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Rheumatic Heart Disease Australia

RHD Resouces

Rheumatic heart disease – do your genes matter?

The largest genetics study ever conducted with Indigenous Australians has brought researchers a step closer to finding a genetic susceptibility to rheumatic heart disease. The success of the study has been attributed to the participatory approach in engaging communities and recruiting participants.

The project set out to improve the understanding of genetics research of key stakeholders and to identify regions of the human genome that make Aboriginal and Torres Strait Islander communities susceptible to rheumatic heart disease.

Genetic research in Indigenous communities has a contentious history, both in Australia and elsewhere. Exploring the community understanding and acceptance of genetic research was vital to better understanding rheumatic heart disease. An Aboriginal Governance Committee provided advice and advocacy to the project and yarning circles and detailed discussions with elders and councils were held in each community. This informed the development of culturally appropriate materials to educate and guide the community in the consent process. 

“Evaluation has shown the resources developed in consultation with the community were well accepted and, with a consent rate of 80%, we are confident that people were understanding “genetics”.   All communities that were approached during the consultation phase chose to participate in the project” said Melita McKinnon, Project Manager.

Over the course of the last three years the project team worked with 60 community based researchers to recruit 1,379 participants from 18 communities across the Northern Territory.  Saliva samples were collected from the participants, of whom 431 had a history of rheumatic heart disease and 858 had no history of acute rheumatic fever or rheumatic heart disease. Genotyping was conducted to identify regions of the human genome that confer susceptibility to rheumatic heart disease in Australian Aboriginal and Torres Strait Islander communities. Dr Steven Tong, a lead investigator of the research, shares the initial findings:

“Out of the whole genome (3 billion DNA letters), we have found one particular area that may be associated with rheumatic heart disease. We are now doing more detailed work to confirm this and determine whether there are some specific DNA letters in this region linked directly to having an increased risk of getting rheumatic heart disease. If we do confirm this, it may help us better understand why and how rheumatic heart disease occurs, and potentially lead to better ways of diagnosing, treating and preventing the condition.”

The team is providing feedback of the preliminary results to each of the participating sites. This will be finalised early this year with the final results provided to stakeholders in a detailed written report and a plain language newsletter to all the participants.

 “The final feedback to the communities and participants and ongoing communication about outcomes of the research is so important” said Melita “We would like to thank all those people who contributed to our project.  We hope the model of consultation, informed consent, and governance established through the project can inform genetic studies with Indigenous people in the future.”

The project is funded by the National Health and Medical Research Council (NHMRC) and the Walter and Eliza Hall Institute of Medical Research (WEHI) and was conducted by researchers from Menzies School of Health Research, Telethon Kids Institute, University of Melbourne, University of Western Australia and the University of Wollongong.