Targeted Genetic Testing for MODY in Gestational Diabetes

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.

Project Deliverables

Round 1 clinical projects build evidence and identify potential treatment pathways for genomic medicine.

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 and application
  • Genomics policy recommendations
Project Investigators

Project leaders engage with and draw upon the expertise of partners within universities, research institutes and hospital and health services around Queensland.

Dr Janet Warner, Mater Pathology (lead)

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