Frontiers in Pediatrics (Dec 2020)
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations
- Carla S. D'Angelo,
- Azure Hermes,
- Christopher R. McMaster,
- Elissa Prichep,
- Étienne Richer,
- Francois H. van der Westhuizen,
- Gabriela M. Repetto,
- Gong Mengchun,
- Helen Malherbe,
- Helen Malherbe,
- Juergen K. V. Reichardt,
- Laura Arbour,
- Maui Hudson,
- Kelly du Plessis,
- Melissa Haendel,
- Phillip Wilcox,
- Sally Ann Lynch,
- Sally Ann Lynch,
- Shamir Rind,
- Simon Easteal,
- Xavier Estivill,
- Yarlalu Thomas,
- Gareth Baynam,
- Gareth Baynam,
- Gareth Baynam,
- Gareth Baynam,
- Gareth Baynam,
- Gareth Baynam,
- Gareth Baynam,
- Gareth Baynam
Affiliations
- Carla S. D'Angelo
- IRDiRC Scientific Secretariat, National Institute for Health and Medical Research, Paris, France
- Azure Hermes
- National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia
- Christopher R. McMaster
- Department of Pharmacology, Dalhousie University, Halifax, NS, Canada
- Elissa Prichep
- Precision Medicine, Platform on Shaping the Future of Health and Healthcare, World Economic Forum, San Francisco, CA, United States
- Étienne Richer
- Institute of Genetics, Canadian Institutes of Health Research, Government of Canada, Ottawa, ON, Canada
- Francois H. van der Westhuizen
- Human Metabolomics, North-West University, Potchefstroom, South Africa
- Gabriela M. Repetto
- Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile
- Gong Mengchun
- Institute of Health Management, Southern Medical University, Guangdong, China
- Helen Malherbe
- KwaZulu-Natal Research Innovation and Sequencing Platform, University of KwaZulu-Natal, Durban, South Africa
- Helen Malherbe
- 0Rare Diseases South Africa, Johannesburg, South Africa
- Juergen K. V. Reichardt
- 1Australian Institute of Tropical Health and Medicine, James Cook University, Smithfield, QLD, Australia
- Laura Arbour
- 2Department of Medical Genetics, University of British Columbia, Victoria, BC, Canada
- Maui Hudson
- 3Faculty of Maori and Indigenous Studies, University of Waikato, Hamilton, New Zealand
- Kelly du Plessis
- 0Rare Diseases South Africa, Johannesburg, South Africa
- Melissa Haendel
- 4Oregon Clinical and Translational Research Institute, Oregon Health and Science University, Portland, OR, United States
- Phillip Wilcox
- 5Department of Mathematics and Statistics, University of Otago, Dunedin, New Zealand
- Sally Ann Lynch
- 6National Rare Disease Office, Mater Misericordiae University Hospital, Dublin, Ireland
- Sally Ann Lynch
- 7Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland
- Shamir Rind
- 8Western Australian Register of Developmental Anomalies, Perth, WA, Australia
- Simon Easteal
- National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia
- Xavier Estivill
- 9Quantitative Genomics Laboratories (qgenomics), Esplugues de Llobregat, Barcelona, Spain
- Yarlalu Thomas
- 8Western Australian Register of Developmental Anomalies, Perth, WA, Australia
- Gareth Baynam
- 8Western Australian Register of Developmental Anomalies, Perth, WA, Australia
- Gareth Baynam
- 0Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia
- Gareth Baynam
- 1Faculty of Health and Medicine, Division of Pediatrics, University of Western Australia, Perth, WA, Australia
- Gareth Baynam
- 2Telethon Kids Institute, University of Western Australia, Perth, WA, Australia
- Gareth Baynam
- 3Faculty of Medicine, University of Notre Dame, Fremantle, WA, Australia
- Gareth Baynam
- 4Faculty of Science and Engineering, Spatial Sciences, Curtin University, Perth, WA, Australia
- Gareth Baynam
- 5Faculty of Medicine, Notre Dame University, Perth, WA, Australia
- Gareth Baynam
- 6School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia
- DOI
- https://doi.org/10.3389/fped.2020.579924
- Journal volume & issue
-
Vol. 8
Abstract
Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them. Herein, we provide an overview of the state of play of current barriers and considerations identified by the taskforce, to further stimulate awareness of these issues and the passage toward solutions. We focus on analyzing barriers to accessing genetic services, participating in genomic research, and other aspects such as concerns about data sharing, the handling of biospecimens, and the importance of capacity building.
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