Population genomics and equitable genomic medicine

Medicine is going through a major shift thanks to rapid advancements in genomics, data science and therapeutics. These advancements are paving the way for the new field of genomic medicine.

Genomic medicine approaches have already profoundly altered the treatment of cancer and the diagnosis of severe genetic diseases. It also has the potential for significant advances in the near future, allowing us to better predict, diagnose and treat various disorders.

Australia is already using genomic technologies in clinical settings, but we face a major challenge. Genomic medicine needs to compare patient data with data from many healthy individuals, but existing genomic resources lack representation from many large Australian communities.Unless this can be rapidly addressed, it will create increasing inequity in healthcare outcomes, with under-represented communities facing less accurate genetic diagnosis, poorer risk predictions, and more limited access to precision therapies. ​

The Centre for Population Genomics, a partnership between Murdoch Children’s Research Institute and the Garvan Institute of Medical Research in Sydney, is focused on addressing this challenge. The Centre’s joint presence at these two institutes allows us to take advantage of our complementary strengths in genomic medicine: Garvan’s leadership in population genomics and data science, and MCRI’s deep expertise in working with large cohorts of children, rare paediatric diseases, and the translation of research findings into clinical outcomes.

The Centre for Population Genomics’ mission is to:

  • Build respectful partnerships with diverse Australian communities
  • Work with these communities to collect and analyse genomic data at transformative scale
  • Drive genomic discovery and ultimately a more equitable model for genomic medicine

Data science and its importance for child health

Watch as Beckett asks Professor Daniel MacArthur to explain data science.








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