Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

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.

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

“…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).…”

Progress, challenges and global approaches to rare diseases

“…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 …”

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

“…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.…”