6 research outputs found
Advancing diagnosis and research for rare genetic diseases in indigenous peoples
Achieving a diagnosis for Indigenous people living with a rare, often genetic, disease is crucial for equitable healthcare. The International Rare Disease Research Consortium convened a global Task Force to bridge the gap in diagnosing Indigenous rare diseases, and identify solutions to tackle the health inequity faced by Indigenous people.The IRDiRC Indigenous Population Task Force was supported by the Scientific Secretariat of IRDiRC, funded by the European Union through the European Joint Programme on Rare Disease (EJP RD) under the European Unionâs Horizon 2020 Research and Innovation Programme.https://www.nature.com/ng2024-08-08hj2024BiochemistryGeneticsMicrobiology and Plant PathologySDG-03:Good heatlh and well-beingSDG-10:Reduces inequalitie
Beyond platitudes: A qualitative study of Australian Aboriginal people's perspectives on biobanking
Background
Biobanks are vital resources for genetics and genomics, and it is broadly recognised that for maximal benefit it is essential that they include samples and data from diverse ancestral groups. The inclusion of First Nations people, in particular, is important to prevent biobanking research from exacerbating existing health inequities, and to ensure that these communities share in the benefits arising from research.
Aims
To explore the perspectives of Australian Aboriginal people whose tissueâor that of their family membersâhas been stored in the biobank of the National Centre for Indigenous Genomics (NCIG).
Methods
Semiâstructured interviews with 42 Aboriginal people from the Titjikala, Galiwinku, Tiwi Islands, Yarrabah, Fitzroy Crossing, Derby, One Arm Point, and Mulan communities, as well as a formal discussion with AH, an Indigenous Community Engagement Coordinator at the NCIG who had conducted the interviews. The interviews and the structured discussion were double coded using a procedure informed by Charmazâs outline of grounded theory analysis and Morseâs outline of the cognitive basis of qualitative research.
Results
In this article, we report on AHâs interviews with members from the above Aboriginal communities, as well as on her personal views, experiences, views and her interpretations of the interviews she conducted with other community members. We found that participation in the NCIG biobank raised issues around broken trust, grief and loss, but alsoâsomewhat unexpectedlyâwas perceived as a source of empowerment, hope and reconnection.
Conclusions
This research reminds us (again) of the need to engage deeply with communities in order to respond appropriately with respect for their cultural values and norms, and to develop culturally relevant policies and processes that enhance the benefits of biobank participation and minimise potential harms
Barriers and considerations for diagnosing rare diseases in Indigenous populations
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
Equitable expanded carrier screening needs Indigenous clinical and population genomic data
Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other parts of the world. Consequently, inclusion of currently underrepresented Indigenous and other minority population groups in genomic research is essential to enable equitable outcomes in ECS and other areas of genomic medicine. Here, we discuss this issue in relation to the implementation of ECS in Australia, which is currently being evaluated as part of the national Governmentâs Genomics Health Futures Mission. We argue that significant effort is required to build an evidence base and genomic reference data so that ECS can bring significant clinical benefit for many Aboriginal and/or Torres Strait Islander Australians. These efforts are essential steps to achieving the Australian Governmentâs objectives and its commitment âto leveraging the benefits of genomics in the health system for all Australians.â They require culturally safe, community-led research and community involvement embedded within national health and medical genomics programs to ensure that new knowledge is integrated into medicine and health services in ways that address the specific and articulated cultural and health needs of Indigenous people. Until this occurs, people who do not have European ancestry are at risk of being, in relative terms, further disadvantaged