Young children with features suggestive of a single gene disorder (145 children in total; 101 aged 0-2 years; 44 aged 2+ years).

Overall, there were 7 times more diagnoses compared with usual care:  that is, the diagnosis rate was raised from 8% to 54%.

For patients aged 0 to 2 years, 5 times more diagnoses were made, at less than half the cost per diagnosis to the healthcare system.

For 28% of diagnosed patients, there was improved and more tailored medical care. 

Among diagnosed patients’ relatives, 13 individuals received a genetic diagnosis.

A follow-up study was completed during the 2016 to 2020 phase of work. For more on the project, read the summary here.

Publications

"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

"Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness", Stark, Z., Schofield, D., Martyn, M., Rynehart,L., Shrestha, R., Alam, K., Lunke, S., Tan, T.Y., Gaff, C.L., White, S.M., Genetics in Medicine (2018) doi:10.1038/s41436-018-0006-8

"Exome Sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders", Dillon, O., Lunke, S., Stark, Z., Yeung, A., Thorne, N., Gaff, C., White, S., Tan, T., European Journal of Human Genetics  (2018) doi:10.1038/s41431-018-0099-1

"Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions", Tan, T.Y., Dillon, O.J., Stark, Z., Schofield, D., Alam, K., Shrestha, R., Chong, B., Phelan, D., Brett, G.R., Creed, E.,  Jarmolowicz, A., Yap, P., Walsh, M., Downie, L., Amor, D.A.,  Savarirayan, R., McGillivray, G., Yeung, A., Peters, H., Robertson, S.J., Robinson, A.J., Macciocca, I., Sadedin, S., Bell, K., Oshlack, A., Georgeson, P., Thorne, N., Gaff, C., White, S.M, JAMA Pediatrics (2017)  doi:10.1001/jamapediatrics.2017.1755 

“Prospective comparison of the cost-effectiveness of the clinical whole exome sequencing to usual care overwhelmingly supports early use and reimbursement”, Stark, Z., Schofield, D., Alam, K., Wilson, W., Mupfeki, N., Macciocca, I., Shrestha, R., White, S.M., Gaff, C., Genetics in Medicine (2017) doi:10.1038/gim.2016.221

"A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders", Stark, Z., Tan, T.Y.,  MD, Chong, B., Brett, G.R., Yap, P., Walsh, M., Yeung, A., Peters, H., Mordaunt, D.,  Cowie, S., Amor, D.J., Savarirayan, R., McGillivray, G., Downie, L., Ekert, P.G., Theda, C., James, P.A., Yaplito-Lee, J., Ryan, M.M., Leventer, R.J., Creed, E., Macciocca, I., Bell, K.M., Oshlack, A., Sadedin, S., Georgeson, P., Anderson, C., Thorne, N., Melbourne Genomics Health Alliance, Gaff, C., White, S.M., Genetics in Medicine (2016) doi:10.1038/gim.2016.1

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