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.
Highlights
The number of people worldwide living with a rare disease is estimated between 263 and 446 million [1], and there are an estimated 370–500 million Indigenous peoples in the world, spread across 90 countries and speaking the major share of the world’s almost 7,000 languages [2]
We focus our analysis on the limited access to diagnostic services and clinical expertise, underrepresentation in genomic databases and genomics research in general, concerns with the handling of biospecimens, data use and data sharing, and the importance of building capacity within communities
While there is a relative dearth of initiatives to improve Indigenous access to genetic and genomic care, from a nondisease-specific basis and an Australian perspective, over the last decade, a number of state-based, multi-state, and more recently national approaches in Australia have begun to address inequitable access to genetic diagnostics and genetic health care across the breadth of rare diseases
Summary
The number of people worldwide living with a rare disease is estimated between 263 and 446 million [1], and there are an estimated 370–500 million Indigenous peoples in the world, spread across 90 countries and speaking the major share of the world’s almost 7,000 languages [2]. While there is a relative dearth of initiatives to improve Indigenous access to genetic and genomic care, from a nondisease-specific basis and an Australian perspective, over the last decade, a number of state-based, multi-state, and more recently national approaches in Australia have begun to address inequitable access to genetic diagnostics and genetic health care across the breadth of rare diseases These both complement and learn from the extensive work of the MJD Foundation in Australia’s Northern Territory. Ensuring that non-Indigenous researchers have adequate cultural competency to engage with Indigenous communities in a research project often requires training before its onset Funding bodies, such as the Australia’s National Health and Medical Research Council (NHMRC) and Human Research Ethics Committees (HRECs), require researchers to demonstrate capacity to effectively conduct research with Aboriginal and Torres Strait Islander peoples [70]. Capacity building in genomic science for Indigenous communities is being supported through programs and translational activities associated with Silent Genomes and the Aotearoa Variome [50]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
