Mater Research to develop guidelines for genetic testing in gestational diabetes

Friday 28 April 2017

Mater Research will share in $25 million of Government funding to translate genomics research into healthcare practice as part of the Queensland Genomics Health Alliance (QGHA).

Speaking at the Committee for Economic Development Australia (CEDA), Health and Ambulance Services Minister Cameron Dick announced $4.8 million had been awarded to recipients of the first of three funding rounds.

“Four of the projects will receive $600,000 over 18 months to demonstrate the use of genomic medicine to diagnose and manage patients with melanoma, lung cancer, infectious diseases and maturity-onset diabetes of the young,” Mr Dick said.

The QGHA is a collaboration involving Mater Research, Queensland-based universities and research organisations, the Queensland Hospital and Health Services network, private health providers and associated health organisations throughout Queensland.

Mater Researcher Dr Janet Warner is the clinical leader of a successful application in the first round for a project to evaluate the clinical, ethical and economic factors in targeted genetic testing for maturity-onset diabetes of the young (MODY) in gestational diabetes.

“MODY is estimated to comprise one to two per cent of diabetes diagnoses but its prevalence is probably underestimated due to lack of genetic testing,” Dr Warner said.

“MODY is important to diagnose in pregnancy because specific therapy is required which may affect the welfare of the fetus as well as the mother. MODY may be first apparent during routine screening for gestational diabetes (GDM) and is likely to be labelled ‘GDM’, unless a specific genetic diagnosis is made.”

It is estimated that approximately 4500 cases of GDM are diagnosed and treated in Queensland per year. The proportion of these women with diabetes due to MODY is currently unknown.

Dr Warner said that despite proven benefits to fetus and mother, MODY genotyping was not currently offered routinely to patients with gestational diabetes. In this study women diagnosed with GDM through routine screening in pregnancy will be offered genotyping for MODY by Mater Pathology.

“The objectives of our study are to determine the prevalence of MODY in women diagnosed with GDM; to understand whether routine screening of all MODY genes in all women with GDM is cost-effective or whether certain phenotypes and certain genes should be targeted; to determine the degree to which a MODY diagnosis impacts on clinical decision making for both mother and fetus; and lastly to engage the clinical workforce in initiating genetic testing, where appropriate,” Dr Warner said.

The ultimate aim of Dr Warner’s project is to provide clear state-wide guidelines for the cost-effective adoption of MODY genetic testing in GDM with the potential life long and familial benefits of a MODY diagnosis through the prevention of non-targeted treatment, prevention of diabetes complications and the flow on personal and societal cost benefit.
The genome is the complete set of genetic information located in each cell of every living thing, and genomics is the science that aims to understand the genome.

The Mater Research team involved in the project includes Professor John Prins (Chief Investigator), Professor Brenda Gannon, Professor David McIntyre, Dr Michael Beckmann, Dr Lisa Hayes and Mr Ivan McGown.

QGHA aims to bring genomics into everyday healthcare in Queensland and the funding will position the state as a world leader in the translation of genomics research into healthcare practice.