TY - JOUR
T1 - Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations
AU - D'Angelo, Carla S.
AU - Hermes, Azure
AU - McMaster, Christopher R.
AU - Prichep, Elissa
AU - Richer, Etienne
AU - van der Westhuizen, Francois H.
AU - Repetto, Gabriela M.
AU - Mengchun, Gong
AU - Malherbe, Helen
AU - Reichardt, Juergen K.V.
AU - Arbour, Laura
AU - Hudson, Maui
AU - du Plessis, Kelly
AU - Haendel, Melissa
AU - Wilcox, Phillip
AU - Lynch, Sally Ann
AU - Rind, Shamir
AU - Easteal, Simon
AU - Estivill, Xavier
AU - Thomas, Yarlalu
AU - Baynam, Gareth
N1 - Funding Information:
This work was supported by the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 825575 (EJP RD). GR was supported by Fondecyt-ANID Chile Grant #1171014.
Funding Information:
Other efforts to include minority populations in human genetic studies include the Human Heredity and Health in Africa Initiative (H3Africa; https://h3africa.org), jointly funded by the NIH in the US and the Wellcome Trust in the UK to advance African-led genome research (52), the UK MRC-funded International Center for Genomic Medicine in Neuromuscular Diseases (ICGNMD) (53), and the NIH All of Us research program (https://allofus.nih.gov), a precision medicine initiative which plans to collect DNA and health data from one million people including American Indians and Alaska Natives (54). China has also launched the precision medicine initiative (55), supporting the cohort studies covering healthy population and special disease populations in different geographical areas, where the ratio of Han ethnicity and minority peoples varies among each other. One of the cohort studies with the funding from the precision medicine initiative, covering the registry for over 100 rare diseases, has been performed since 2016 and it recruited patients with a breadth of ethnicities in China (56).
Funding Information:
This article was written on behalf of the IRDiRC Indigenous Population Task Force. WA Health acknowledges the Aboriginal people of the many traditional lands and language groups of Western Australia. It acknowledges the wisdom of Aboriginal Elders both past and present and pays respect to Aboriginal communities of today. Dalhousie University sits on the ancestral and unceded territory of the Mi'kmaq. We are all Treaty people. The opinions expressed here are those of the authors and may not be understood as being made on behalf of the institutions to which they are affiliated. Funding. This work was supported by the European Union's Horizon 2020 research and innovation programme under grant agreement No. 825575 (EJP RD). GR was supported by Fondecyt-ANID Chile Grant #1171014.
Publisher 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.
PY - 2020/12/14
Y1 - 2020/12/14
N2 - 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.
AB - 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.
KW - Indigenous populations
KW - diagnosis
KW - equity
KW - genomics
KW - rare diseases
UR - http://www.scopus.com/inward/record.url?scp=85098245249&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85098245249&partnerID=8YFLogxK
U2 - 10.3389/fped.2020.579924
DO - 10.3389/fped.2020.579924
M3 - Review article
AN - SCOPUS:85098245249
VL - 8
JO - Frontiers in Pediatrics
JF - Frontiers in Pediatrics
SN - 2296-2360
M1 - 579924
ER -