Genetic health services are playing an increasingly important role in improving human health. Australia’s First Nations people are underrepresented in such services, despite having a willingness to access these services and disproportionally high rates of particular conditions compared with the general Australian population. Many of these conditions are known or hypothesised to have a genetic contribution. For example, women in Arnhem Land suffer from vulval cancer at much higher rates than the general population , and the prevalence of Machado Joseph Disease (MJD) is estimated to be 100 times greater in affected Aboriginal communities of the Top End than anywhere else in the world .
The Lowitja Institute funds projects that inform the development of effective models of genetic health service provision and primary care for Indigenous people, and define ethical and culturally safe ways in which Aboriginal and Torres Strait Islander people have genetic information collected, stored and used for research. This work will improve health equity now and in the future.
The Institute also focuses on maximising the positive impact of the research using knowledge translation activities. These activities continue the engagement between communities, policymakers and researchers to understand and further the impact of the evidence.
The research we fund crosses the spectrum of health and wellbeing. The Models and quality of better genetic health services for Aboriginal and Torres Strait Islander people (BIG) project is an example of taking medical and laboratory-based science and service provision and applying it in ways that deliver a tangible benefit for Australia’s First Peoples. The BIG project will develop and trial strategies to strengthen capacity for the provision of culturally safe genetic health services, and identify gaps in the journey taken by Aboriginal and Torres Strait Islander people engaging with services.
Working alongside the BIG project, the Anindilyakwa people of the Groote Eylandt archipelago have driven research to reduce the devastating impact of MJD on their families and community. The project – Developing a physical activity program for Aboriginal families with MJD living in the Top End of Australia – will develop an evidence-informed physical activity program for individuals and families with MJD.
The Engaging Australia’s First Peoples in the development of ethics and protocols for a family-based microbiome study and social health history project examines and reviews the national and international frameworks of genomic research institutes that are currently engaging First Peoples senior knowledge holders and families in the governance of bioscientific cultural repositories. The key objectives are to map First Peoples leadership in describing, and responding to, historically collected biological samples and genetic data, and to define the ways in which contemporary social practices and cultural knowledge might support a culturally led project with long term benefits to the health and wellbeing of First Peoples families.
All of these projects, initiated and led by Aboriginal and Torres Strait Islander people, create a partnership between Western science, Indigenous knowledges and local solutions to improve the health and wellbeing of Australia’s First Nations  .
1. Condon, J.R., et al., A cluster of vulvar cancer and vulvar intraepithelial neoplasia in young Australian indigenous women. Cancer Causes Control, 2009. 20(1): p. 67-74.
2. Massey, L., et al., Disability Audit – NE Arnhem Land/NT Gulf – A Snapshot of Indigenous Australian Disability in the Very Remote Communities of the Groote Eylandt Archipelago (Angurugu, Umbakumba, Milyakburra), Elcho Island (Galiwin’ku), and Ngukurr (including Urapunga). 2013, MJD Foundation: Alyangula, NT, Australia.
3. Rae, K.M., S. Grimson, and K.G. Pringle, Personalised Medicine: A New Approach to Improving Health in Indigenous Australian Populations. Public Health Genomics, 2017. 20(1): p. 58-62.
4. Baynam, G., et al., Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity, in Rare Diseases Epidemiology: Update and Overview, M. Posada de la Paz, D. Taruscio, and S.C. Groft, Editors. 2017, Springer International Publishing: Cham. p. 511-520.