[HTML][HTML] Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Z Stark, T Boughtwood, M Haas, J Braithwaite… - The American Journal of …, 2023 - cell.com
Australian Genomics is a national collaborative partnership of more than 100 organizations
piloting a whole-of-system approach to integrating genomics into healthcare, based on …

[HTML][HTML] The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

GA Alarcón Garavito, T Moniz, N Deom… - European Journal of …, 2023 - nature.com
Genomic healthcare programmes, both in a research and clinical context, have
demonstrated a pivotal opportunity to prevent, diagnose, and treat rare diseases. However …

[HTML][HTML] Patient-derived explants as a precision medicine patient-proximal testing platform informing cancer management

AR Templeton, PL Jeffery, PB Thomas… - Frontiers in …, 2021 - frontiersin.org
Precision medicine approaches that inform clinical management of individuals with cancer
are progressively advancing. Patient-derived explants (PDEs) provide a patient-proximal ex …

Using genomics to investigate an outbreak of vancomycin-resistant Enterococcus faecium ST78 at a large tertiary hospital in Queensland

B Permana, PNA Harris, N Runnegar… - Microbiology …, 2023 - Am Soc Microbiol
To investigate an outbreak of vancomycin-resistant Enterococcus faecium (VREfm)
sequence type 78 (ST78) in a large tertiary Australian hospital. A collection of 63 VREfm …

Phylodynamic inference of bacterial outbreak parameters using nanopore sequencing

E Steinig, S Duchêne, I Aglua… - Molecular biology …, 2022 - academic.oup.com
Nanopore sequencing and phylodynamic modeling have been used to reconstruct the
transmission dynamics of viral epidemics, but their application to bacterial pathogens has …

[HTML][HTML] Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders

A Díaz-de Usera, LA Rubio-Rodríguez… - Scientific Reports, 2022 - nature.com
The current inhabitants of the Canary Islands have a unique genetic makeup in the
European diversity landscape due to the existence of African footprints from recent …

Early cost–utility analysis of genetically guided therapy for patients with drug‐resistant epilepsy

LG Gordon, TM Elliott, C Bennett, G Hollway… - …, 2022 - Wiley Online Library
Objective Existing gene panels were developed to understand the etiology of epilepsy, and
further benefits will arise from an effective pharmacogenomics panel for personalizing …

[HTML][HTML] Evolution of virtual gene panels over time and implications for genomic data re-analysis

AJ Robertson, K Tran, C Patel, C Sullivan… - Genetics in Medicine …, 2023 - Elsevier
Purpose Re-analyzing genomic information from patients without a molecular diagnosis is
known to improve diagnostic yields. There are different mechanisms responsible for this …

[HTML][HTML] Evaluation of a genetics education program for health Interpreters: A pilot study

ME Vidgen, LF Fowles, SN Istiko, E Evans… - Frontiers in …, 2022 - frontiersin.org
Health Interpreters enable effective communication between health practitioners and
patients with limited knowledge of the predominant language. This study developed and …

[HTML][HTML] Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

K Jayasinghe, E Biros, T Harris, A Wood… - Kidney International …, 2024 - Elsevier
Introduction Diagnostic genomic sequencing is the emerging standard of care in
nephrology. There is a growing need to scale up the implementation of genomic diagnostics …