fragile X syndrome is indicated as a probable cause.

Broad Clinical Labs: A Vanguard in Human Genome Sequencing

Once known as the Clinical Research Sequencing Platform, Broad Clinical Labs was established in 2013 as a non-profit subsidiary of the Broad Institute of MIT and Harvard. Their mission is to fast-track the global genomic community toward a more robust comprehension, diagnosis, and treatment of diseases by engaging in groundbreaking projects, creating innovative products, and fostering the adoption of advanced -omics technologies and molecular assays.

Broad Clinical Labs takes a leading role in human WGS, having sequenced over 600,000 genomes in its quest to expedite the understanding and diagnosis of human diseases. A visit to their official website offers a glimpse into their extensive work and pioneering research efforts in this field: www.broadclinicallabs.org.

Quest Diagnostics: Empowering the Healthcare Landscape

Quest Diagnostics operates with the vision of fostering a healthier world, impacting one life at a time. By delivering diagnostic insights from their laboratory tests, they enable individuals, physicians, and organizations to enact informed decisions, ultimately enhancing health outcomes. Leveraging one of the world's largest databases of anonymized clinical lab results, Quest Diagnostics’ insights pave new pathways for disease identification and management, promote healthier lifestyles, and refine healthcare administration.

Serving one in three adult Americans annually, along with half of the United States' physicians and hospitals, Quest Diagnostics’ nearly 50,000 dedicated employees recognize that when placed in the right hands and provided with the contextual backdrop, their diagnostic insights can empower transformative actions and engender a healthier society. For further information about Quest Diagnostics and their impact on healthcare, visit www.QuestDiagnostics.com.

In conclusion, the collaborative research between Quest Diagnostics and Broad Clinical Labs signifies a step forward in reforming the diagnostic procedures for developmental delay disorders. Through the application of WGS, the partnership endeavors to streamline the diagnosis process, offering quicker, more precise insights into a child’s genetic profile. This revolutionary approach not only holds the potential to alleviate the burdens on healthcare systems but also promises to ease the emotional and financial strains on families. The outcomes of this research could well be a turning point in the field of genetic testing, contributing to a future where rapid and accurate diagnoses are not an odyssey but a standard practice.