Last week, the 43rd annual Lorne Genome conference was held in a hybrid format with face-to-face participation at Mantra Lorne as well as through an online portal. Our team presented an oral presentation on the detection of genomic variations in COVID-19 associated with worse disease outcome and a poster on the identification of novel coronary artery disease markers using our machine learning pipeline.

While a variety of topics including epigenetics and epigenomics, population genetics and genomics, and computational biology and bioinformatics were covered, the theme that spoke out the most was equity in genomic research. As highlighted in a previous blog post, the systematic Eurocentric bias in genomic research is one of the current challenges in the field. This has resulted in poor transferability of genomic research outcomes to other ethnic groups, it hinders the predictability of genetic models, and continues to augment health disparities.

Irene Gallego Romero from the University of Melbourne presented their recent paper where they looked at this issue using a different lens; asking if the impact of disparity in genomic studies extends to gene and functional regulation. Working with four Indonesian communities that represent a genomic cline of Asian to Papuan ancestry, they found evidence of population-specific genomic architecture. Their work continues to emphasise the importance of comprehensive sampling of global communities.

To that end, Daniel MacArthur from the Centre for Population Genomics spoke about the efforts from the Genome Aggregation Database (gnomAD) to aggregate and share high-quality genomic information from an ancestrally diverse sample set.  He also highlighted the need to move towards cloud computing as more genetic data is collected and analysed. The shift towards cloud computing is more relevant than ever in the age of population-scale genomic medicine, necessitating the need for high compute power and the ability to efficiently share large amounts of data. He further emphasised that to glean the greatest benefit from such efforts, we need to push for data (and software) to be open source, suggesting that participants, and not researchers, should have control over data use permissions.

Bringing the idea of equitable representation into the Australian context, there were multiple presentations on the effort to explore and build an Indigenous Australian reference genome. Matthew Silcocks, Ashely Farlow, and Hardip Patel presented the efforts from the National Centre for Indigenous Genomics (NCIG) to include Indigenous Australians in genomics research by exploring population specific genomic variation and by building a reference genome for Indigenous Australians. The NCIG has worked closely with four Indigenous communities and have found evidence of strong homology within each community but distinct heterogeneity between the communities. They have also estimated that 7-9% of genetic variants within the four communities have not been found in any other population. This work to include Indigenous Australians in the advent of genomic medicine is crucial as Indigenous Australians suffer higher mortality rates due to complex diseases compared to non-Indigenous Australians.

There was a lot to learn from this conference, but what resonated was the breadth and rapid pace of genomic research and its widespread implications in medicine.

And as genomic medicine starts to become a reality, it is our obligation that we ensure that it benefits all communities across the world.