Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.
Indigenous populations
diagnosis
equity
genomics
rare diseases
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2020
2020
Historique:
received:
03
07
2020
accepted:
02
11
2020
entrez:
31
12
2020
pubmed:
1
1
2021
medline:
1
1
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33381478
doi: 10.3389/fped.2020.579924
pmc: PMC7767925
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
579924Informations de copyright
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.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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