Family study of ear health and metabolic diseases in a WA Aboriginal community

Jenefer M Blackwell, Sarra E Jamieson, Heather J Cordell, Denise Anderson, Michaela Fakiola, Elizabeth S H Scaman, Elizabeth Davis, Harvey L Coates, Shyan Vijayasekaran 


A family-based study of ear health and metabolic diseases has been underway since 2008 with the full support of the Aboriginal community serviced by the Ngangganawili Aboriginal Health Service (NAHS). 


A Memorandum of Understanding was established between NAHS and Telethon Kids Institute, and the study was approved by the Western Australian Aboriginal Health Ethics Committee (WAAHEC). 


Over the course of the project we drew up pedigree structures for the entire study population, and extracted trait data from the clinical records.  We completed 2.5M Illumina Duo SNP-chip analysis of the >400 post-QC individuals for whom a consented DNA sample was obtained and undertook genome-wide association analyses for type 2 diabetes, body mass index, and other related clinical traits. 


Analysis of data for otitis media phenotypes is in progress.  In addition, we re-sequenced the top candidate genes (from other global studies) for obesity and type 2 diabetes using Sanger sequencing on 95 affected individuals and found no obvious deleterious variants consistent with the results of the GWAS. 


We carried out exome sequencing on 72 individuals to identify potential functional variants in the genes shown to be associated with metabolic disease traits in our study population, and to search for deleterious variants associated with extreme phenotypes such as end stage renal disease.  Further analysis of these data is in progress. 


We engaged with community to provide information and feedback in culturally appropriate formats, including an art-based community educational project for feedback of scientific results and production of an animation that is available on YouTube as "The Goanna and the Journey of the Genes" (Martu and English versions). 


Clinical investigators on the project complemented clinical care by undertaking additional specialist clinics. 


All data from these specialist visits was recorded in the NAHS Communicare records for local clinical use.  We have provided feedback of scientific findings to the Board of NAHS, comprising Elders from all major families within the study population, and obtained their permission for publication of results in scientific and medical journals. 


In brief, we initiated one of the first projects to successfully bring modern genomics to aid in understanding the burden of disease in Aboriginal Australians.   Details of results are under pre-publication embargo, as per our memorandum of understanding with the community.



Funding: NHMRC

Team Members

Jenefer M Blackwell, Sarra E Jamieson, Heather J Cordell, Denise Anderson, Michaela Fakiola, Elizabeth S H Scaman, Elizabeth Davis, Harvey L Coates, Shyan Vijayasekaran

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