|Mary-Anne Young||Bronwyn Terrill||Lauren McKnight||David Murray|
|Radhika Rajkumar||Angela Pearce||John Reeves (with Translational Genome Informatics)|
KCCG’s expertise is in genomic sequencing and analysis, which is increasingly being used as a way to diagnose and prevent disease. Although high-throughput genomic sequencing has led to a massive increase in the number of genomes sequenced, this has not translated into an equivalent increase in patients’ disease diagnosis and prevention. We term this discrepancy the ‘benefit-gap’.
The KCCG Clinical Translation and Education team contributes to reducing the benefit-gap by studying methods and strategies to enable genomic information to be translated into routine clinical practice for the benefit of patients. This includes educational programs and resources. Ultimately, this work aims to improve population health.
KCCG continues to undertake clinical research exploring the impact of genomic information for patients. We also develop and implement genomics education programs for clinicians, patients and the community as part of these translational research programs. The training of researchers in computing and bioinformatics has also become a focus of this program, aiming to provide a genomics-skilled workforce for Garvan and beyond, in partnership with the Translational Genomics team.
See Team Leader and KCCG Head (Clinical) Mary-Anne Young talk about the lifelong value of genomic information.
Key projects of the Clinical Translation and Education team include:
Liquid Biopsy -- Tissue of Origin: identifying novel tissue-specific cell free DNA biomarkers that can be used in organ transplant monitoring and in management of disease including chronic kidney disease and acute kidney injury.
MyResearchResults: informing participants of clinically-actionable information arising from genomic research.
Pharmacogenomics survey and implementation: understanding knowledge, use and attitudes towards pharmacogenomic testing within a hospital setting to inform an implementation trial.
PRIMO: assessing the feasibility and impact of using PRS information to improve women’s breast cancer risk management through a national randomised control trial.
Automated variant prioritization: improving our ability to interpret and quickly prioritise genomic variants to ensure genomic information is able to be immediately translated into patient care.
Bioinformatics Education: building a skilled workforce with robust skills in computational analysis.
These programs build on previous Genomics Education Resources now available on Garvan’s DNAbase, including:
- Genomics in schools,
- Genomics education for healthcare professionals
- Genomics in the community