What is Genomics … And How Are These Two Aussie Women Using it to Change Lives?

By Marie-Antoinette Issa
on 3 June 2025

If you’ve ever had your DNA tested to learn about your ancestry, then you’ve dipped your toes into the world of genomics. But, beyond telling us if we’re part Viking or 5% French, genomics is quietly revolutionising science and health care, right here in Australia.

Genomics is the study of a person’s genes – the DNA code that tells our bodies how to grow, function and repair. It sounds futuristic, but this science is already transforming how we diagnose and treat everything from rare genetic conditions to cancer. Despite this, many people – including some in our health system – still see it as something for “tomorrow.” But tomorrow is already here. And unless our hospitals, policymakers and clinicians fully embrace it, Australia risks falling behind in the global shift toward precision medicine.

Luckily, there’s a growing movement to change that. And, it’s being led by some brilliant women. Including the dynamic duo below.

Professor Clara Gaff

As the Executive Director of Melbourne Genomics, Professor Clara Gaff has been championing the integration of genomics into health services since day one. She’s not only shaped how we deliver genomic medicine here in Australia but has had a global influence on how it’s done ethically and responsibly.

Clara’s achievements are impressive. Under her leadership, Melbourne Genomics delivered the first real-time evidence that genomic testing improves patient care. Her work has helped shape national policy and unlock government funding to make genomic testing more accessible. She’s also overseen the creation of internationally recognised educational resources, helping medical professionals learn how to use genomic information effectively.

Beyond her strategic leadership, Clara’s background as a genetic counsellor brings a human touch to her science. She understands that behind every gene sequence is a patient, a family, a story. And, she’s been a strong voice for making genomics safe, inclusive and understandable for all Australians.

Dr Natalie Thorne What is genomics

Dr Natalie Thorne

Alongside Clara, another trailblazer is pushing the boundaries of what’s possible in this space. Dr Natalie Thorne is a bioinformatics expert and digital health innovator who’s helped build the tools that bring genomic medicine into clinical practice.

Natalie led the creation of Genomical, a world-first platform developed at Melbourne Genomics that manages each step of a genomic test. Think of it as the digital infrastructure that securely stores, shares, and applies genomic data to inform patient care. Six accredited laboratories across Australia now use it, and a spin-out company, Transcendomics – where Natalie now serves as Chief Scientific Officer – manages it.

She also developed national platforms for sharing genetic information and created training modules that help medical scientists interpret genomic data – tools that play a crucial role in making genomics part of routine care.

In 2022, Natalie was named one of the 25 Brilliant Women in Digital Health by the Telstra Foundation. It’s a fitting recognition for someone who’s made a career out of solving wicked problems in a highly complex, fast-moving field.

Professor Clara Gaff What is genomics

How is Genomics changing lives?

What Clara and Natalie’s stories show us is that genomics is no longer science fiction. It’s real, it’s here, and it’s saving lives. Whether it’s diagnosing a child’s rare disease in days instead of years, or tailoring cancer treatment to a patient’s unique genetic profile, the impact is profound.

But, for genomics to truly fulfil its potential, we need to keep building awareness, infrastructure and trust. This ensures that Australians everywhere can understand and access the life-changing benefits of this cutting-edge science.

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