GeneDx launches ultraRapid Whole Genome Sequencing for critical paediatric care
GeneDx has introduced ultraRapid Whole Genome Sequencing technology that delivers diagnostic results for critically ill neonatal and paediatric patients in as little as 48 hours, potentially saving healthcare systems over $15,000 per child while significantly improving clinical outcomes.
Accelerating diagnosis in intensive care settings
The newly announced ultraRapid Whole Genome Sequencing service, available from March 2025, represents a significant advancement in diagnostic capabilities for the most vulnerable patients. The technology specifically targets neonatal intensive care unit (NICU) and paediatric intensive care unit (PICU) settings, where rapid identification of genetic disorders can dramatically alter treatment plans and outcomes.
According to GeneDx’s Chief Medical Officer, Paul Kruszka, MD, FACMG: “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.”
Current research indicates that genetic diseases are the leading identifiable cause of infant mortality, yet testing remains severely underutilised. While up to 25% of NICU patients are estimated to have genetic disorders, fewer than 5% currently undergo genetic testing.
Clinical impact and economic benefits
The ultraRapid sequencing technology addresses multiple healthcare challenges simultaneously. For infants who do not receive timely genetic diagnoses, NICU stays typically extend by 15-20 days, significantly increasing healthcare costs and family distress.
The expedited results from ultraRapid sequencing can inform critical treatment decisions when time is most precious. Clinical management can be positively impacted for more than 60% of critically ill infants who receive genomic testing, translating to substantial healthcare savings exceeding $15,000 per patient.
These financial benefits stem from reduced unnecessary treatments, shortened hospital stays, and more targeted therapeutic interventions based on precise genetic information.
Technology and implementation
GeneDx has optimised numerous laboratory processes to achieve the remarkable turnaround time, including automated sequencing workflows and enhanced analytical algorithms. The company’s extensive experience sequencing over 750,000 exomes and genomes has facilitated these efficiencies.
From March, the ultraRapid genome will be available through the GeneDx portal and via integration with Epic Aura, enabling more seamless ordering for healthcare systems. This integration aims to expand access to critical genetic testing for more patients who could benefit.
The ultraRapid genome complements GeneDx’s existing comprehensive genomic testing portfolio, which includes exome sequencing, standard genome sequencing, and rapid genome options.
Bridging the diagnostic gap
Dr Kruszka emphasised the responsibility of the broader healthcare ecosystem to recognise the value of timely genetic testing: “It is incumbent upon clinicians, health systems, policy makers and payors, to recognise the benefits of this testing and offer it to more patients.”
The development aligns with growing evidence supporting early genetic diagnosis in paediatric settings. Multiple studies have demonstrated that rapid genomic sequencing can transform care for critically ill children by:
- Providing definitive diagnoses for rare and complex conditions
- Eliminating unnecessary diagnostic procedures
- Guiding specific therapeutic interventions
- Informing accurate prognoses for families and care teams
This technology represents a critical step toward addressing the substantial gap between patients who would benefit from genetic testing and those who currently receive it.
- For more information, visit: https://www.genedx.com/exome-sequencing
