Aboriginal Genetics and Health Studies based at the Telethon Kids Institute, Perth, Western Australia
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ABSTRACT:
PROVIDER: EGAC00001000261 | EGA |
REPOSITORIES: EGA
Publications
Reference genotype and exome data from an Australian Aboriginal population for health-based research.
Tang Dave D Anderson Denise D Francis Richard W RW Syn Genevieve G Jamieson Sarra E SE Lassmann Timo T Blackwell Jenefer M JM
Scientific data 20160412
Genetic analyses, including genome-wide association studies and whole exome sequencing (WES), provide powerful tools for the analysis of complex and rare genetic diseases. To date there are no reference data for Aboriginal Australians to underpin the translation of health-based genomic research. Here we provide a catalogue of variants called after sequencing the exomes of 72 Aboriginal individuals to a depth of 20X coverage in ∼80% of the sequenced nucleotides. We determined 320,976 single nucle ...[more]
Similar Datasets
Project description:In Australia, children living in remote Aboriginal communities experience high rates of skin infections and associated complications. Prompt presentation to primary care health services is crucial for early diagnosis and treatment. We performed a qualitative study in four remote Aboriginal communities in the Pilbara region of Western Australia to explore factors that affected health service utilisation for childhood skin infections in this setting. The study consisted of semistructured interviews and focus group discussions with parents and carers (n = 16), healthcare practitioners (n = 15) and other community service providers (n = 25). We used Andersen's health service utilisation model as an analytical framework. Our analysis captured a wide range of barriers that may undermine timely use of health services for childhood skin infections. These included general factors that illustrate the importance of cultural competency amongst healthcare providers, patient-centred care and community engagement. Relating specifically to health service utilisation for childhood skin infections, we identified their apparent normalisation and the common use of painful benzathine penicillin G injections for their treatment as important barriers. Health service utilisation in this setting may be enhanced by improving general awareness of the significance of childhood skin infections, actively engaging parents and carers in consultation and treatment processes and strengthening community involvement in health service activities.
| S-EPMC7037003 | biostudies-literature
Project description:The Kimberley region in Western Australia hosts one of the world’s most substantial bodies of indigenous rock art thought to extend in a series of stylistic or iconographic phases from the present day back into the Pleistocene. As with other rock art worldwide, the older styles have proven notoriously difficult to date quantitatively, requiring new scientific approaches. Here, we present the radiocarbon ages of 24 mud wasp nests that were either over or under pigment from 21 anthropomorphic motifs of the Gwion style (previously referred to as “Bradshaws”) from the middle of the relative stylistic sequence. We demonstrate that while one date suggests a minimum age of c. 17 ka for one motif, most of the dates support a hypothesis that these Gwion paintings were produced in a relatively narrow period around 12,000 years ago.
| S-EPMC7002160 | biostudies-literature
Project description:Data Access Committee EGAC00001001086
| EGAC00001001086 | EGA
Project description:Data Access Committee EGAC00001000465
| EGAC00001000465 | EGA
Project description:BackgroundDiabetes in pregnancy (DIP), which includes pre-gestational and gestational diabetes, is more prevalent among Aboriginal women. DIP and its adverse neonatal outcomes are associated with diabetes and cardiovascular disease in the offspring. This study investigated the impact of DIP on trends of large for gestational age (LGA) in Aboriginal and non-Aboriginal populations, and added to the limited evidence on temporal trends of DIP burden in these populations.MethodsWe conducted a retrospective cohort study that included all births in Western Australia between 1998 and 2015 using linked population health datasets. Time trends of age-standardised and crude rates of pre-gestational and gestational diabetes were estimated in Aboriginal and non-Aboriginal mothers. Mixed-effects multivariable logistic regression was used to estimate the association between DIP and population LGA trends over time.ResultsOver the study period, there were 526,319 births in Western Australia, of which 6.4% were to Aboriginal mothers. The age-standardised annual rates of pre-gestational diabetes among Aboriginal mothers rose from 4.3% in 1998 to 5.4% in 2015 and remained below 1% in non-Aboriginal women. The comparable rates for gestational diabetes increased from 6.7 to 11.5% over the study period in Aboriginal women, and from 3.5 to 10.2% among non-Aboriginal mothers. LGA rates in Aboriginal babies remained high with inconsistent and no improvement in pregnancies complicated by gestational diabetes and pre-gestational diabetes, respectively. Regression analyses showed that DIP explained a large part of the increasing LGA rates over time in Aboriginal babies.ConclusionsThere has been a substantial increase in the burden of pre-gestational diabetes (Aboriginal women) and gestational diabetes (Aboriginal and non-Aboriginal) in recent decades. DIP appears to substantially contribute to increasing trends in LGA among Aboriginal babies.
| S-EPMC8827280 | biostudies-literature
Project description:IntroductionThe delivery of services to improve Aboriginal health and well-being must centre culture and integrate a social and emotional well-being understanding and approaches. These approaches are essential in increasing access to, and engagement with, health services, as well as ensuring culturally safe, person-centred and community-centred care. This study will evaluate the Aboriginal Health Council of Western Australia's social and emotional well-being model of service being piloted in five Aboriginal Community Controlled Health Services across five of Western Australia's regions. The model of service includes the establishment of interdisciplinary social and emotional well-being teams and a four-pillar approach to service delivery.Methods and analysisAn Aboriginal Participatory Action Research methodology will be undertaken which calls for Indigenous leadership and governance, capacity-building of community co-researchers and engagement in reflexive practice. The evaluation will take a mixed-methods approach to data collection, including at each pilot site, yarns with up to five clients engaging with social and emotional well-being services; qualitative interviews with up to five service providers at each site, and up to five key knowledge holders from stakeholders including funders and commissioning bodies; the collection of clinical data; facilitated discussion using the social and emotional well-being Systems Assessment Tool; and document analysis and cost-estimation. Analysis will be guided by a client journey mapping framework, and data will be collectively analysed through a socioecological framework to understand the connections and inter-relatedness between client outcomes and experiences, social and emotional well-being team and service provider experiences, service systems and governance structures.Ethics and disseminationThis evaluation was approved by the Western Australian Aboriginal Health Ethics Committee (HREC1204). The findings will be disseminated through the production of an evaluation report and academic publications and presentations. Findings will also be disseminated through community forums and plain language summaries. These outputs will detail evaluation findings and recommendations, the process of evaluation through an Aboriginal Participatory Action Research approach and the collaborative stakeholder relationship-building that underpinned the project.
| S-EPMC10565315 | biostudies-literature
Project description:In May, 2017, an outbreak of rotavirus gastroenteritis was reported that predominantly impacted Aboriginal children ≤4 years of age in the Kimberley region of Western Australia. G2P[4] was identified as the dominant genotype circulating during this period and polyacrylamide gel electrophoresis revealed the majority of samples exhibited a conserved electropherotype. Full genome sequencing was performed on representative samples that exhibited the archetypal DS-1-like genome constellation: G2-P[4]-I2-R2-C2-M2-A2-N2-T2-E2-H2 and phylogenetic analysis revealed all genes of the outbreak samples were closely related to contemporary Japanese G2P[4] samples. The outbreak samples consistently fell within conserved sub-clades comprised of Hungarian and Australian G2P[4] samples from 2010. The 2017 outbreak variant was not closely related to G2P[4] variants associated with prior outbreaks in Aboriginal communities in the Northern Territory. When compared to the G2 component of the RotaTeq vaccine, the outbreak variant exhibited mutations in known antigenic regions; however, these mutations are frequently observed in contemporary G2P[4] strains. Despite the level of vaccine coverage achieved in Australia, outbreaks continue to occur in vaccinated populations, which pose challenges to regional areas and remote communities. Continued surveillance and characterisation of emerging variants are imperative to ensure the ongoing success of the rotavirus vaccination program in Australia.
| S-EPMC8002226 | biostudies-literature
Project description:BackgroundAboriginal people have a disproportionately higher incidence rate of ischaemic heart disease (IHD) than non-Aboriginal people. The findings on Aboriginal disparity in receiving coronary artery procedures are inconclusive. We describe the profile and transfers of IHD patients admitted to rural hospitals as emergency admissions and investigate determinants of transfers and coronary angiography.MethodsPerson-linked hospital and mortality records were used to identify 28-day survivors of IHD events commencing at rural hospitals in Western Australia. Outcome measures were receipt of coronary angiography, transfer to a metropolitan hospital, and coronary angiography if transferred to a metropolitan hospital.ResultsCompared to non-Aboriginal patients, Aboriginal patients with IHD were more likely to be younger, have more co-morbidities, reside remotely, but less likely to have private insurance. After adjusting for demographic characteristics, Aboriginal people with MI were less likely to be transferred to a metropolitan hospital, and if transferred were less likely to receive coronary angiography. These disparities were not significant after adjusting for comorbidities and private insurance. In the full multivariate model age, comorbidities and private insurance were adversely associated with transfer to a metropolitan hospital and coronary angiography.ConclusionDisparity in receiving coronary angiography following emergency admission for IHD to rural hospitals is mediated through the lower likelihood of being transferred to metropolitan hospitals where this procedure is performed. The likelihood of a transfer is increased if the patient has private insurance, however, rural Aboriginal people have a lower rate of private insurance than their non-Aboriginal counterparts. Health practitioners and policy makers can continue to claim that they treat Aboriginal and non-Aboriginal people alike based upon clinical indications, as private insurance is acting as a filter to reduce rural residents accessing interventional cardiology. If health practitioners and policy makers are truly committed to reducing health disparities, they must reflect upon the broader systems in which disparity is perpetuated and work towards a systems improvement.
| S-EPMC4021447 | biostudies-literature
Project description: Not available
| S-EPMC11340071 | biostudies-literature
Project description:ObjectiveThis study examines the scale of maternal mental health related contacts among Australian Aboriginal children over time, and associations with socio-economic characteristics, geographical remoteness and maternal age.DesignA retrospective cohort study of the prevalence of maternal mental health related contacts among Aboriginal children born in Western Australia between 1990 and 2013.SettingPopulation of Western Australia with de-identified linked administrative data from the Western Australian Department of Health.ParticipantsAll Aboriginal children born in Western Australia between 1990 and 2013 and their mothers.Primary outcome measurePrevalence of maternal mental health related contacts among Aboriginal children born between 1990 and 2013. Mental health related contacts were identified using mental health related inpatient hospitalisations and outpatient contacts.ResultsAlmost 30% of cohort children were born to a mother with at least one mental health contact in the 5 years prior to birth, with 15% reported in the year prior to birth and the year post birth. There was a distinct increase in the prevalence of maternal mental health contacts between 1990 and 2013 (4-5% per year, with a peak in 2007). Maternal mental health contacts were associated with living in more disadvantaged areas and major cities, and having a mother aged over 20 years at birth.ConclusionsThe study affirms that mental health issues place a considerable burden on Aboriginal Australia, and suggests that many of the mental health issues that women develop earlier in life are chronic at the time of conception, during pregnancy and at birth. Early intervention and support for women in the earliest stages of family planning are required to alleviate the burden of mental health problems at birth and after birth. There is a clear need for policies on the development of a holistic healthcare model, with a multisector approach, offering culturally appropriate services for Aboriginal people.
| S-EPMC6615791 | biostudies-literature