When and how to offer additional genomic findings remains complex and linked to specific contexts. Martyn, et al. (2024)
Genetic counsellors' roles are evolving beyond clinical genetics services. Do, et al. (2024)
A visual genomic explainer can support paediatricians integrate genomic testing into their practice. Butler, et al. (2024)
Patients who receive complex genomic testing are generally satisfied and place value on its use beyond immediate care. Smith, et al. (2024)
Patients' willingness to share their data should encourage clinical laboratories to consider systematic data sharing for secondary uses. Martyn, et al. (2024)
Parental preferences and values for receiving additional genomic findings Goranitis et al. (2024)
What matters to parents when receiving genetic testing? Crellin, et al. (2023)
Enabling evidence sharing across clinical genetic testing laboratories Tudini, et al. (2022)
Genomics-informed infection control can improve patient safety Sherry, et al. (2022)
Implementation science should inform the design of genomic programs in mainstream care Brown, et al. (2022)
Transforming the genomics workforce is key to high-value care Long, et al. (2022)
Clinician's views and experiences on genomic testing for infants with deafness Notini, et al. (2022)
Developing an optimised framework to help stem the spread of deadly superbugs Higgs, et al. (2022)
Investigating the adoption of clinical genomics in Australia Best, et al. (2021)
Guidelines on the use of genomics to stop hospital superbugs Gorrie, et al. (2021)
What parents value about genomic testing for deafness Tutty, et al. (2021)
Genomics saves $3,230 per additional diagnosis Jayasinghe, et al. (2021)
Genomics can prevent and help manage hospital superbug outbreaks Sherry, et al. (2021)
Making community voices heard in health service translation research Wale, et al. (2021)
Case report: Tofacitinib did not improve clinical response to treatment in a patient with leukaemia Wong, et al. (2020)
Bioinformatics software helps create new testing pipelines faster Milton & Thorne (2020)
Immersion learning drives wider adoption of genomic medicine Martyn, et al. (2020)
Diagnosis of the type of bone marrow failure changed for 1 in 4 patients, providing critical information for their care Blombery, et al. (2020)
Genomic testing is an effective diagnostic tool for patients with dilated cardiomyopathy Ramchand, et al. (2020)
Real-world perspective on newborn genomic screening Downie, et al. (2020)
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)
Compared to historical testing, genomic sequencing saves $3,602 per child and doubles the number of children diagnosed Yeung, et al. (2020)
50% received informative results; care changed for two-thirds of patients Jayasinghe, et al. (2020)
Modelling the cost of delivering additional findings in routine practice Vu, et al. (2020)
First-of-its-kind chatbot developed to support genetic counselling for additional findings Ireland, et al. (2020)
Genomic sequencing is cost-effective for deafness; results in 2x as many diagnoses Downie, et al. (2020)
Genomics ends diagnostic odysseys; care for two-thirds of patients changed Eratne, et al. (2020)
Data, computing and digital health requirements to implement genomic medicine Hansen, et al. (2019)
Guidelines on the investigation and care of childhood hearing loss Sung, et al. (2019)
GenoVic: The first clinical-grade system to support the end-to-end workflow for a genomic test Thorne, et al. (2019)
Study protocol: Offering additional genomic findings in the healthcare system Martyn, et al. (2019)
Study protocol: Integrating genomics into healthcare Taylor, et al. (2019)
Study protocol: Clinical utility of genomics in genetic kidney disease Jayasinghe, et al. (2019)
Long-term factors improve the cost-effectiveness of genomic sequencing Schofield, et al. (2019)
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)
Trio testing more than halves the time doctors need to find a result Tan, et al. (2019)
Almost 3x the number of babies born with deafness had the cause identified following genomic testing Downie, et al. (2019)
Case report: Poor outcomes following immunotherapy in a patient with suspected MS later diagnosed with a CTLA-4 deficiency Watson, et al. (2018)
Case reports: Variability in Brown-Vialetto-van Laere Syndrome Woordrock, et al. (2018)
Exome sequencing is superior to panel testing for children with a suspected genetic condition Dillon, et al. (2018)
Rapid genomic sequencing delivered results 10x faster for critically ill babies, with more than half diagnosed Stark, et al. (2018)
Characterisation of predominantly antibody deficiency patients in Victoria: diagnosis and management Slade, et al. (2018)
Early use of genomic sequencing improves diagnosis and care and is more cost-effective Stark, et al. (2018)
Clinician requirements for genomic decision support tools Bradford, et al. (2017)
Study protocol: Clinical utility of genomic testing for congenital deafness Downie, et al. (2017)
Workshop summary: including diverse populations in genomic health services research Matthew, et al. (2017)
A model whole-of-system change approach to support application of genomics in healthcare Gaff, et al. (2017)
Clinically driven variant prioritisation increases efficiency of genomic data analysis Stark, et al. (2017)
Genomic testing is an effective diagnostic tool for focal epilepsies and can influence care Perucca, et al. (2017)
Genomic sequencing has high diagnostic utility for patients with neuropathy and can save health dollars Walsh, et al. (2017)
Genomic sequencing triples the diagnostic rate for one-third the cost Stark, et al. (2017)
Genomic testing diagnosed over 50% of the cohort, with 35% of the diagnoses unexpected Tan, et al. (2017)
Investigating bioinformatic tools for testing genetic variation in (HLA) immune genes Bauer, et al. (2016)
Genomic sequencing led to 4x more diagnoses for rare childhood diseases Stark, et al. (2016)
Cpipe: A bioinformatics pipeline for clinical genomic testing Sadedin, et al. (2015)
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.