Genomic Medicine

Genomics is an area within medical science that examines the ‘genome’—the complete set of our genetic information.

Area lead:

A/Prof Ilias Goranitis

Genomic medicine is transforming the diagnostic paradigm for multiple conditions, including rare diseases and cancer.  Genomic information enables informed medical management and precision treatment, with potentially significant equity and economic benefits to healthcare systems and personal benefits to patients and their families.

In partnership with the Murdoch Children’s Research Institute and Australian Genomics, Royal Children’s Hospital, Melbourne Genomics, Walter and Eliza Hall Institute, Garvan Institute of Medical Research and many other major institutions and world-leading clinicians and researchers across Australia, we are working to generate the health economics evidence required to inform the prioritisation and implementation of genomic medicine in the Australian healthcare system.

Using advanced health economic modelling and stated-preference elicitation methods, we explore the value, cost-effectiveness, and cost-benefit of genomic medicine to inform healthcare decision-making.  Our team is providing advice nationally and internationally on the prioritisation of genomics and genomics research, and our applied and methodological work is now used to shape government policy nationally and internationally.

Related Research staff:

Dr Yan Meng, Dr Tianxin Pan, Dr Cun Liu (Lizzy), Dr Dylan Mordaunt, Mr Francisco Santos Gonzalez, Mr Mackenzie Bourke, Mr Daniel Sheen

Projects Listing

  • Australian Genomics Grant Program Proposal
  • National precision health research translation for breast and prostate cancer prevention and early detection
  • A national large scale automated reanalysis program to increase rare disease diagnosis
  • The Australian Undiagnosed Diseases Network (UDN-Aus): An internationally networked national approach for transforming diagnosis for individuals living with rare diseases
  • Measuring quality of life in rare diseases
  • National rapid genomic diagnosis program for critically ill children
  • A Centre for Ethics of Paediatric Genomics to Improve Paediatric Care
  • Investigating the role of genetics for risk stratification in atrial fibrillation
  • Delivering a national peer support and education program for people with advanced genetic kidney disease
  • A national centre of excellence in speech genetics: transforming patient care
  • Melbourne Genomics Clinical Flagships Evaluation

Selected Publications


GORANITIS I, WU Y, LUNKE S, et al. Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children. Genet Med. 2022;24(5):1037-1044. doi:10.1016/j.gim.2022.01.013

MENG Y, CLARKE PM, GORANITIS I. The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions. PharmacoEconomics. 2022;40(2):215-223. doi:10.1007/s40273-021-01103-9


JAYASINGHE K, WU Y, STARK Z, KERR PG, MALLETT AJ, GAFF C, MARTYN M, GORANITIS I, QUINLAN C. Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases. Kidney Int Rep. 2021 Sep 8;6(11):2850-2861. doi: 10.1016/j.ekir.2021.08.028.

WU, Y., BALASUBRAMANIAM, S., RIUS, R., THORBURN, D. R., CHRISTODOULOU, J., & GORANITIS, I. (2021). Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation. European journal of human genetics : EJHG, 10.1038/s41431-021-00916-8. Advance online publication.

GORANITIS, I., BEST, S., CHRISTODOULOU, J., BOUGHTWOOD, T., & STARK, Z. (2021). Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment. European journal of human genetics : EJHG, 10.1038/s41431-021-00874-1. Advance online publication.

DOWNIE, L., AMOR, D. J., HALLIDAY, J., LEWIS, S., MARTYN, M., & GORANITIS, I. (2021). Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis. The Laryngoscope, 131(7), E2371–E2377.

ERATNE, D., SCHNEIDER, A., LYNCH, E., MARTYN, M., VELAKOULIS, D., FAHEY, M., KWAN, P., LEVENTER, R., RAFEHI, H., CHONG, B., STARK, Z., LUNKE, S., PHELAN, D. G., O'KEEFE, M., SIEMERING, K., WEST, K., SEXTON, A., JARMOLOWICZ, A., TAYLOR, J. A., SCHULTZ, J., PURVIS, R., UEBERGANG, E., CHALINOR, H., CREIGHTON, B., GELFAND, N., SAKS, T., PRAWER, Y., SMAGARINSKY, Y., PAN, T., GORANITIS, I., ADEMI, Z., GAFF, C., HUQ, A., WALSH, M., JAMES, P. A., KRZESINSKI, E. I., WALLIS, M., STUTTERD, C. A., BAHLO, M., DELATYCKI, M. B. & BERKOVIC, S. F. 2021. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. J Neurol Sci, 420, 117260.

GORANITIS, I., BEST, S., STARK, Z., BOUGHTWOOD, T. & CHRISTODOULOU, J. 2021. The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment. Genet Med, 23, 155-162.


AKESSON, L. S., BOURNAZOS, A., FENNELL, A., KRZESINSKI, E. I., TAN, K., SPRINGER, A., ROSE, K., GORANITIS, I., FRANCIS, D., LEE, C., FAIZ, F., DAVIS, M. R., CHRISTODOULOU, J., LUNKE, S., STARK, Z., HUNTER, M. F. & COOPER, S. T. 2020. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Hum Mutat, 41, 1884-1891.

BEST, S., STARK, Z., PHILLIPS, P., WU, Y., LONG, J. C., TAYLOR, N., BRAITHWAITE, J., CHRISTODOULOU, J. & GORANITIS, I. 2020. Clinical genomic testing: what matters to key stakeholders? Eur J Hum Genet, 28, 866-873.

CATCHPOOL, M., RAMCHAND, J., HARE, D. L., MARTYN, M. & GORANITIS, I. 2020. Mapping the Minnesota Living with Heart Failure Questionnaire (MLHFQ) onto the Assessment of Quality of Life 8D (AQoL-8D) utility scores. Qual Life Res, 29, 2815-2822.

DOWNIE, L., AMOR, D. J., HALLIDAY, J., LEWIS, S., MARTYN, M. & GORANITIS, I. 2020. Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis. Laryngoscope.

BELSEY  J, CHAIHORSKY  L, CURRIE G, GORANITIS  I , MARSHALL  D.  Global data access for solving rare disease: a health economics value framework. 2020 World Economic Forum.

GORANITIS, I., BEST, S., CHRISTODOULOU, J., STARK, Z. & BOUGHTWOOD, T. 2020. The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments. Genet Med, 22, 1311-1319.

WU, Y., AL-JANABI, H., MALLETT, A., QUINLAN, C., SCHEFFER, I. E., HOWELL, K. B., CHRISTODOULOU, J., LEVENTER, R. J., LOCKHART, P. J., STARK, Z., BOUGHTWOOD, T. & GORANITIS, I. 2020. Parental health spillover effects of paediatric rare genetic conditions. Qual Life Res, 29, 2445-2454.

YEUNG, A., TAN, N. B., TAN, T. Y., STARK, Z., BROWN, N., HUNTER, M. F., DELATYCKI, M., STUTTERD, C., SAVARIRAYAN, R., MCGILLIVRAY, G., STAPLETON, R., KUMBLE, S., DOWNIE, L., REGAN, M., LUNKE, S., CHONG, B., PHELAN, D., BRETT, G. R., JARMOLOWICZ, A., PRAWER, Y., VALENTE, G., SMAGARINSKY, Y., MARTYN, M., MCEWAN, C., GORANITIS, I., GAFF, C. & WHITE, S. M. 2020. A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients. Genet Med, 22, 1986-1993.


CATCHPOOL, M., RAMCHAND, J., MARTYN, M., HARE, D. L., JAMES, P. A., TRAINER, A. H., KNIGHT, J. & GORANITIS, I. 2019. A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy. Genet Med, 21, 2815-2822.

JAYASINGHE, K., STARK, Z., PATEL, C., MALLAWAARACHCHI, A., MCCARTHY, H., FAULL, R., CHAKERA, A., SUNDARAM, M., JOSE, M., KERR, P., WU, Y., WARDROP, L., GORANITIS, I., BEST, S., MARTYN, M., QUINLAN, C. & MALLETT, A. J. 2019. Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. BMJ Open, 9, e029541.

MARTYN, M., KANGA-PARABIA, A., LYNCH, E., JAMES, P. A., MACCIOCCA, I., TRAINER, A. H., 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, A. & GAFF, C. L. 2019. A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system. J Genet Couns, 28, 388-397.

TAN, T. Y., LUNKE, S., CHONG, B., PHELAN, D., FANJUL-FERNANDEZ, M., MARUM, J. E., KUMAR, V. S., STARK, Z., YEUNG, A., BROWN, N. J., STUTTERD, C., DELATYCKI, M. B., SADEDIN, S., MARTYN, M., GORANITIS, I., THORNE, N., GAFF, C. L. & WHITE, S. M. 2019. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. Eur J Hum Genet, 27, 1791-1799.