A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance (VUS) in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease (CHD).

Methods: Between April 2019 and December 2021, 600 probands meeting cardiovascular disorder criteria from 17 cardiology and genetics clinics across Australia were enrolled in the Flagship and underwent GS.

Interpreting Context in Rural and Remote Aged Care Facilities in Readiness for a New Care Model: A Mixed Method Study.

Background: Geographical isolation compounds limited access to healthcare services and skilled workforce for the provision of rural aged care. Residents have complex chronic disease management and end-of-life care needs. An undersupply of general medical practitioners due to retirement, attrition or unfilled training places in Australia has impacted recruitment to rural areas.

Diagnostic Test Characteristics of Ultrasound-Based Hydronephrosis for Chronic Kidney Disease in Children and Adolescents With Myelomeningocele: Results From the UMPIRE and NSBPR Cohort Studies.

Purpose: Renal ultrasounds are performed in patients with myelomeningocele to screen for markers of kidney health, including hydronephrosis. We evaluated the diagnostic accuracy of hydronephrosis to screen for low kidney function defined by estimated glomerular filtration rate (eGFR).

Materials And Methods: We performed a retrospective cross-sectional study using data from 2 cohorts of children and youth with myelomeningocele.

Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.

The role of genomic testing in rare disease clinical management is growing. However, geographical and socioeconomic factors contribute to inequitable uptake of testing. Geographical investigations of genomic testing across Australia have not been undertaken.

Nationwide, Couple-Based Genetic Carrier Screening.

Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.

Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.