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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.
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.
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.
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.
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.
Fuelled by the tobacco industry, commercial tobacco use is a major cause of preventable morbidity and mortality among Aboriginal and Torres Strait Islander peoples. Preventing adolescent smoking initiation is critical to reducing uptake. Understanding individual, social, and environmental factors that are protective against smoking can inform prevention strategies.
To examine self-reported practices for obtaining ethics approval and reflections on ethics application processes among researchers who have conducted Aboriginal and Torres Strait Islander health and medical research.
Adolescent sexual and reproductive health and rights (ASRHR) policy has strengthened globally over the last three decades, but country-level barriers to implementation perpetuate health inequities for adolescent girls. In Vietnam, implementation of ASRHR policy remains challenged by persisting structural and socio-cultural issues and has yet to reduce the high prevalence of adolescent pregnancy in ethnic minority communities.
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.
There is a growing understanding of how Aboriginal and Torres Strait Islander peoples in Australia define healthy ageing. Little is known however about how aged care services can support their healthy ageing needs. Therefore, the aim of this study was to explore community and service provider perspectives on how home-based and residential aged care services can best support the healthy ageing needs of Aboriginal and Torres Strait Islander peoples.