Publication
Project Baby Panther -assessment of the implementation of the rapid Whole Genome Sequencing as routine diagnostic toll for critically ill neonates and children in Austria
Zaminer M, Schreiner E, Bierbaumer S, Blatterer J, Hammer S, Kaufmann L, Kuhberger S, Tichy H, Wagner-Skacel J, Holter M, Eber E, Wagner K, Verheyen S · European Journal of Human Genetics · 2025
Background: In critically ill neonates and children, accurate and timely diagnosis is needed to enable targeted treatments, decisions on palliative care and to avoid unnecessary invasive procedures. Exome analysis has become the indispensable diagnostic gold standard. We aim to assess feasibility and utility of rapid trio Whole Genome Sequencing (rtWGS) as a routine diagnostic method in the Austrian healthcare system. Material(s) and Method(s): Within two years, we will include 130 patients and their parents who consent to receive rtWGS. Parents and medical personnel are surveyed on psychological well-being and satisfaction with genetic testing. Clinical utility of the genetic testing results is assessed using a questionnaire including the C-Guide (Genetics in Medicine (2022) 24, 430-438). Primary and secondary endpoints include diagnostic yield, time to diagnosis, hospital stay duration, and therapeutic changes. Implementation aspects involve personnel requirements, workload analysis, and time from blood sampling to report generation. Families who fulfil the inclusion criteria and decide not to receive rtWGS (standard diagnostic analysis or no genetic analysis) can still be enrolled to answer the survey. Referring clinicians will receive a questionnaire to assess their attitude towards genome analysis. Result(s): Conclusion(s): We expect that the study will enable a better assessment of the diagnostic effort, personal and clinical benefits of rtWGS in the health care of seriously ill newborns and children in Austria.
Synced from the TRENDS in Pediatric Palliative Care Zotero library, curated by The Siden Research Team. ICPCN does not host or verify the full text.