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Reducing health inequalities by involving indigenous people in genomics research

Personalised medicine offers a new way to improve the prevention, diagnosis and treatment of diseases. If not implemented with equity, it could increase health inequality. In order to improve the quality of healthcare and personalised medicine for populations of indigenous peoples worldwide, there is an urgent need for improved ways of involving people that are culturally competent and safe1,2.

Health inequality for indigenous Australians

The UN states that indigenous people have ‘social, cultural, economic and political characteristics that are distinct from those of the dominant societies in which they live’ and that ‘special measures are required to protect their rights’3. However, the UN has raised human rights concerns about Australian Aboriginal and Torres Strait Islander peoples (hereafter ‘Aboriginal’ peoples) access to health4. The World Health Organisation (WHO) has stated that Aboriginal peoples had a lower than average life expectancy5. A 10 year gap in life expectancy for Aboriginal peoples has remained largely unchanged between 2001 and 2015, despite attempts to improve health outcomes6. The target to close the gap in life expectancy by 2031 ‘is not on track’7. Personalised medicine has the potential to help close or widen that gap, depending on implementation for Aboriginal peoples.

What is personalised medicine?

Personalised medicine is the specialised and personal diagnosis and treatment of people which requires a knowledge of an individual’s DNA (their genome) in order to compare it to what we already know about how variations in people’s genomes can contribute to diseases. There are significant differences in the type, distribution and frequency of variations in the genomes of human populations across the world8. For personalised medicine to be effective, variations in the genome should be interpreted in the context of ‘reference genomes’ from appropriate ancestry groups9. These reference genomes are developed by combining the genomes of different individuals10. The more genetically similar people are to the reference genome, the more helpful it will be.

Why is there potential for further inequality in personalised medicine?

There is a paucity of genomic data about Aboriginal ancestry groups and there are currently no reference genomes from these populations10. This lack of genomic data for specific ancestry groups may increase existing health inequalities in Aboriginal communities, as certain populations of people will not be able to use personalised medicine as effectively as others11.

How can inequality be reduced?

In order to improve the quality of healthcare and personalised medicine for Aboriginal peoples in Australia, it is necessary to improve the research done with these communities. Building trust and working in partnership at all stages of research can minimise the potential risks of group harm and cultural harm associated with genomic research12. However, the complexity of planning how to work with Aboriginal communities to co-design and govern data collection and use it in a way which is inclusive and culturally appropriate is perceived as a barrier by some researchers. The ‘unacceptably high level of disadvantage’ and low-quality of healthcare has prompted the UN to recommend that Australia ‘reset the relationship with Aboriginal people based on genuine consultation, engagement and partnership’4. There is an urgent need for improved ways of involving people that are culturally appropriate and genuinely share power1,4,13–16.

Aboriginal Personalised Medicine Project

The ‘Aboriginal Personalised Medicine Project’ has involved local Aboriginal people in co-designing a proposed research project, including how the community will be involved as partners throughout the project. The project aims to sequence DNA from participants in order to create a clinically useful reference genome. This reference genome will contribute to improved health outcomes by improving the quality of personalised medicine for Aboriginal people from communities in New South Wales. For example, it has the potential to predict cardio-vascular disease and enable more targeted interventions for certain cancers and rare genetic conditions.

There is an urgent need for improved ways of involving people that are culturally appropriate and genuinely share power.

I have been working with the Poche Centre for Indigenous Health at the University of Sydney, helping advise on how this project will involve local community members in the design, data collection and management of the project, aligning with international best-practice with community-controlled research. A recent scoping review of international genomic research identified community based participatory action research (PAR) as the method with the most impacts17. The project will use the paradigm of PAR, which attempts to reduce health inequalities by supporting people to be involved in protocol design, ethical review, data collection, reflection and ultimately actions to improve their own health 18. Here is a summary of how people will be involved:

Co-design – Aboriginal community members will be involved in co-designing every stage of the project, including how people are involved. This will be done using a combination of face-to-face events and online tools.

Data collection – this project will train members of the local Aboriginal community in New South Wales to collect samples for DNA sequencing to generate a reference genome database.

Management – Aboriginal community members will be invited to join the Advisory Committee and will work with other members of the committee to provide guidance to the research team, including on culturally safe research methods, community involvement and engagement, data access and reporting the results of the project to participants and the public.

Evaluation – Aboriginal community members will help evaluate the project, including how people were involved. This will help appraise effective ways of working an identify learning points and best practice.

If the Australian Government is ‘committed to working in genuine partnership’ with Aboriginal peoples, then this must be demonstrated by adequate funding for partnership working, including supporting communities to evaluate involvement in order to create an evidence base for best practice.

Identifying future risks and opportunities

Personalised medicine for all: While the Australian ‘National Health Genomics Policy Framework’ states that a strategic priority is to  ‘promote culturally safe and appropriate data collection and sharing’ for Aboriginal peoples, it also states that the value of genomic research ‘needs to be compared to the range of alternative options in terms of its ability to deliver health benefits, its capacity for harm and the costs of testing’19. While the existing inequality in access to quality primary health care and other basic needs must be reduced20, it is essential that the benefits of genomic medicine are delivered equitably to Aboriginal communities alongside other healthcare interventions to avoid amplifying any further health inequalities.

The social determinants of involvement: The WHO highlighted the importance of creating the conditions that enable people to take control of their lives21. The USA’s ‘All of Us’ ‘Precision Medicine Initiative’ showed that ‘precision engagement’ is required in genomics research22. If the Australian Government is ‘committed to working in genuine partnership’ with Aboriginal peoples, then this must be demonstrated by adequate funding for partnership working, including supporting communities to evaluate involvement in order to create an evidence base for best practice. If lessons from the Belmont Report are to be heeded23, there is a need for vigilance from the public, policy makers and researchers in ensuring the concept of ‘involvement’ is not reduced only to a method of improving recruitment and participation in research which does not reflect the health priorities of those participating24.

Everyone should be involved in shaping the future of genomic research, and everyone should have access to the benefits of this new knowledge.

References

  1. Nowak KJ, Bauskis A, Dawkins HJ, Baynam G. Incidental inequity. Eur J Hum Genet. 2018;26(5):616-617. doi:10.1038/s41431-018-0101-y.
  2. Working with marginalized groups demands time and respect — and researchers must give both. Nat 2019 5687752. April 2019.
  3. United Nations For Indigenous Peoples. Indigenous Peoples at the UN. https://www.un.org/development/desa/indigenouspeoples/about-us.html. Published 2018. Accessed April 16, 2019.
  4. UN Committee on the Elimination of Racial Discrimination. International Convention on the Elimination of All Forms of Racial Discrimination.; 2010. https://undocs.org/en/CERD/C/AUS/CO/15-17. Accessed April 16, 2019.
  5. WHO. Australia’s disturbing health disparities set Aboriginals apart. WHO. 2011. https://www.who.int/bulletin/volumes/86/4/08-020408/en/. Accessed April 16, 2019.
  6. Australian Institute of Health and Welfare 2017. Trends in Indigenous Mortality and Life Expectancy 2001 – 2015.; 2017. https://www.aihw.gov.au/reports/indigenous-australians/trends-in-indigenous-mortality-and-life-expectancy/contents/table-of-contents. Accessed April 19, 2019.
  7. Australian Government. Closing the Gap.; 2019. https://ctgreport.pmc.gov.au/. Accessed April 16, 2019.
  8. Lek M, Karczewski KJ, Minikel E V., et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285-291. doi:10.1038/nature19057.
  9. Robertson SP, Hindmarsh JH, Berry S, et al. Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand. N Z Med J. 2018;131(1480):81-89. https://www.nzma.org.nz/journal/read-the-journal/all-issues/2010-2019/2018/vol-131-no-1480-17-august-2018/7668. Accessed March 25, 2019.
  10. Bilkey GA, Burns BL, Coles EP, et al. Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges. Front Public Heal. 2019;7:40. doi:10.3389/fpubh.2019.00040.
  11. Petrovski S, Goldstein DB. Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Genome Biol. 2016;17(1):157. doi:10.1186/s13059-016-1016-y.
  12. Kowal E, Anderson I. Genetic Research in Aboriginal and Torres Strait Islander Communities : Continuing the Conversation.; 2012. http://dro.deakin.edu.au/view/DU:30064989.
  13. Griffiths K, Coleman C, Lee V, Madden R. How colonisation determines social justice and Indigenous health—a review of the literature. J Popul Res. 2016;33(1):9-30. doi:10.1007/s12546-016-9164-1.
  14. Sherwood J. Colonisation – It’s bad for your health: The context of Aboriginal health. Contemp Nurse. 2013;46(1):28-40. doi:10.5172/conu.2013.46.1.28.
  15. Paradies Y. Colonisation, racism and indigenous health. J Popul Res. 2016;33(1):83-96. doi:10.1007/s12546-016-9159-y.
  16. Gwynne K, Jeffries T, Lincoln M. Improving the efficacy of healthcare services for Aboriginal Australians. Australian Health Review. http://www.publish.csiro.au/?paper=AH17142. Published 2018. Accessed April 19, 2019.
  17. Nunn JS, Tiller J, Fransquet PD, Lacaze P. Public Involvement in Global Genomics Research: A Scoping Review. Front Public Heal. 2019;7:79. doi:10.3389/FPUBH.2019.00079.
  18. Baum F, Macdougall C, Smith D. Participatory action research. J Epidemiol Community Heal. 2006;60(60):854-857. doi:10.1136/jech.2004.028662.
  19. Australian Health Ministers’ Advisory Council. National Health Genomics Policy Framework 2018-2021.; 2018. https://trove.nla.gov.au/work/229838587?q&versionId=252743158. Accessed April 16, 2019.
  20. Australian Human Rights Commission. Social Determinants and the Health of Indigenous Peoples in Australia – a Human Rights Based Approach.; 2007. https://www.humanrights.gov.au/news/speeches/social-determinants-and-health-indigenous-peoples-australia-human-rights-based#endnote3. Accessed April 16, 2019.
  21. WHO. Closing the Gap in a Generation.; 2008. https://www.who.int/social_determinants/final_report/csdh_finalreport_2008.pdf. Accessed April 16, 2019.
  22. Wagner JK, Peltz-Rauchman C, Rahm AK, Johnson CC. Precision engagement: the PMI/’s success will depend on more than genomes and big data. Genet Med. 2016;(October):1-5. doi:10.1038/gim.2016.165.
  23. National Institutes of Health. The Belmont Report. Belmont Rep Ethical Princ Guidel Prot Hum Subj Res. 1979;(February 1976):4-6. doi:10.1002/9780471462422.eoct093.
  24. Working with marginalized groups demands time and respect — and researchers must give both. Nature. 2019;568(7752):275-275. doi:10.1038/d41586-019-01163-0.

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The Consumers Health Forum of Australia (CHF) is the national peak body representing the interests of Australian healthcare consumers. CHF works to achieve safe, quality, timely healthcare for all Australians, supported by accessible health information and systems.