Barriers and considerations for diagnosing rare diseases in Indigenous populations

D’Angelo, Carla S., Hermes, Azure, McMaster, Christopher M., Prichep, Elissa, Richer, Étienne, van der Westhuizen, Francois H., Repetto, Gabriela M., Mengchun, Gong, Malherbe, Helen, Reichardt, Juergen K.V., Arbour, Laura, Hudson, Maui, du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Thomas, Yarlalu, and Baynam, Gareth (2020) Barriers and considerations for diagnosing rare diseases in Indigenous populations. Frontiers in Pediatrics, 8. 579924.

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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.

Item ID: 67080
Item Type: Article (Research - C1)
ISSN: 2296-2360
Keywords: Indigenous populations, genomics, diagnosis, rare diseases, equity
Copyright Information: © 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.
Funders: European Union (EU), National Fund for Scientific and Technological Development - Chile (FONDECYT), National Research and Development Agency - Chile (ANID)
Projects and Grants: EU Horizon 2020 research and innovation programme grant agreement No. 825575, Fondecyt-ANID Chile Grant #1171014
Date Deposited: 09 Mar 2021 00:50
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3299 Other biomedical and clinical sciences > 329999 Other biomedical and clinical sciences not elsewhere classified @ 100%
SEO Codes: 28 EXPANDING KNOWLEDGE > 2801 Expanding knowledge > 280103 Expanding knowledge in the biomedical and clinical sciences @ 100%
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