GeneDx Announces Collaboration with Epic Aura to Expand Access to Rapid Whole Genome Sequencing (rWGS) Services to Inform Diagnosis in Affected Pediatric and Neonatal Patients

-- New integration to streamline access for health systems and improve provider and patient journeys using Epic for electronic connections --

-- Increases commercial footprint and focus on accelerating utilization of rWGS services in neonatal intensive care units (NICUs) --

STAMFORD, Conn., June 10, 2024 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced that it is expanding access to its rapid whole genome sequencing (rWGS) services in neonatal intensive care units (NICUs) with leading health systems through a new collaboration with Epic. The integration with Epic expands GeneDx’s commercial strategy by connecting directly with health systems that use Epic’s EHR to receive orders and send results.

With more than 20 years of experience leading the industry in diagnosing children with rare diseases, including performing more than 80% of clinical exomes in the US today, GeneDx is increasing its focus to a rapidly growing segment of its business. GeneDx has seen an 80% year over year increase of its rapid testing business, and the payor landscape is rapidly evolving, with 11 states now offering Medicaid coverage and an increasing number of commercial payors adopting coverage policies for this critical testing. Patients will now have rWGS results seamlessly integrated into their single, comprehensive medical record, enabling providers to deliver more comprehensive patient care.

“Access to rWGS leads to improved patient outcomes by accelerating the timeline between diagnosis and treatment. As GeneDx continues to drive utilization of its whole exome sequencing in the outpatient setting, today’s announcement affirms our commitment to opening up access to our rWGS services for health system partners, providers, and families who are in need of diagnosing a baby in the NICU,” said Katherine Stueland, president and CEO. “Leveraging the world’s largest genomic data base in rare diseases, orders of magnitude larger than any other peer, we believe it’s the right time to lean in and improve solutions for our providers to deliver the best patient care.”

Foundation of Clinical Collaborations to Improve Patient Care

GeneDx is a key collaborator in SeqFirst, a study at the University of Washington examining the impact on care of broad access to routine rWGS in critically ill infants at Seattle Children's Hospital.  The study explores equitable approaches for a precise rapid genetic diagnosis at the initial point of care for critically ill infants and unlocks more opportunities to scale testing in clinical care settings that serve diverse communities with varied levels of infrastructure for providing clinical genetic services.

"Rapid whole genome sequencing is a groundbreaking advancement for neonatal care, especially for critically ill babies in the NICU,” said Mike Bamshad, M.D., SeqFirst principal investigator and professor and head of genetic medicine in the department of pediatrics at the University of Washington and Seattle Children's Hospital. “The ability to pinpoint genetic conditions early opens the door to improved clinical management, targeted therapies and can lead to improved outcomes for our youngest and most vulnerable patients. By integrating this technology routinely into patient care, we deliver a faster diagnosis, increasing the potential for timely and effective treatments, and providing families with critical information to better anticipate the needs of their child.”

GeneDx is committed to ensuring all patients who can benefit from exome and genome testing have access and continues to invest in understanding clinical utility in broader patient populations. Through its support of the GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) study the Company is understanding the utility of genomic screening healthy newborns not currently included in standard newborn screening. Initial data from the study found that of the 1,000 newborns enrolled, true positive screening outcomes were present in 2.6 percent of newborns. Wide adoption of standard WGS at birth can lead to accelerated diagnosis helping to prevent or prevent the progression of rare disease in pediatric patients.

With more than 600,000 clinical exomes and genomes sequenced and over 100,000 mitochondrial genomes GeneDx has built one of the largest and most sophisticated proprietary genomic datasets. This industry leading dataset enables GeneDx to deliver more definitive answers and clinically actionable results faster to help ensure better health outcomes for patients.

About GeneDx:
GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit and connect with us on LinkedIn, Facebook, and Instagram.