Centre for Population Genomics and Google team up to advance genomic medicine
Editor's note: This blog post is authored by guest author Prof. Daniel MacArthur, Director of Centre for Population Genomics.
As we move ever faster into the era of genomic medicine, it’s critical to ensure that new technologies to improve the prediction, diagnosis and treatment of disease can benefit everyone.
Today, we’re delighted to announce a new partnership with Google to accelerate community engagement, recruitment and the discovery of genetic variation in the OurDNA program – supported by Google’s Digital Future Initiative. It’s a pioneering effort to increase the representation of many communities in genomic resources and thus pave the way for a more equitable future for genomic medicine.
The urgency of genomic representation
Genomic medicine refers to a set of technologies, such as genome sequencing, that are transforming the way we understand human biology and disease. However, virtually all genomic technologies rely on comparing data from patients with data from very large cohorts representing the general population. Unfortunately, current genomic resources do not adequately account for many Australian communities, such as those of Indigenous, East-African, Oceanian, South-East Asian, North African and Middle Eastern ancestry. Unless we can urgently address this under-representation, there is a very real risk that genomic medicine will exacerbate existing inequities in health outcomes.
To tackle this challenge, the Centre for Population Genomics (CPG) – a joint non-profit research initiative, developed as a collaboration between the Garvan Institute of Medical Research and Murdoch Children’s Research Institute – is partnering with Australian communities to recruit over 10,000 Australians from diverse backgrounds in a program called OurDNA. By generating genomic data from multiple under-represented ancestries, OurDNA will build a resource that supports better prediction, diagnosis, and treatment of disease, and ensures these advances are available to people from all backgrounds.
OurDNA recruitment launched in 2024, and our team has now collected DNA, blood samples, and living cells from over 800 individuals from our first two communities: individuals of Filipino and Vietnamese descent.
OurDNA is designed to be a long-term resource for research, but also to achieve clinical impact as quickly as possible. The program will identify genetic variants known to substantially increase risk of treatable conditions like high cholesterol and cancer, and return them to participants along with genetic counseling to help them minimise their risk.
We will also be sharing data from the program in a way that immediately helps to improve the diagnosis of families affected by severe genetic diseases such as muscular dystrophy and cystic fibrosis. Such families from under-represented communities are currently substantially less likely to get a confident diagnosis, which means it’s harder for them to access information, new treatments, and clinical trials; OurDNA will help to close this gap.
Prioritising community interests
The OurDNA program takes a community-based, participatory approach to genomic research. This approach draws on community members’ knowledge and expertise to develop culturally aligned approaches for recruitment. Community engagement, which is often underfunded in genomic research, is central to our approach, and Google’s support allows us to expand these efforts rapidly.
The partnership also builds on our ongoing collaboration with the Genomics team in Google Research, who are building innovative tools to advance the discovery of novel genetic variations in under-represented populations, including DeepPolisher which helps construct better reference genomes, DeepConsensus which makes sequencer output more accurate, and new methods to use reference genome from many ancestries to better analyse an individual.
This program will help us build population-specific reference genomes with both long-read and short-read sequencing data from OurDNA participants. Google Research is developing a variant caller that can effectively leverage these references to improve variant calling in our whole genome sequencing data.
Genetic analysis at scale
Since CPG launched in early 2020, we have been using Google Cloud to enable our genomic analysis. The use of cloud technology ensures that the data1 we collect from communities is held securely, following the same standards used for other industries with sensitive data.
In addition to its value for data privacy and security, using cloud technology provides us with the ability to rapidly scale – ensuring that the analyses we are now running on thousands of genomes can ultimately scale to the millions of genomes that will be necessary for genomic medicine to become feasible in Australia.
We’re incredibly excited about the opportunities raised by this collaboration, and we look forward to continuing to work with Google Australia to make genomic resources more representative, and genomic analysis more broadly accessible.
