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Rapid genomic testing for critically ill children: time to become standard of care?
Zornitza Stark1,2,3, Sian Ellard4,5
1Australian Genomics, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.
Insights
Rapid genomic testing significantly improves rare disease diagnosis for critically ill children, offering real-time results for better patient care. Evidence supports its implementation as a standard of care, enhancing outcomes and family support.
Area of Science:
- Genomics
- Rare Diseases
- Neonatal and Paediatric Critical Care
Background:
- Rapid genomic testing has emerged as a transformative tool in diagnosing rare diseases in critically ill neonates and children.
- A substantial body of evidence, comprising over 20 studies and 1500 patients globally, supports its clinical utility.
Purpose of the Study:
- To review diagnostic and clinical outcomes of rapid genomic testing in critically ill infants and children.
- To evaluate family and professional experiences, cost-effectiveness, implementation challenges, and bioethical considerations.
- To inform the transition of rapid genomic testing from research to a standard of care.
Main Methods:
- Systematic review of published studies on rapid genomic testing in neonatal and paediatric critical care.
- Analysis of diagnostic yield, clinical outcomes, and patient/professional experiences.
- Evaluation of implementation factors, cost-effectiveness, and ethical issues.
Main Results:
- Rapid genomic testing provides real-time results, significantly impacting patient management and diagnosis in rare diseases.
- Studies demonstrate positive diagnostic and clinical outcomes, alongside valuable insights into patient and professional experiences.
- Implementation requires robust service delivery models addressing scalability, equity, and multidisciplinary support.
Conclusions:
- Rapid genomic testing is a vital component of modern critical care for rare disease diagnosis in children.
- Effective service delivery models are crucial for widespread adoption and equitable access.
- Integration with precision medicine is key to reducing infant and child mortality.
Abstract:
Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to inform patient management. More than 20 studies totalling over 1500 patients from diverse healthcare settings worldwide have now been published, forming a compelling evidence base for healthcare system implementation. We review the reported diagnostic and clinical outcomes, as well as broader evaluations of family and professional experiences, cost effectiveness, implementation challenges and bioethical issues arising from rapid testing. As rapid genomic testing transitions from the research to the healthcare setting to become a 'standard of care' test, there is a need to develop effective service delivery models to support scalability at both the laboratory and clinical level and promote equity of access, prompt test initiation, integrated multidisciplinary input and holistic family support. Harnessing the high level of professional engagement with rapid genomic testing programmes will continue to drive innovation and adoption, while close integration with emerging precision medicine approaches will be necessary to deliver on the promise of reduced infant and child mortality.
