Peter Mac and Swinburne lead the DHCRC project developing an AI platform for patients with genetic disorders

Melbourne institutions Peter MacCallum Cancer Center and Swinburne University of Technology are leading a Cooperative Digital Health Research Center project that will develop an AI-powered virtual platform for patients with genetic disorders.

According to a press release, the cloud-based platform known as GENIE will initially provide patients with familial cancers and heart disease with advice on how to find specialist care, support for clinical and psychological issues and updates on clinical trials.

Over the next two years, the partners will develop algorithms that will allow the platform to help genetic counselors identify a specific subgroup of patients at key life stages or at risk of not meeting the recommendations of supported. A group of stakeholders will be organized to prioritize the functionalities that will be integrated into the development of the algorithms.

In addition, the clinical data to be collected from GENIE will be integrated seamlessly into a specialized family database of the Clinical Genetics Service (CGS).

The partners will later trial the online platform in a CGS setting at Peter Mac’s Parkville Familial Cancer Services Center, led by a genetic counselor digital care coordinator. They will also prepare a business case, business model and market analysis to pave the way for the commercialization of GENIE.


More and more people with a high-risk predisposition for the diseases are being identified thanks to improved genetic testing in recent years, noted Alison Trainer, clinical geneticist at Peter Mac. “Identifying these patients is only the first step to reducing mortality and morbidity; it is equally important to ensure that they can access world-class care for the rest of their lives,” she said.

Identification can be bolstered by digital tools “to help our genetic counselors respond quickly to individuals’ needs, providing immediate access to the right information and support at the right time,” Trainer added.

Prem Prakash Jayaraman, Director of Swinburne’s Factory of the Future and Digital Innovation Lab, said an “AI-based digital health platform can support early intervention using genetic mutation data and advanced AI algorithms to automatically identify those at risk.” .

Through triage, GENIE will provide urgent clinical and psychological support to the most clinically vulnerable individuals.

“We see this as an important step in bringing precision medicine to genetic counselling,” commented Dr. Stefan Harrer, Director of Innovation at DHCRC.


Also aiming to improve the early diagnosis of rare genetic diseases, the Sydney’s Garvan Institute of Medical Research recently partnered with Google Cloud to create what could be Australia’s largest genomics dataset. They will process a dataset of approximately 14,000 genomes, which will be used by the Center for Population Genomics, a joint venture between Garvan and the Murdoch Children’s Research Institute, to explore the distribution of genetic variation among populations and improve the diagnosis of rare genetic diseases.

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