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Evidence for genomics

"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

 "A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy."   Max Catchpool, Jay Ramchand, Melissa Martyn, David L. Hare,  Paul A. James,  Alison H. Trainer, Josh Knight, and Ilias Goranitis, Genetics in Medicine (2019) https://doi.org/10.1038/s41436-019-0582-2

"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

"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 

"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

“Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy”, Walsh, M., Bell, K.M., Chong, B., Creed, E., Brett, G.R., Pope, K., Thorne, N.P., Sadedin, S., Georgeson, P., Phelan, D.G., Day, T., Taylor, J.A., Sexton, A., Lockhart, P.J., Kiers, L., Fahey, M., Macciocca, I., Gaff, C.L., Annals of Clinical and Translational Neurology (2017) doi.org/10.1002/acn3.409

“Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy”, Perucca, P., Scheffer, I.E., Harvey, A.S., James, P.J., Lunke, S., Thorne, N., Gaff, C., Regan, B.M., Damiano, J.A., Hildebrand, M.S., Berkovic, S.F., O'Brien, T.J., Kwan, P., Epilepsy Research (2017) doi.org/10.1016/j.eplepsyres.2017.02.001

"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

Program design

"A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol", Taylor, N., Best, S., Martyn, M., Long, J.C., North, K.N., Braithwaite, J., Gaff, C., BMJ Open (2019) doi:10.1136/bmjopen-2018024681

"A novel approach to offering additional genomic findings - A protocol to test a two-step approach in the healthcare system", Martyn, M., Kanga-Parabia, A., Lynch, E., James, P.A., Macciocca, I., Trainer, H.A., Halliday, J., Keogh, L., Wale, J., Winship, I., Bogwitz, M., Valente, G., Walsh, M., Downie, L., Amor, D., Wallis, M., Cunningham, F., Burgess, M., Brown, N.J., Jarmolowicz, A., Lunke, S., Goranitis, I., Melbourne Genomics Health Alliance, Gaff, C.L.,  Journal of Genetic Counselling (2019). doi:10.1002/jgc4.1102

“Preparing for genomic medicine: a real world demonstration of the future”, Gaff, C., Winship, I.M., Forrest, S.M., Hansen, D.P., Clark, J., Waring, P.M., South, M., Sinclair, A.H., NPJ Genomic Medicine (2017) doi:10.1038/s41525-017-0017-4

"Inclusion of diverse populations in genomic research and health services: Genomix workshop report", Matthew, S.S., Barwell, J., Khan, N., Lynch, E., Parker, M., Qureshi, N., Journal of Community Genetics (2017) doi.org/10.1007/s12687-017-0317-5

"A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort", Downie, L., Halliday, J.L., Burt, R.A., Lunke, S., Lynch, E., Martyn, M., Poulakis, Z., Gaff, C., Sung, V., Wake, M., Hunter, M., Saunders, K., Rose, E., Rehm, H.L., Amor, D.J., BMJ Paediatrics Open (2017) doi: 10.1136/bmjpo-2017-000119 


Genomic data

"Interacting with Genomic Data: Clinician Requirements Prototype Requirements", Dana Bradford, Shlomo Berkovsky, Melissa Martyn, Tim Bakkar, Martin Krahnert, Michelle Rodriguez, Denis Bauer, Derek Ireland and Clara Gaff, Integrating and Connecting Care - Studies in Health Technology and Informatics (2017) doi:10.3233/978-1-61499-783-2-1

"Evaluation of computational programs to predict HLA genotypes from genomic sequencing data", Bauer, D.C., Zadoorian, A., Wilson, L.O.W, Melbourne Genomics Health Alliance, Thorne, N.P., Briefings in Bioinformatics (2016) doi.org/10.1093/bib/bbw097

"Cpipe: a shared variant detection pipeline designed for diagnostic settings", Sadedin, S.P., Dashnow, H., James, P.A., Bahlo, M., Bauer, D.C., Lonie, A., Lunke, S., Macciocca, I., Ross, J.P., Siemering, K.R., Stark, Z., White, S.M., Melbourne Genomics Health Alliance, Taylor, G., Gaff, C., OshlacK, A., Thorne, N.P., Genome Medicine  (2015) doi.org/10.1186/s13073-015-0191-x


Related publications

Melbourne Genomics staff and/or members have been involved in the following publications: 

"Preparing Australia for genomic medicine: data, computing and digital health" , David P Hansen, Marcel E Dinger, Oliver Hofmann, Natalie Thorne and Tiffany F Boughtwood, The Medical Journal of Australia - Expanding the evidence base in digital health (2019) doi: 10.5694/mja2.50032.