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Knowledge translation
Implementation science should inform the design of genomic programs in mainstream care Brown, et al. (2022)
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Knowledge translation
Transforming the genomics workforce is key to high-value care Long, et al. (2022)
Evidence for genomics
Congenital deafness
Clinician's views and experiences on genomic testing for infants with deafness Notini, et al. (2022)
Superbugs
Superbugs
Developing an optimised framework to help stem the spread of deadly superbugs Higgs, et al. (2022)
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Knowledge translation
Investigating the adoption of clinical genomics in Australia Best, et al. (2021)
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Implementation
Superbugs
Guidelines on the use of genomics to stop hospital superbugs Gorrie, et al. (2021)
Evidence for genomics
Congenital deafness
What parents value about genomic testing for deafness Tutty, et al. (2021)
Evidence for genomics
Genetic kidney disease
Genomics saves $3,230 per additional diagnosis Jayasinghe, et al. (2021)
Superbugs
Superbugs
Genomics can prevent and help manage hospital superbug outbreaks Sherry, et al. (2021)
Implementation
Community engagement
Making community voices heard in health service translation research Wale, et al. (2021)
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Non-Hodgkin lymphoma
Case report: Tofacitinib did not improve clinical response to treatment in a patient with leukaemia Wong, et al. (2020)
Genomic information management
Bioinformatics
Bioinformatics software helps create new testing pipelines faster Milton & Thorne (2020)
Implementation
Education
Immersion learning drives wider adoption of genomic medicine Martyn, et al. (2020)
Evidence for genomics
Bone marrow failure
Diagnosis of the type of bone marrow failure changed for 1 in 4 patients, providing critical information for their care Blombery, et al. (2020)
Evidence for genomics
Dilated cardiomyopathy
Genomic testing is an effective diagnostic tool for patients with dilated cardiomyopathy Ramchand, et al. (2020)
Evidence for genomics
Congenital deafness
Real-world perspective on newborn genomic screening Downie, et al. (2020)
Evidence for genomics
Dilated cardiomyopathy
Mapping a condition-specific quality of life questionnaire to a standard QoL instrument to support its use in health economic evaluation Catchpool, et al. (2020)
Evidence for genomics
Complex genetic conditions of children
Compared to historical testing, genomic sequencing saves $3,602 per child and doubles the number of children diagnosed Yeung, et al. (2020)
Evidence for genomics
Genetic kidney disease
50% received informative results; care changed for two-thirds of patients Jayasinghe, et al. (2020)
Implementation
Additional findings
Modelling the cost of delivering additional findings in routine practice Vu, et al. (2020)
Implementation
Additional findings
First-of-its-kind chatbot developed to support genetic counselling for additional findings Ireland, et al. (2020)
Evidence for genomics
Congenital deafness
Genomic sequencing is cost-effective for deafness; results in 2x as many diagnoses Downie, et al. (2020)
Evidence for genomics
Complex neurological and neurodegenerative diseases
Genomics ends diagnostic odysseys; care for two-thirds of patients changed Eratne, et al. (2020)
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Genomic data
Data, computing and digital health requirements to implement genomic medicine Hansen, et al. (2019)
Related publications
Congenital deafness
Guidelines on the investigation and care of childhood hearing loss Sung, et al. (2019)
Genomic information management
GenoVic
GenoVic: The first clinical-grade system to support the end-to-end workflow for a genomic test Thorne, et al. (2019)
Implementation
Additional findings
Study protocol: Offering additional genomic findings in the healthcare system Martyn, et al. (2019)
Implementation
Knowledge translation
Study protocol: Integrating genomics into healthcare Taylor, et al. (2019)
Implementation
Genetic kidney disease
Study protocol: Clinical utility of genomics in genetic kidney disease Jayasinghe, et al. (2019)
Evidence for genomics
Childhood syndromes
Long-term factors improve the cost-effectiveness of genomic sequencing Schofield, et al. (2019)
Evidence for genomics
Dilated cardiomyopathy
Genomics is a more cost-effective way of identifying which relatives need ongoing medical monitoring in families with inherited dilated cardiomyopathy Catchpool, et al. (2019)
Evidence for genomics
Complex genetic conditions of children
Trio testing more than halves the time doctors need to find a result Tan, et al. (2019)
Evidence for genomics
Congenital deafness
Almost 3x the number of babies born with deafness had the cause identified following genomic testing Downie, et al. (2019)
Related publications
Immunology
Case report: Poor outcomes following immunotherapy in a patient with suspected MS later diagnosed with a CTLA-4 deficiency Watson, et al. (2018)
Related publications
Childhood syndromes
Case reports: Variability in Brown-Vialetto-van Laere Syndrome Woordrock, et al. (2018)
Evidence for genomics
Childhood syndromes
Exome sequencing is superior to panel testing for children with a suspected genetic condition Dillon, et al. (2018)
Evidence for genomics
Complex genetic conditions of children
Rapid genomic sequencing delivered results 10x faster for critically ill babies, with more than half diagnosed Stark, et al. (2018)
Related publications
Immunology
Characterisation of predominantly antibody deficiency patients in Victoria: diagnosis and management Slade, et al. (2018)
Evidence for genomics
Childhood syndromes
Early use of genomic sequencing improves diagnosis and care and is more cost-effective Stark, et al. (2018)
Genomic information management
GenoVic
Clinician requirements for genomic decision support tools Bradford, et al. (2017)
Implementation
Congenital deafness
Study protocol: Clinical utility of genomic testing for congenital deafness Downie, et al. (2017)
Implementation
Community engagement
Workshop summary: including diverse populations in genomic health services research Matthew, et al. (2017)
Implementation
Demonstration Project
A model whole-of-system change approach to support application of genomics in healthcare Gaff, et al. (2017)
Evidence for genomics
Childhood syndromes
Clinically driven variant prioritisation increases efficiency of genomic data analysis Stark, et al. (2017)
Evidence for genomics
Focal epilepsy
Genomic testing is an effective diagnostic tool for focal epilepsies and can influence care Perucca, et al. (2017)
Evidence for genomics
Hereditary neuropathy
Genomic sequencing has high diagnostic utility for patients with neuropathy and can save health dollars Walsh, et al. (2017)
Evidence for genomics
Childhood syndromes
Genomic sequencing triples the diagnostic rate for one-third the cost Stark, et al. (2017)
Evidence for genomics
Childhood syndromes
Genomic testing diagnosed over 50% of the cohort, with 35% of the diagnoses unexpected Tan, et al. (2017)
Genomic information management
Bioinformatics
Investigating bioinformatic tools for testing genetic variation in (HLA) immune genes Bauer, et al. (2016)
Evidence for genomics
Childhood syndromes
Genomic sequencing led to 4x more diagnoses for rare childhood diseases Stark, et al. (2016)
Genomic information management
Bioinformatics
Cpipe: A bioinformatics pipeline for clinical genomic testing Sadedin, et al. (2015)
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Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.