Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

D’Angelo, Carla Sustek; Hermes, Azure; McMaster, Christopher R.; Prichep, Elissa; Richer, Étienne; Westhuizen, Francois H. van der; Repetto, Gabriela M.; Gong, Mengchun; Malherbe, Helen; Reichardt, Juergen K. V.; Arbour, Laura; Hudson, Māui; Plessis, Kelly du; Haendel, Melissa; Wilcox, Phillip; Lynch, Sally Ann; Rind, Shamir; Easteal, Simon; Estivill, Xavier; Thomas, Yarlalu; Baynam, Gareth

doi:10.3389/fped.2020.579924

Cited by 32 publications

(37 citation statements)

References 62 publications

(72 reference statements)

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“…A 2016 update showed that White participants continued to make up 81% of all samples in GWAS studies while comprising only 16% of the global population; in comparison, Black and Hispanic subjects comprised only 2% and < 0.5%, respectively (Martin et al 2019). Indigenous American and Pacific Islander populations experience particular challenges in accessing testing; we found that Native American and Native Hawaiian groups are barely represented at all in the literature, comprising a mere 0.01% of all subjects reported (D'Angelo et al 2020).…”

Section: Discussionmentioning

confidence: 64%

Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis

Rouse¹,

Florentine

Taketa

et al. 2021

Hum Genet

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Racial/ethnic disparities in the diagnostic efficacy of genetic testing for hearing loss have been described. These disparities may relate to differences in variant classification between different racial/ethnic groups, which may, in turn, derive from disparate representation of these groups in the published literature. We sought to quantify racial/ethnic disparities in the published literature on the human genetics of hearing loss. We conducted a search of PubMed for articles describing single-gene, multiple-gene, or whole-exome sequencing for individuals with sensorineural hearing loss. Data on the included subjects, including race/ethnicity and/or region of origin, a number of subjects tested, and method of testing, were extracted. 1355 populations representing 311,092 subjects from 1165 studies were included. Overall, subjects of European and Asian ancestry were equivalently represented, but those of Latino American, African, and indigenous North American ancestry were significantly underrepresented; over 96% of all subjects in the published literature were European or Asian. Within populations, the majority of subjects derived from a small subset of countries. The observed disparity was greater for multiple-gene and whole-exome sequencing than for single-gene sequencing. These findings illustrate the large disparity in the published literature on the genetics of hearing loss, and demonstrate the need for increased representation of Latino American, African, and indigenous North American populations.

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Section: Discussionmentioning

confidence: 64%

Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis

Rouse¹,

Florentine

Taketa

et al. 2021

Hum Genet

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“…The initiative will expand region wide awareness to the issues, opportunities and challenges of rare diseases by encouraging awareness and advocacy. There is the need to provide greater access and options for diagnosis and treatment to all patients, including indigenous people 30 …”

Section: Meeting Global Needs and Developing Nationsmentioning

confidence: 99%

Progress, challenges and global approaches to rare diseases

2021

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Henter, serving as chair of the organising committee, hosted the first International Conference on Rare Diseases and Orphan Drugs (ICORD)-more recently changed to International Collaboration on Rare Diseases and Orphan Drugs. 1 The major issues discussed at this conference included genetic testing and the diagnosis of rare diseases, collaborative research networks, regulatory agencies' activities in Europe and the USA, opportunities for collaborative research

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“…18 Indigenous American and Paci c Islander populations experience particular challenges in accessing testing; we found that Native American and Native Hawaiian populations are barely represented at all in the literature, comprising a mere 0.01% of all subjects reported. 19 This trend in racial/ethnic disparities has been well described in genetic testing for other diseases. Broadly, patients of African and Asian ancestry are more likely than those of European ancestry to receive ambiguous genetic test results after exome sequencing, or be told that they have VUSs.…”

Section: Discussionmentioning

confidence: 90%

Racial and Ethnic Disparities in Genetic Testing for Hearing Loss: a Systematic Review and Synthesis

Rouse

Florentine

Taketa

et al. 2021

Preprint

View full text Add to dashboard Cite

Racial/ethnic disparities in the diagnostic efficacy of genetic testing for hearing loss has been described. These disparities may relate to differences in variant classification between different racial/ethnic groups, which may in turn derive from disparate representation of these groups in the published literature. We sought to quantify racial/ethnic disparities in the published literature on the human genetics of hearing loss. We conducted a search of PubMed for articles describing single-gene, multiple-gene, or whole-exome sequencing for individuals with sensorineural hearing loss. Data on the populations studied, including race/ethnicity and/or region of origin, subjects tested, and method of testing, were extracted. 1,355 unique populations representing 311,092 subjects from 1,165 studies were included. Overall, White and Asian populations and subjects were equivalently represented, but Latinx, Black, and Native American/Hawaiian groups were significantly underrepresented; over 96% of all subjects in the published literature were White or Asian. Within racial/ethnic groups, the majority of subjects derived from a small subset of countries. The observed racial/ethnic disparity was greater for multiple-gene and whole-exome sequencing than for single-gene sequencing. These findings illustrate the large disparity in published literature on the genetics of hearing loss, and demonstrate the need for increased representation of Latinx, Black, and Native American populations.

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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

Cited by 32 publications

References 62 publications

Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis

Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis

Progress, challenges and global approaches to rare diseases

Racial and Ethnic Disparities in Genetic Testing for Hearing Loss: a Systematic Review and Synthesis

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