OurDNA

Using AI tools to make genetic research fairer for everyone

Genetic medicine is changing healthcare. Doctors and scientists study the information in DNA to help explain, diagnose, or predict health conditions, and to help choose the best treatment for each person.

But there’s a huge amount of information to make sense of. Every person's DNA contains billions of ‘letters’, and scientists publish thousands of new discoveries every month.

This is where artificial intelligence (AI) can help. ‘AI’ isn’t one thing. It’s a group of computer tools that can find patterns in very large amounts of information. Because DNA holds so much information, genetics is a field where these tools can make a real difference.

Technology that works for everyone

OurDNA’s mission has always been to make sure all communities can benefit from advances in health. As AI becomes part of how genetic research is done, we want to make sure all communities benefit from advances in technology too.

This matters because AI learns from data. Most genetic data studied in research today comes from people with European ancestry. That's because research hasn't always included other communities, not because of anything about those communities themselves. As a result, many communities are still underrepresented in this data.

When AI tools learn from data that is incomplete, they can work less well for the underrepresented communities. Instead of closing health gaps, this could make them wider. New technology hasn't always been built with every community's interests in mind, and we want to change that.

We believe the best way to stop AI from making these gaps worse is to include communities in the data it learns from, right from the start. OurDNA is building genetic data that reflects all of Australia’s communities. This helps make sure that new medical advances, and the technologies built on them, work for everyone.

Used well, AI tools won't just make research faster. It can help make it fairer.

A new wave of tools for a long-standing challenge

At OurDNA and the Centre for Population Genomics (CPG), we’re always looking for better ways to understand genetic data. Professor Daniel MacArthur, Director of CPG, explains:

"More than half of the families affected by severe genetic conditions still don't have an answer for what's causing their child's disease, limiting their ability to access new treatments or clinical trials. The bottleneck is no longer sequencing DNA, but the painstaking manual work of interpreting the genetic changes we find in patients' genomes."

Reading DNA is no longer the hard part. Making sense of it is.

For example, when scientists find a change in someone's DNA, they need to work out whether it is harmless or could affect health. There are millions of possible changes, and checking each one manually is a slow process. AI tools can help predict which changes are most likely to matter, so scientists can focus on those first.

These tools are the latest step in solving problems like this, and they help scientists find answers for families sooner.

CPG uses these tools in our rare disease research, and we also help build and improve them. A tool is only useful if it is accurate and reliable, so we check ours carefully before using them in research that affects people's health.

What AI doesn’t change

It's important we’re clear about what AI does not change. AI tools are a way to study data, like other tools we use. They do not change the promises we have made to keep your information safe.

Those promises stay the same, even as the tools become newer and more powerful:

🔒 Privacy and security

Keeping your information safe and private is our top priority. Your personal or identifying information never leaves our secure environment.

🏥 Only for medical research

The samples and information you give are only ever used for health and medical research.

✅ Your choice

Taking part is always your choice and you can choose to opt out at any time.

🤝 Fair access

We work to make sure every community can benefit from these tools.Taking part is always your choice and you can choose to opt out at any time.

🔍 Careful oversight

We keep a close watch on any tool our researchers use to study your information.

⚙️ Transparency

We will always be clear about how, where, and when we use AI tools.

Looking forward

AI will play a big role in the future of genetic research. As these tools develop, we will keep working closely with our Multicultural Advisory Group, a group that helps keep our communities' interests at the centre of every tool we use and every discovery we make.

In future, we'll share more about how CPG is using these tools. One project, TranslatED, is looking at how AI can help more people take part in genetic research in their own language. It's one way we're using these tools to open up access, not narrow it.

Our use of AI