Genomic sequencing was offered to a group of infants and children with complex medical problems likely to involve two or more body systems. This is the first time that sequencing has been provided to these patients as a first diagnostic test (rather than after other options have been exhausted).
Most complex medical conditions have an underlying genetic basis, are lifelong and incurable. These conditions cause diverse and severe health effects, with some children becoming acutely unwell.
Based on findings from the Alliance's Demonstration Project and other studies, it is anticipated that 30% to 60% of patients will receive a diagnosis through this project.
Click here for more information on Melbourne Genomics' complex care project.
Publications
"A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex paediatric patients", Alison Yeung, Natalie B. Tan, Tiong Y. Tan, Zornitza Stark, Natasha Brown, Matthew F. Hunter, Martin Delatycki, Chloe Stutterd, Ravi Savarirayan, George Mcgillivray, Rachel Stapleton, Smitha Kumble, Lilian Downie, Matthew Regan, Sebastian Lunke, Belinda Chong, Dean Phelan, Gemma R. Brett, Anna Jarmolowicz, Yael prawer, Giula Valente, Yana Smagarinsky, Melissa Martyn, Callum McEwan, Ilias Goranitis, Clara Gaff and Susan M. White, Genetics in Medicine (2020) https://doi.org/10.1038/s41436-020-0929-8
"A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis”, Tan, T., Lunke, S., Chong, B., Phelan, D., Fanjul-Fernandez, M., Marum, J. E., Kumar, V.S., Stark, Z., Yeung, A., Brown, N.J., Stutterd, N.J., Delatyki, M.B., Sadedin, S., Martyn, M., Goranitis, I., Thorne, N., Gaff, C.L., White, S.M., European Journal of Human Genetics (2019) doi.org/10.1038/s41431-019-0471-9
"Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes", Deborah Schofield, Luke Rynehart, Rupendra Shresthra, Susan M. White, and Zornitza Stark, Genetics in Medicine (2019) https://doi.org/10.1038/s41436-019-0534-x
"Meeting the challenges of implementing rapid genomic testing in acute pediatric care", Stark, Z., Lunke, S., Brett, G.R., Tan, N.B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D.G., Chong, B., Fanjul-Fernandez, M., Marum, J.E., Hunter, M., Jarmolowicz, A., Prawer, Y., Riseley, J.R., Regan, M., Elliott, J., Martyn, M., Best, S., Tan, T.Y., Gaff, C.L., White, S.M., Genetics in Medicine (2018) doi:10.1038/gim.2018.37