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When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
The objective of this scoping review is to understand the nature of the published evidence on housing suitability, affordability, insecurity, and homelessness in relation to physical and mental health, domestic violence, and health service use among Indigenous people in high-income countries.
Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations.
This research sought to describe a conceptual model of Aboriginal and Torres Strait Islander Community Controlled Health Organisation (ATSICCHO) primary health care, and the fundamental role ATSICCHOs exercise in addressing critical service gaps needed to achieve equitable outcomes for Aboriginal and Torres Strait Islander peoples.
Indigenous Australians have an increased risk of type 2 diabetes mellitus and premature cardiovascular disease. Subpopulations of high-density lipoprotein (HDL) have been associated with increased cardiovascular risk, but HDL composition, size, or function have not been studied in Indigenous Australians.
Indigenous communities are under-represented in genomics research, contributing to inequitable health-related knowledge, outcomes, and benefits. Under-representation reflects enduring consequences of colonial research practices that have engendered cultural, ethical, legal, and social (CELS) concerns among communities.
Acute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category.
Paediatric cancer is the leading cause of disease-related death in Australian children. Limited research focuses on cancer in Aboriginal and Torres Strait Islander children. Although there appears to be a lower incidence of cancer overall in Aboriginal and Torres Strait Islander children compared with non-Indigenous children, a high proportion of Aboriginal and Torres Strait Islander children are diagnosed with acute myeloid leukaemia.
Aboriginal and Torres Strait Islander women experience a disproportionate burden of hyperglycaemia in pregnancy. A multi-component health systems intervention aiming to improve antenatal and postpartum care was implemented across Australia’s Northern Territory (NT) and Far North Queensland (FNQ) between 2016 and 2019. Components included clinician education, improving recall systems, enhancing policies and guidelines, and embedding Diabetes in Pregnancy (DIP) Clinical Registers in systems of care. This program was evaluated to determine impacts on clinical practice and maternal health.
To examine researchers' reports of adherence to ethical principles in their most recent research project, including factors associated with higher self-reported adherence, and perceptions of how research conduct could be improved.