Chen Du is a medical geneticist at the Institute of Human Genetics at Hannover Medical School, Germany, with a focus on diagnostics testing for rare diseases by genome sequencing. She has been working with Dr. Bernd Auber on ultra-rapid genome sequencing in critically ill children, a project termed “baby lion” study. Prior to that, she was a postdoctoral fellow at the National Institutes of Health, Bethesda, Maryland, USA. During a fellowship at the Undiagnosed Diseases Program of the National Human Genome Research Institute, she analyzed features of exome sequencing data. She received her medical training at the University of Heidelberg, Germany, and the Karolinska Institutet, Sweden.

Impact of Rapid Genomic Testing on Clinical Management of Patients with Rare Genetic Disorders in Neonatal and Pediatric Intensive Care Units

Rare genetic disorders significantly contribute to morbidity and mortality in children. Here we investigate the feasibility and clinical impact of rapid genomic testing in the management of these complex cases. In our multicenter “Baby Lion” study, we conducted ultra-rapid genome sequencing on 130 children admitted to neonatal or pediatric intensive care units across 14 German hospitals, including ten hospitals without inhouse genetics department. Eligibility was determined through interdisciplinary case conferences, focusing on patients with suspected genetic causes for their health conditions. Trio or duo genome sequencing was performed, and clinical utility was assessed using the C-GUIDE survey. In this talk, I will present the results of the “Baby Lion” study, which underscore the relevance of ultra-rapid genome sequencing (< 3 days turn-around time) in guiding clinical decision-making. Furthermore, the study demonstrates successful recruitment of eligible patients across various hospitals, even those without a genetics department, highlighting the potential for interdisciplinary case conferences with a primary genetic center to expand the accessibility and utility of rapid genomic testing.