A new study, named BabyFox, is underway to assess the impact of ultrafast whole-genome sequencing on the care of newborns in neonatal intensive care units (NICU). Led by Professor Ondřej Slabý at Brno University Hospital, the project aims to improve the prognosis for genetically determined diseases, particularly rare genetic disorders, which significantly contribute to mortality in neonatal and pediatric intensive care.
The BabyFox project will investigate the use of rapid whole-genome sequencing (rWGS), a novel method for early diagnosis of genetic diseases. This approach has the potential to transform the management of newborns and pediatric patients in the ICU by delivering preliminary whole-genome sequencing results within seven days of sample collection. To accelerate the interpretation process, the genomes of the patient's parents will also be sequenced, forming a "trio."
"Our goal is to evaluate the diagnostic and clinical yield of the rWGS trio in newborns and pediatric patients hospitalized in the ICU in a representative group of the Czech population. We know from similar studies from abroad that a causal diagnosis can be established in approximately 40% of patients, and in up to 80% of these cases, the diagnosis has an impact on subsequent care," said Prof. Slabý.
The 18-month study will enroll 60 patients and their parents, providing 180 genome samples. The impact on follow-up care will be categorized into changes in medication, surgical procedures, clinical trial enrollment, dietary measures, and palliative care transitions.
Patient selection will occur at three centers in the Czech Republic: the Paediatric Clinic of the Brno University of Applied Sciences and MU Faculty of Medicine; the Department of Biology and Medical Genetics of the 2nd Faculty of Medicine at Charles University and Motol University Hospital; and the Clinic of Pediatrics and Hereditary Conditions at the 1st Faculty of Medicine of Charles University and the Prague General University Hospital (VFN).
The BabyFox study is sponsored by Illumina and aligns with similar international projects like BabyLion in Germany, BabyBambi in Israel, and BabyBear in California. These programs have formed the Genomics in the Infant Intensive Care Setting (GiICS) European Consortium to address issues such as inclusion/exclusion criteria, harmonization of laboratory and bioinformatics procedures, standardization of reporting, and classification of clinical utility.
