Round 1

Clinical Demonstration Projects

The integration of genomics into everyday healthcare has the capacity to transform the delivery of health services globally with faster diagnosis, new treatments, and more cost effective service delivery. The QGHA will focus on a number of clinical demonstration projects and capability building workstreams to support the use of genomics in the healthcare setting.

The central objective of the Clinical Demonstration Projects is to evaluate the use of genomic sequencing in the diagnosis and management of patients in specific disease areas.

The four disease areas selected as Clinical Demonstration Projects in Round 1 are:


Queensland has the highest melanoma incidence and associated mortality rates in Australia and the world. The melanoma research project will focus on the use of genomics in the prevention and early detection of melanoma. In conjunction with 3D total body photography of moles and birthmarks, the project will undertake genomic testing for people at high risk of melanoma which will determine the effectiveness of genomics to enable prevention and earlier detection.This research will then be integrated into education for current and future clinicians to embed it into clinical practice.

Lung Cancer

The lung cancer research project will pilot the use, and assess the impact, of genomic testing in lung cancer treatment in Queensland. The project team will work with lung cancer patients across Queensland, including sub studies involving indigenous patients from metropolitan, regional and remote communities. The approaches used in the lung cancer project could be applied across other cancer types in the future.

Hospital-acquired Infections

Hospital-acquired infections are a part of modern health care across the world, and can be a significant risk to hospital patients, particularly those infections that are resistant to antibiotics. It is estimated that there are around 200,000 healthcare-associated infections in Australian acute healthcare facilities each year, making them the most common complication affecting patients in hospitals.

This project will sequence bacterial genomes, allowing a detailed analysis of the genes that relate to antibiotic resistance and infection transmission. The outcome of this research will help hospitals to reduce the incidence of hospital-acquired infections, and to prevent infection outbreaks before they become established.

Maturity Onset Diabetes of the Young (MODY)

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.

 2 A Program Logic template (and/or guidance) may be developed for use in the application process.

2 A Program Logic template (and/or guidance) may be developed for use in the application process.


More detailed descriptions of the evaluation criteria for Demonstration Projects can be accessed here.