Search our extensive list of publications

Superbugs
Superbugs

Genomics-informed infection control can improve patient safety Sherry, et al. (2022)

Related publications
Knowledge translation

Implementation science should inform the design of genomic programs in mainstream care Brown, et al. (2022)

Related publications
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)

Related publications
Knowledge translation

Investigating the adoption of clinical genomics in Australia Best, et al. (2021)

Related publications
Education

Best practice in genomics education and evaluation Nisselle, et al. (2021)

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)

Related publications
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)

Related publications
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)

Subscribe

We could talk genomics all day, but we’ll send you only what’s useful and interesting.

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.

© 2014–2022 Melbourne Genomics Health Alliance