GeneDx unveils ultrarapid whole genome sequencing for critical paediatric care
GeneDx has unveiled an ultrarapid whole genome sequencing service delivering diagnostic results for critically ill neonatal and paediatric patients within 48 hours. This technological advancement could potentially generate healthcare savings exceeding $15,000 per child while significantly enhancing clinical outcomes through earlier intervention.
Transforming diagnosis in intensive care environments
The newly announced ultraRapid Whole Genome Sequencing service, scheduled for availability from March 2025, represents a significant advancement in diagnostic capabilities for vulnerable paediatric populations. The technology specifically targets neonatal intensive care unit (NICU) and paediatric intensive care unit (PICU) settings, where rapid identification of genetic disorders can fundamentally alter treatment trajectories. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx, explains: “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 epidemiological data indicates genetic diseases remain the leading identifiable cause of infant mortality, yet diagnostic testing is significantly underutilised. While approximately 25% of NICU patients are estimated to have underlying genetic disorders, fewer than 5% currently under-go comprehensive genetic assessment.
Clinical efficacy and economic implications
For infants who experience delayed genetic diagnosis, NICU stays typically extend by 15-20 days, substantially increasing healthcare expenditure and family psychological burden. The expedited diagnostic timeline offered through ultraRapid sequencing provides critical genetic information precisely when clinical decision-making is most time-sensitive.
Research demonstrates that clinical management can be positively modified for more than 60% of critically ill infants receiving genomic testing. This translates to quantifiable healthcare savings exceeding £15,000 per patient through reduced unnecessary interventions, shortened hospitalisation periods, and implementation of targeted therapeutic approaches based on precise genetic information.
Technical methodology and implementation framework
GeneDx has engineered numerous laboratory workflow optimisations to achieve this remarkable diagnostic turnaround time, incorporating automated sequencing protocols and enhanced bioinformatic algorithms. The company’s extensive experience analysing over 750,000 exomes and genomes has facilitated these technical efficiencies. Beginning March 2025, the ultraRapid genome service will be accessible through the GeneDx clinician portal and via integration with Epic Aura electronic medical record systems, enabling streamlined ordering processes for healthcare institutions. This integration framework aims to expand access to critical genetic testing for appropriate clinical cases. The ultraRapid genome complements GeneDx’s existing genomic testing portfolio, which includes comprehensive exome sequencing, standard genome sequencing, and rapid genome options.
Addressing the diagnostic implementation gap
Dr Kruszka emphasised the collective responsibility of healthcare stakeholders to recognise the clinical utility of timely genetic assessment: “It is incumbent upon clinicians, health systems, policy makers and payors, to recognise the benefits of this testing and offer it to more patients.”
This technological development aligns with growing evidence supporting early genetic diagnosis in acute paediatric settings. Multiple peer-reviewed studies have demonstrated that rapid genomic sequencing can transform care for critically ill children by:
• Establishing definitive molecular diagnoses for rare and complex conditions
• Eliminating unnecessary diagnostic procedures
• Informing targeted therapeutic interventions
• Providing accurate prognostic information for families and clinical teams
The introduction of ultraRapid Whole Genome Sequencing represents a significant advancement toward addressing the substantial implemen-tation 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
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