Rapid genomic testing for critically ill children: time to become standard of care?

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.

Fig. 1. Framework to facilitate the identification of critically ill newborns and children who may benefit from rapid genomic testing.

The framework provides examples of common clinical presentations suggestive of syndromic, metabolic, neurological and other rare disorders and the probability of identifying an underlying genetic condition, to help guide test initiation (developed by the Australian Genomics Acute Care study, modified with permission from Baynam [32] etc…).