Australian Genomics
Australian Genomics evaluates and implements genomic testing in clinical healthcare settings through coordinated research projects and supporting genomic infrastructure programs.
Key Features:
- Clinical Genomic Testing Projects: Conducts prospective genomic testing studies within clinical contexts including rare diseases, cancer, and reproductive carrier screening.
- Federated Research Framework: Integrates contributions from multiple collaborating organizations to support coordinated genomic research and clinical translation.
- Genomic Healthcare Infrastructure: Develops supporting systems including diagnostic capabilities, health informatics frameworks, regulatory and ethical governance, and policy structures for genomic medicine.
- Translational Genomics Evaluation: Generates empirical data on the clinical utility and outcomes of genomic testing in healthcare practice.
Scientific Applications:
- Rare Disease Genomics: Applies genomic testing to identify genetic causes of rare diseases in clinical settings.
- Cancer Genomics: Evaluates genomic approaches for cancer diagnosis and treatment decision support.
- Reproductive Carrier Screening: Assesses genomic screening strategies for detecting inherited carrier status.
Methodology:
Australian Genomics conducts prospective genomic testing within exemplar clinical research projects and evaluates clinical outcomes while integrating diagnostic, informatics, regulatory, and ethical infrastructure to support genomic medicine implementation.
Topics
Collections
Details
- Added:
- 1/20/2021
- Last Updated:
- 5/13/2021
Operations
Publications
Stark Z, Boughtwood T, Phillips P, Christodoulou J, Hansen DP, Braithwaite J, Newson AJ, Gaff CL, Sinclair AH, North KN. Australian Genomics: A Federated Model for Integrating Genomics into Healthcare. The American Journal of Human Genetics. 2019;105(1):7-14. doi:10.1016/j.ajhg.2019.06.003. PMID:31271757. PMCID:PMC6612707.