Australian health care is moving towards using genomics for diagnosing and treating rare diseases and cancers. However, the majority of reference datasets currently available feature mostly European people’s genomes. This makes it harder for rare diseases and potentially dangerous genetic variations to be accurately diagnosed in Indigenous people. As genomic medicine grows in prominence, Indigenous people risk being left behind by data and methods that do not include them.

The National Centre for Indigenous Genomics (NCIG) based at The Australian National University is a long-term initiative to bring equitable benefits of genomic medicine to Indigenous Australians. The NCIG is the custodian of an invaluable collection of DNA samples from Indigenous people across Australia, collected between the 1960s and the 1990s. The centre is wholly dedicated to bringing the benefits of genomic medicine to Indigenous Australians, with decision-making and control of the data fully led by the Indigenous-majority board and the Indigenous people themselves.

The storage, processing, and analysis of genomic data from the NCIG collection has been taking place on the NCI supercomputing and data storage systems for five years with a view to making it available for clinical and research use in the future. NCI provides a trustable, secure backbone for all of NCIG’s sensitive data. The integrity and security of the datasets is of the utmost importance. With a data collection approaching 500 terabytes and constantly being reprocessed and analysed, high-performance computing integrated with rapid filesystems is critical for the efficient processing of the valuable genomic data.

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A group from the National Centre for Indigenous Genomics visits the Gadi supercomputer in November 2019.

NCIG Bioinformatics Lead Dr Hardip Patel says, “NCIG is based around the principle that Indigenous people are in charge of their data. We build a relationship with those communities and individuals whose DNA was collected many decades ago, and ask them how they would like us to proceed with the samples we do have. Some samples have been recently repatriated to Galiwin’ku after many years away from their country with the permission to use the data for research.”

“We are using NCI at every step of the process from the initial quality assessment and alignments to complex genetic analysis, research, reprocessing, storage and curation. The data collection we are building will provide a reference baseline of genomic data for Australian Indigenous people. This resource will be used for carefully controlled research and clinical settings to benefit the whole of Australia.”

Since 2017, the NCIG has used 17 million units of computing time at NCI. In collaboration with research groups around the country, they are using Gadi’s Graphics Processing Units to run Machine Learning algorithms on the DNA sequences. They are also developing an Indigenous Australian variant of the reference human genome that more fully captures specific genetic details that are missing in the current generic reference genome to improve accuracy of genomic analyses and interpretations.

The aims of the NCIG are long-term and carefully considered. Over time, its work will lead to improved health outcomes for Indigenous people. NCI is proud to support their nationally significant mission through reliable and secure data processing and analysis infrastructure.

About NCIG:

NCIG is bringing Indigenous decision-making into a high-performance biomedical research environment. NCIG is dedicated wholly to bringing the benefits of genomic medicine to Indigenous Australians. It is doing this by creating Indigenous genomic data resources which will be available to researchers, subject to appropriate access mechanisms, for a wide range of Indigenous-focused genomic health and medical research.

NCIG has built a foundation on which Australia can prepare for the transformation of medical research and healthcare led by genomics. NCIG is ensuring that Indigenous Australians are included in the design and implementation of this important frontier of medical research, and sharing in the benefits of this astonishing field of research and discovery.

Find out more about the NCIG here: https://ncig.anu.edu.au/.