The BabyFox project, led by Professor Ondřej Slabý, head of the Centre for Precision Medicine at the Brno University Hospital (FN Brno), the Department of Biology at the Faculty of Medicine of Masaryk University (LF MU) and the CEITEC MU research group, is examining new approaches regarding the improvement in prognosis for genetically determined diseases and especially rare genetic disorders, which are a significant factor in mortality in neonatal and paediatric intensive care units. This phenomenon is encountered worldwide and similar projects are in preparation in multiple countries.
The BabyFox project hopes to shed more light on ultra-fast or rapid whole-genome sequencing (rWGS). This is a new method of early diagnosis of genetic diseases that has the potential to revolutionise the management of newborns and paediatric patients in the intensive care unit by providing a preliminary result of whole-genome sequencing within seven days from the collection of biological material. In order to speed up the process of interpretation as well, the genomes of the patient’s parents will be sequenced in the so-called trio. The project will span a period of 18 months and a group of 60 patients and their parents will be enrolled, providing a selection of 180 samples of genomes to work with.
“Our goal is to evaluate the diagnostic and clinical yield of the rWGS trio in newborns and paediatric patients hospitalised 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. He added that the impact on the follow-up care will be divided into five main categories: change in medication, performing/cancelling a surgical procedure, entry into a clinical trial, dietary measures, but unfortunately also transition to palliative care.
The Center for Precision Medicine of the Brno University of Applied Sciences is coordinating the prospective BabyFox study, and it is also there that the whole-genome sequencing is taking place. The selection of patients will take place in three centres 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 research team worked for more than a year to prepare the project in order to succeed with the application as part of the international evaluation. The study is sponsored by Illumina. Similar focused projects are already underway in other countries, such as BabyLion in Germany, BabyBambi in Israel, and BabyBear in California. As a result, the coordinators of these programs put together the informal Genomics in the Infant Intensive Care Setting (GiICS) European Consortium, which has the duty of resolving issues of inclusion/exclusion criteria, harmonisation of laboratory and bioinformatics procedures, standardisation of reporting of findings, definition and classification of clinical utility, and so on.
The BabyFox research team is composed of the principal investigator, Prof. Slabý, clinical coordinator at MU Dr. Katerina Slabá, a representative of the Genomics laboratory, Petra Pokorná; representatives of Motol FN Center: Prof. Milan Macek and Dr. Miroslava Balaščaková, and from VFN, Prof. Tomáš Honzík
