1. The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery.
- Author
-
Phan TG, Gray PE, Wong M, Macintosh R, Burnett L, and Tangye SG
- Subjects
- Australasia epidemiology, Community Networks, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunogenetics, Precision Medicine, Primary Immunodeficiency Diseases epidemiology, Translational Research, Biomedical, Delivery of Health Care methods, Models, Economic, Primary Immunodeficiency Diseases genetics
- Abstract
The Clinical Immunogenomics Research Consortium Australasia (CIRCA) crowdsources expertise in medicine, genomics, data science, and fundamental biology to diagnose and treat patients with rare inborn errors of immunity. This distributed network model operates free of geographic borders and allows rapid progression through the full research/translation/clinical management pipeline, from initial gene variant discovery, through functional validation, and on to precision mechanism-based treatment of patients throughout Australia and New Zealand. The model is scalable and applicable to other rare diseases where clinical experience and scientific know-how are limited, and enables efficient delivery of genomics for all.
- Published
- 2020
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