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      Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

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          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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          Most cited references 72

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          The FAIR Guiding Principles for scientific data management and stewardship

          There is an urgent need to improve the infrastructure supporting the reuse of scholarly data. A diverse set of stakeholders—representing academia, industry, funding agencies, and scholarly publishers—have come together to design and jointly endorse a concise and measureable set of principles that we refer to as the FAIR Data Principles. The intent is that these may act as a guideline for those wishing to enhance the reusability of their data holdings. Distinct from peer initiatives that focus on the human scholar, the FAIR Principles put specific emphasis on enhancing the ability of machines to automatically find and use the data, in addition to supporting its reuse by individuals. This Comment is the first formal publication of the FAIR Principles, and includes the rationale behind them, and some exemplar implementations in the community.
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            Genomics is failing on diversity.

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              The Missing Diversity in Human Genetic Studies

              The majority of studies of genetic association with disease have been performed in Europeans. This European bias has important implications for risk prediction of diseases across global populations. In this commentary, we justify the need to study more diverse populations using both empirical examples and theoretical reasoning.
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                Author and article information

                Contributors
                Journal
                Front Pediatr
                Front Pediatr
                Front. Pediatr.
                Frontiers in Pediatrics
                Frontiers Media S.A.
                2296-2360
                14 December 2020
                2020
                : 8
                Affiliations
                1IRDiRC Scientific Secretariat, National Institute for Health and Medical Research , Paris, France
                2National Centre for Indigenous Genomics, Australian National University , Canberra, ACT, Australia
                3Department of Pharmacology, Dalhousie University , Halifax, NS, Canada
                4Precision Medicine, Platform on Shaping the Future of Health and Healthcare, World Economic Forum , San Francisco, CA, United States
                5Institute of Genetics, Canadian Institutes of Health Research, Government of Canada , Ottawa, ON, Canada
                6Human Metabolomics, North-West University , Potchefstroom, South Africa
                7Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo , Santiago, Chile
                8Institute of Health Management, Southern Medical University , Guangdong, China
                9KwaZulu-Natal Research Innovation and Sequencing Platform, University of KwaZulu-Natal , Durban, South Africa
                10Rare Diseases South Africa , Johannesburg, South Africa
                11Australian Institute of Tropical Health and Medicine, James Cook University , Smithfield, QLD, Australia
                12Department of Medical Genetics, University of British Columbia , Victoria, BC, Canada
                13Faculty of Maori and Indigenous Studies, University of Waikato , Hamilton, New Zealand
                14Oregon Clinical and Translational Research Institute, Oregon Health and Science University , Portland, OR, United States
                15Department of Mathematics and Statistics, University of Otago , Dunedin, New Zealand
                16National Rare Disease Office, Mater Misericordiae University Hospital , Dublin, Ireland
                17Academic Centre on Rare Diseases, University College Dublin , Dublin, Ireland
                18Western Australian Register of Developmental Anomalies , Perth, WA, Australia
                19Quantitative Genomics Laboratories (qgenomics), Esplugues de Llobregat , Barcelona, Spain
                20Genetic Services of Western Australia, Department of Health, Government of Western Australia , Perth, WA, Australia
                21Faculty of Health and Medicine, Division of Pediatrics, University of Western Australia , Perth, WA, Australia
                22Telethon Kids Institute, University of Western Australia , Perth, WA, Australia
                23Faculty of Medicine, University of Notre Dame , Fremantle, WA, Australia
                24Faculty of Science and Engineering, Spatial Sciences, Curtin University , Perth, WA, Australia
                25Faculty of Medicine, Notre Dame University , Perth, WA, Australia
                26School of Population and Global Health, University of Melbourne , Melbourne, VIC, Australia
                Author notes

                Edited by: Martin Chalumeau, Université Paris Descartes, France

                Reviewed by: Sabine Plancoulaine, INSERM U1153 Centre de Recherche Épidémiologie et Statistique, France; Paul Bastard, INSERM U1163 Institut Imagine, France

                *Correspondence: Gareth Baynam gareth.baynam@ 123456health.wa.gov.au

                This article was submitted to General Pediatrics and Pediatric Emergency Care, a section of the journal Frontiers in Pediatrics

                Article
                10.3389/fped.2020.579924
                7767925
                33381478
                Copyright © 2020 D'Angelo, Hermes, McMaster, Prichep, Richer, van der Westhuizen, Repetto, Mengchun, Malherbe, Reichardt, Arbour, Hudson, du Plessis, Haendel, Wilcox, Lynch, Rind, Easteal, Estivill, Thomas and Baynam.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                Page count
                Figures: 0, Tables: 1, Equations: 0, References: 103, Pages: 11, Words: 9628
                Funding
                Funded by: European Commission 10.13039/501100000780
                Categories
                Pediatrics
                Review

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