Peter Mac, Swinburne leads the DHCRC project to develop an AI platform for patients with genetic disorders

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

According to a media press release, the cloud-based platform known as GENIE will initially guide patients dealing with familial cancers and heart disease 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 enable the platform to help genetic counselors identify a specific subset of patients at key life stages, or who are at risk of not following management recommendations. A stakeholder group will be organized to prioritize the features that will be included in the development of the algorithms.

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

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


Improvements in genetic testing in recent years are identifying more people at risk for disease, noted Alison Trainer, clinical geneticist at Peter Mac. “Identifying these patients is only the first step in reducing mortality and morbidity; equally important is ensuring they have access to world-class care for the rest of their lives,” she said.

Identification can be further supported with digital tools “to help our genetic counselors respond quickly to individuals’ needs, through easy access to the right information and support at the right time,” Trainer added.

Prem Prakash Jayaraman, director of the Factory of the Future and Digital Innovation Lab in Swinburne, agreed, saying that an “AI-based digital health platform can support early intervention by using genetic mutation data and advanced AI algorithms to those at risk automatically”.

Through triage, GENIE will make it possible to provide time-sensitive clinical and psychological support to the most clinically vulnerable people.

“We see this as an important step in bringing precision medicine to genetic counseling,” said Dr. Stefan Harrer, DHCRC’s Chief Innovation Officer.


Also aimed at improving the early diagnosis of rare genetic disorders, Garvan Institute of Medical Research in Sydney recently partnered with Google Cloud to build the largest genome dataset in Australia. 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 investigate the distribution of genetic variation across populations and diagnose rare genetic disorders. .

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