The François Jacob Institute of Biology brings together five departments and three services
The last two years in scientific news
Highlight | News | Scientific result | Genetic diseases | Diagnosis
In their work entitled Fastgenomics, the Dijon Bourgogne University Hospital, Inserm and the CEA's National Center of Human Genomics Research (CNRGH) studied a rapid high-throughput genome sequencing process in 30 hospitalized newborns. The team was able to reduce the time needed for this process from an average of 18 months to only a month and a half at most (38 to 49 days), thus enabling rapid diagnoses for two-thirds of the patients.
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.
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.
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
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.
CEA is a French government-funded technological research organisation in four main areas: low-carbon energies, defense and security, information technologies and health technologies. A prominent player in the European Research Area, it is involved in setting up collaborative projects with many partners around the world.