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The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery

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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.

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Acknowledgments

We thank the patients and their families and all the members of CIRCA who inspire our work. We also thank our colleagues and mentors Stephen Adelstein, Tony Basten, Tony Kelleher, Elissa Deenick, and Warren Kaplan for their critical discussions and comments on the manuscript. We thank Kate Patterson and Karen Enthoven for help with the artwork. The work by CIRCA detailed here was funded by the NSW Department of Health Office of Health and Medical Research, the John Brown Cook Foundation, the Ross Trust, the Jeffrey Modell Foundation, the Allergy and Immunodeficiency Foundation of Australia (AIFA), the St Vincent’s Clinic Foundation, the Garvan-Weizmann Foundation and the Sydney Partnership for Health, Education, Research and Enterprise (SPHERE), and NHMRC (1060303, 1088215, 1127157, 1139865). TGP is a recipient of an NHMRC Senior Research Fellowship (1155678). SGT is the recipient of an NHMRC Senior Investigator Award (1176665).

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Authors and Affiliations

  1. Immunity and Inflammation Theme, Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, New South Wales, 2010, Australia

    Tri Giang Phan & Stuart G. Tangye

  2. St Vincent’s Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, New South Wales, Australia

    Tri Giang Phan, Leslie Burnett & Stuart G. Tangye

  3. Department of Immunology and Allergy, Sydney Children’s Hospital, Randwick, Sydney, New South Wales, Australia

    Paul E. Gray

  4. School of Women’s and Children Health, Faculty of Medicine, UNSW Sydney, Sydney, New South Wales, Australia

    Paul E. Gray & Rebecca Macintosh

  5. Department of Immunology and Allergy, Children’s Hospital at Westmead, Sydney, New South Wales, Australia

    Melanie Wong

  6. Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia

    Melanie Wong & Leslie Burnett

  7. Centre for Clinical Genetics, Sydney Children’s Hospital, Randwick, Sydney, New South Wales, Australia

    Rebecca Macintosh

  8. The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia

    Leslie Burnett

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  1. Tri Giang Phan
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  2. Paul E. Gray
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  3. Melanie Wong
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  4. Rebecca Macintosh
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  5. Leslie Burnett
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  6. Stuart G. Tangye
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Correspondence to Tri Giang Phan.

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Introline

CIRCA provides a distributed network that integrates clinical and scientific expertise to make genomic diagnoses

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Phan, T.G., Gray, P.E., Wong, M. et al. The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery. J Clin Immunol 40, 763–766 (2020). https://doi.org/10.1007/s10875-020-00787-6

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  • DOI: https://doi.org/10.1007/s10875-020-00787-6

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