Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R Jackson, Hamish S Scott, Stefanie Eggers, Simone Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R Brett, Michelle G de Silva, Amanda Springer, Michelle Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J Van Bergen, Tim Sikora, Liana N Semcesen, David A Stroud, Alison G Compton, David R Thorburn, Katrina M Bell, Simon Sadedin, Kathryn N North, John Christodoulou, Zornitza Stark
Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome sequencing to 290 families whose critically ill infants and children were admitted to hospitals throughout Australia with suspected genetic conditions. The average time to result was 2.9 d and diagnostic yield was 47%. We performed additional bioinformatic analyses and transcriptome sequencing in all patients who remained undiagnosed...
July 2023: Nature Medicine