Round 1

Clinical Demonstration Projects

Maturity Onset Diabetes of the Young (MODY) Project

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According to Diabetes Australia, approximately 1 million Australians have been diagnosed with diabetes. Maturity onset diabetes of the young (MODY) affects 1-2 per cent of people with diabetes but its prevalence could be underestimated due to lack of genetic testing.  

MODY may be first apparent during routine screening for gestational diabetes in pregnancy and is likely to be labelled gestational diabetes unless a specific genetic diagnosis is made. Correct diagnosis means that mothers and babies can get the right care. MODY runs in families because of a change in a single gene which is passed on by affected parents to their children.

The MODY research project will use genomic sequencing to determine the prevalence of MODY in women diagnosed with gestational diabetes, and whether it is cost effective to implement routine MODY screening in women with gestational diabetes to ensure accurate diagnosis and optimal care of mother and baby.


Patient Recruitment and Testing:

  • Patient recruitment (estimate 480 patients over 12 months)

  • MODY Testing (13 gene panel)

Data Analysis, Transfer and Reporting Approaches:

  • Research Agreements

  • Models for consent, sample collection, testing, genomic profiling, data analysis, clinical reporting & pipeline analysis

  • Research Database

  • Performance assessment of models

Health Economics Assessment:

  • Costs of current clinical pathways

  • Longitudinal data collection

  • Report Impacts (economic & clinical) of new clinical pathway

Education/Workforce Development:

  • Protocol for consent and education materials

Ethics, Legal and Social Implications:

  • Genomics knowledge & application

  • Genomics policy / recommendations

Project Investigators

  • Dr Janet Warner, Mater Pathology

  • Ivan McGown, Mater Pathology

  • Professor David McIntyre, Mater Health

  • Dr Helen Barrett, Mater Pathology

  • Dr Lisa Hayes, Princess Alexandra Hospital

  • Dr Michael Beckman, Mater Health

  • Professor Brenda Gannon, The University of Queensland

  • Dr Josephine Laurie, Mater Health

Maturity Onset Diabetes of the Young (MODY) Project Factsheet [pdf]