Emergency sequencing of entire genomes in the neonatal period is rare, and yet the rapidity of genetic examinations is a crucial factor when diagnoses are needed in emergency settings, such as certain rare diseases discovered in the neonatal period or notable for rapid progression. Teams from the Dijon Bourgogne University Hospital, Inserm and the CEA recently carried out a pilot study called Fastgenomics¹ on the feasibility of emergency high throughput genome sequencing within the framework of Genomic Medicine France 2025². 

In their study, close to 30 newborns admitted to neonatal intensive care in eight AnDDI-rares³ teaching hospitals benefited from emergency genomic analyses. High throughput genome sequencing and primary bioinformatics analyses for the newborns and their parents were performed at the CEA-CNRGH's sequencing facilities in partnership with the CEA's High Performance Computing Center (TGCC) and the University of Burgundy's calculations center (CCuB). The interpretation of the genome data was performed by the TRANSLAD University Hospital Federation (FHU) in close partnership with the Inserm U1231 GAD research team. The collective mobilization of these contributors enabled the delivery of analysis results in only 38 to 49 days. That time frame is particularly short compared to the current delay for genetic diagnoses in France, i.e., 18 months on average and up to five years for 25% of patients. The rapid genomic analyses led to diagnoses for two-thirds and accelerated, targeted treatments for one-third of the newborns included in the pilot study.

The rapidity of those genomic analyses was made possible by next-generation technologies in high throughput DNA sequencing that enable the study of an individual's entire genome. Deployed at the CNRGH, These state of the art technologies have become tools of choice for the study of rare diseases, and have already enabled the identification of genes involved in numerous pathologies. 

This result has been shared through a press release.

1 - Fastgenomics is a pilot study developed by the national health network AnDDI-rares, the TRANSLAD University Hospital Federation and the CEA-CNRGH, with financial support from Sanofi-Genzyme.

2 - The Genomic Medicine France 2025 plan (PFMG2025) was launched in 2019 with the objectives of deploying high throughput sequencing facilities to enable genomic analyses for the diagnosis of rare diseases, and defining protocols for the prescription of such examinations.