Ultrarapid Whole Genome Sequencing for Neonatal and Pediatric Patients Delivers Results In 48 Hours

Genetic diseases are the leading identifiable cause of infant mortality, and early diagnosis is crucial to improve patient outcomes. In the neonatal and pediatric intensive care units (NICU and PICU), genetic disorders affect up to 25% of patients, but less than 5% of these patients receive genetic testing. For each baby who does not receive a genetic diagnosis, their stay in the NICU is typically 15 to 20 days longer. This delay in diagnosis not only impacts the care of the child but also increases healthcare costs significantly. The availability of faster, more accurate genomic testing could potentially reduce these delays, shorten hospital stays, and lead to more effective treatment strategies. To address this gap, a new ultra-rapid genome sequencing test has been developed to deliver faster and more comprehensive genomic insights in as little as two days.

GeneDx (Stamford, CT, USA) has created ultraRapid Whole Genome Sequencing, an accelerated genomic testing platform designed to provide faster, clinically actionable results for critically ill neonatal and pediatric patients in the NICU and PICU. This technology leverages the company’s advanced sequencing and automation capabilities, honed from sequencing over 750,000 exomes and genomes. By optimizing lab processes, the ultraRapid test enables efficient sequencing, analysis, and interpretation of genetic data, making it possible to deliver results much more quickly than traditional genetic tests. The ultraRapid genome test is designed to offer insights on genetic disorders within just two days, dramatically reducing the time to diagnosis and facilitating earlier clinical decision-making.

The ultraRapid genome test has been validated through extensive use and data from GeneDx’s platform. With this new approach, the test has been proven to reduce unnecessary treatments, shorten hospital stays, and generate significant healthcare savings, estimated at over $15,000 per patient who receives genome sequencing. This faster approach to genomic testing is expected to drive greater adoption of genetic testing in neonatal and pediatric care, offering improved clinical management for more than 60% of critically ill infants. In addition to shortening the diagnostic odyssey, GeneDx plans to expand access to this testing through its integration with health systems like Epic Aura, making it easier for clinicians to offer this test to a broader group of patients.

“Offering an ultraRapid genome is a testament to GeneDx’s commitment to shorten, and hopefully one day eliminate, the diagnostic odyssey for patients and their families,” said Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “GeneDx’s ultraRapid genome will deliver critical information to patients, providers, and families at times when they need it most."

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