Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

Journal
Frontiers in Pediatrics
ISSN
2296-2360
Date Issued
2020
Author(s)
Carla S. D'Angelo
Azure Hermes
Christopher R. McMaster
Elissa Prichep
Étienne Richer
Francois H. van der Westhuizen
Gong Mengchun
Helen Malherbe
Juergen K. V. Reichardt
Laura Arbour
Maui Hudson
Kelly du Plessis
Melissa Haendel
Phillip Wilcox
Sally Ann Lynch
Shamir Rind
Simon Easteal
Xavier Estivill
Yarlalu Thomas
Gareth Baynam
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85098245249
WoS ID
WOS:000602571300001
DOI
URL
URL Institutional Repository
Abstract
<jats:p>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.</jats:p>
Cite this document
D’Angelo, C. S., Hermes, A., McMaster, C. R., Prichep, E., Richer, É., Van Der Westhuizen, F. H., Repetto, G. M., Mengchun, G., Malherbe, H., Reichardt, J. K. V., Arbour, L., Hudson, M., Du Plessis, K., Haendel, M., Wilcox, P., Lynch, S. A., Rind, S., Easteal, S., Estivill, X., … Baynam, G. (2020). Barriers and considerations for diagnosing rare diseases in indigenous populations. Frontiers in Pediatrics, 8, 579924. https://doi.org/10.3389/fped.2020.579924
Project(s)
Subjects
indigenous populations

; 

genomics

; 

diagnosis

; 

rare diseases

; 

equity

; 

awareness

; 

biobank

; 

capacity building

; 

data processing

; 

empowerment

; 

genetic service

; 

genomics

; 

health care access

; 

human

; 

indigenous people

; 

medical genetics

; 

rare disease

; 

reference database

; 

review