Translational Genomics

We aim to accelerate the implementation of new genomic technologies in healthcare, particularly for the benefit of children and families affected by rare disease.

Our genomics research broadly focuses on two key strategic areas:  

1. Increasing diagnostic yield in paediatric rare disease through genomic, muli-omic, and bioinformatic approaches, and 
2. Implementation of new genomic technologies into the healthcare system to improve patient care 

We lead and facilitate work across a wide range of disciplines, combining well-established and innovative principles of implementation science, psycho-social research and health economics with extensive expertise in translational research, clinical and laboratory service delivery, and technology implementation and validation. 

This not only ensures academic excellence but is critical to ensure that basic research is consistently and rapidly translated into real-life patient impact. 

Our projects

Acute Care Genomics 

This five-year project (2018-23) which was delivered under the auspices of Australian Genomics, established a national network of over 60 investigators across 17 sites, including clinical geneticists, medical scientists, bioinformaticians, genetic counsellors, educators, implementation scientists, health economists and bioethicists. 

The program performed ultra-rapid genomic sequencing in 450 critically ill babies and children with rare disease from all around Australia, with time to result of just three days. The program has resulted in more than 35 publications to date (including main results in JAMA and Nature Medicine) and has contributed to the discovery of over 10 new gene-disease associations. 

The Acute Care Genomics program won two Innovation Australia awards in 2021 in the MedTech/Biotech and Research Translation categories. Rapid genomic testing is now in the process of transition to healthcare system funding. 

Automated reanalysis in rare disease 

This project, delivered in partnership with the Centre for Population Genomics and several other collaborators nationally, has developed an automated bioinformatics pipeline to periodically re-examine stored data from rare disease patients who remain without a diagnosis after initial testing. The project will reanalyse data from over 10,000 patients nationally and is expected to deliver hundreds of new diagnoses to families. 

Translational genomics collaborations 

In addition, we are currently investigators on another 22 genomics research projects. These projects perform genomic sequencing and analysis to evaluate genomic testing for specific clinical indication and address broader implementation issues in clinical genomics. 

We are active partners in numerous national and international genomics collaborations, including through Australian Genomics, Melbourne Genomics, the Australian Functional Genomics Network, the Global Alliance for Genomics and Health, the Gene Curation Coalition, and the International Precision Child Health Partnership (IPChIP). 

Funding

• Genomics Health Futures Mission
• The Royal Children’s Hospital Foundation
  
  

Collaborations

• Australian Genomics
• Melbourne Genomics
• Australian Functional Genomics Network
• Global Alliance for Genomics and Health
• Gene Curation Coalition
• International Precision Child Health Partnership (IPChIP)

Featured publications

Integrated multi-omics for rapid rare disease diagnosis on a national scale. Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z.Nat Med. 2023 Jul;29(7):1681-1691.  

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Australian Genomics Health Alliance Acute Care Flagship; Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Adès LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z.JAMA. 2020 Jun 23;323(24):2503-2511. 

Genomic newborn screening for rare diseases.  Stark Z, Scott RH. Nat Rev Genet. 2023 Jun 29.

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children. Goranitis I, Wu Y, Lunke S, White SM, Tan TY, Yeung A, Hunter MF, Martyn M, Gaff C, Stark Z.Genet Med. 2022 May;24(5):1037-1044. 

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.  D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A.Lancet Neurol. 2023 Sep;22(9):812-825.