Skip to main content
View expanded cover

Rare Diseases Epidemiology: Update and Overview pp 511–520Cite as

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity

Part of the Advances in Experimental Medicine and Biology book series (AEMB,volume 1031)

Abstract

Advances in our understanding of genetic and rare diseases are changing the face of healthcare. Crucially, the global community must implement these advances equitably to reduce health disparities, including between Indigenous and non-Indigenous peoples. We take an Australian perspective to illustrate some key areas that are fundamental to the equitable translation of new knowledge for the improved diagnosis of genetic and rare diseases for Indigenous people. Specifically, we focus on inequalities in access to clinical genetics services and the lack of genetic and phenomic reference data to inform diagnoses. We provide examples of ways in which these inequities are being addressed through Australian partnerships to support a harmonious and inclusive approach to ensure that benefits from traditional wisdom, community knowledge and shared experiences are interwoven to support and inform implementation of new knowledge from genomics and precision public health. This will serve to deliver benefits to all of our diverse citizens, including Indigenous populations.

Keywords

  • Indigenous
  • Aboriginal
  • Genomics
  • Genetics
  • Phenotyping
  • Phenomics
  • Equity
  • Innovation
  • Facial

This is a preview of subscription content, access via your institution.

Notes

  1. 1.

    Historic blood samples collected from Indigenous Australians could connect members of the stolen generations to their families and improve healthcare for chronic diseases, but not without confronting a troubled legacy of scientific exploitation and racial classification. About 7000 samples were collected from 43 remote communities in northern Australia in the 1960s and 1970s as part of a range of studies. The samples were used by researchers until ethical concerns about the use of Indigenous DNA prompted a moratorium in the 1990s, and have spent the intervening years preserved in Canberra. They are now collected at the Australian National University’s National Centre for Indigenous Genomics, which has begun the process of tracking down the donors and their next of kin and getting consent to make sequenced genomes available to researchers. The process has been helped by the possibility the DNA bank could help members of the stolen generation find their lost families “Because of that it’s such a cultural, sensitive, and difficult issue for some of the Indigenous community … so we were driven to create the very best example of Indigenous participation that exists.” That includes a world-first “dynamic consent” model which allows the DNA donor to provide or revoke consent for specific projects even after they have consented to their sequenced genome being held on file, Emma Kowal said. Every application to access the data would be decided upon by the Indigenous governance board, which is chaired by the Indigenous human rights commissioner Mick Gooda. Also on the board is Prof Mick Dodson, who was opposed to the genome projects of the 1990s on the grounds that DNA was collective cultural property. https://www.theguardian.com/australia-news/2016/aug/18/indigenous-dna-at-centre-of-ethical-furore-could-help-reconnect-stolen-generations

  2. 2.

    The Aboriginal and Torres Strait Islander population has a relatively young age structure, in 2011 the median age of the ATSI population was 21.6 years. http://www.abs.gov.au/ausstats/abs@.nsf/Products/C19A0C6E4794A3FACA257CC900143A3D?opendocument

  3. 3.

    Human Genetics Society of Australasia (HGSA), 39th Annual Scientific Meeting, August 2105, Perth Australia. Rare Diseases and Indigenous Genetics https://www.hgsa.org.au/documents/item/4559 Accessed August 2016.

  4. 4.

    http://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN&diseaseGroup=minds Accessed July 2016.

  5. 5.

    About NCIG: an introduction for donor communities. http://ncig.anu.edu.au/ncig-collection/current-projects/community-engagement/about-ncig-introduction-donor-communities Accessed July 2016.

  6. 6.

    Patient Archive: Phenotype is fundamentally important to identifying the cause/origin of both rare and complex disorders, and substantially reducing the search-space for genomic variation. http://www.garvan.org.au/research/kinghorn-centre-for-clinical-genomics/clinical-genomics/about-kccg/teams/phenomics-team#Patient_Archive

  7. 7.

    WA Aboriginal Health and Wellbeing Framework 2015–2030 to articulate the commitment and a set of guiding principles, that also articulates the multi-dimensional aspects of health and well-being from an Aboriginal perspective and which recognises that Aboriginal people bring a diverse range of skills, including the ability to break down the cultural barriers between our cultures that can prevent best health care for their communities. http://ww2.health.wa.gov.au/Improving-WA-Health/About-Aboriginal-Health/WA-Aboriginal-Health-and-Wellbeing-Framework-2015-2030 Accessed August 2016.

References

  1. Australian Bureau of Statistics. 3238.0.55.001 (2011) Estimates of Aboriginal and Torres Strait Islander Australians. Australian Bureau of Statistics, Canberra

    Google Scholar 

  2. Australian Bureau of Statistics. 3101.0 (2015) Australian demographic statistics. Australian Bureau of Statistics, Canberra

    Google Scholar 

  3. Ayme S, Rath A, Bellet B (2010) WHO International Classification of Diseases (ICD) revision process: incorporating rare diseases into the classification scheme: state of art. Orphanet J Rare Dis 5(Suppl 1):P1

    CrossRef  PubMed Central  Google Scholar 

  4. Aymé S, Rodwell C (2011) Report on the state of the art of rare disease activities in Europe of the European Union Committee of Experts on Rare Diseases – Part I: overview of rare disease activities in Europe and key developments in 2010

    Google Scholar 

  5. Baynam G (2012) The need for genetic studies of Indigenous Australians. Med J Aust 196(5):313

    CrossRef  PubMed  Google Scholar 

  6. Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R et al (2015) A Germline MTOR mutation in aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. Am J Med Genet 9999A(Part A):1–9

    Google Scholar 

  7. Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C et al (2016) The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a statewide clinical service. Orphanet J Rare Dis 11(77):1–7

    Google Scholar 

  8. Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H et al (2014) Phenotyping: Targeting genotype’s rich cousin for diagnosis. J Paediatr Child Health 51(4):381–386

    PubMed  Google Scholar 

  9. Baynam G, Walters M, Dawkins H, Bellgard M, Halbert A, Claes P (2013) Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis. Twin Res Hum Genet 16(04):840–844

    CrossRef  PubMed  Google Scholar 

  10. Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Gillett D, Goldblatt J (2013) The facial evolution: looking backward and moving forward. Hum Mutat 34(1):14–22

    CrossRef  PubMed  Google Scholar 

  11. Bustamante C, De La Vega F, Burchard E (2011) Genomics for the world. Nature 475:163–165

    CAS  CrossRef  PubMed  PubMed Central  Google Scholar 

  12. Collins F, Varmus H (2015) A new initiative on precision medicine. N Engl J Med 372(9):793

    CAS  CrossRef  PubMed  PubMed Central  Google Scholar 

  13. European Commission (2011) Council recommendation on an action in the field of rare diseases

    Google Scholar 

  14. European Commission (2013) National plans or strategies for rare diseases 2013 [cited 2013 18 June]. Available from: http://ec.europa.eu/health/rare_diseases/national_plans/detailed/index_en.htm

  15. European Organisation for Rare Diseases (2011) Joint declaration on rare disease as an international public health priority. EURORDIS

    Google Scholar 

  16. Ferry Q, Steinberg J, Webber C, FitzPatrick DR, Ponting CP, Zisserman A et al (2014) Diagnostically relevant facial gestalt information from ordinary photos. eLife 3:e02020

    CrossRef  PubMed  PubMed Central  Google Scholar 

  17. Gravel S, Henn B, Gutenkunst R, Indap A, Marth G, Clark A et al (2011) Demographic history and rare allele sharing among human populations. PNAS 108(29):11983–11988

    CAS  CrossRef  PubMed  PubMed Central  Google Scholar 

  18. Khoury M, Iademarco M, Riley W (2016) Precision public health for the era of precision medicine. Am J Prev Med 50(3):398–401

    CrossRef  PubMed  Google Scholar 

  19. Kowal E (2012) Genetic research in indigenous health: significant progress, substantial challenges. Med J Aust 197(1):19–20

    CrossRef  PubMed  Google Scholar 

  20. Kowal E, Easteal S, Gooda M (2016) Indigenous genomics. Australas Sci 37(6):18–20

    Google Scholar 

  21. Kowal E, Gallacher L, Macciocca I, Sahhar M (2015) Genetic counseling for indigenous Australians: an exploratory study from the perspective of genetic health professionals. J Genet Couns 24(4):597–607

    CrossRef  PubMed  Google Scholar 

  22. Kowal E, Rouhani L, Anderson I (2011) Genetic research in aboriginal and Torres Strait islander communities: beginning the conversation. The Lowitja Institute, Melbourne

    Google Scholar 

  23. Manolio T, Collins F, Cox N, David B, Goldstein D, Hindorff L, Hunter D et al (2009) Finding the missing heritability of complex diseases. Nature 461(7265):747–753

    CAS  CrossRef  PubMed  PubMed Central  Google Scholar 

  24. Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC et al (2015) Global implementation of genomic medicine: we are not alone. Sci Transl Med 7(290):1–8

    CrossRef  Google Scholar 

  25. Manrai A, Funke B, Rehm H, Olesen M, Maron B, Szolovits P et al (2016) Genetic misdiagnoses and the potential for health disparities. N Engl J Med 375(7):655–665

    CrossRef  PubMed  PubMed Central  Google Scholar 

  26. Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S et al (2016) Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J Rare Dis 11(1):30

    CrossRef  PubMed  PubMed Central  Google Scholar 

  27. Mroske C, Rasmussen K, Shinde D, Huether R, Powis Z, Lu H-M et al (2015) Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. BMC Med Genet 16:102

    CrossRef  PubMed  PubMed Central  Google Scholar 

  28. Muenke M, Adeyemo A, Kruszka P (2016) An electronic atlas of human malformation syndromes in diverse populations. Genet Med 18:1085–1087

    CrossRef  PubMed  Google Scholar 

  29. National Research Council (US) Committee on A Framework for Developing a New Taxonomy of Disease (2011) Toward precision medicine: building a knowledge network for biomedical research and a new taxonomy of disease. National Academies Press, Washington, DC

    Google Scholar 

  30. NHMRC (2010) The NHMRC road map II: a strategic framework for improving the health of Aboriginal and Torres Strait Islander people through research. In: Committee AaTSIHaRA (ed) , Canberra, National Health and Medical Research Council

    Google Scholar 

  31. Office of Science and Technology (2012) National bioeconomy blueprint. The White House: Office of Science and Technology, Washington, DC

    Google Scholar 

  32. PMI Working Group Report (2015) The Precision Medicine Initiative Cohort Program – Building a Research Foundation for 21st Century Medicine. National Institutes of Health, 2015 September 17, 2015. Report No.

    Google Scholar 

  33. Remuzzi G, Garattini S (2008) Rare diseases: what's next? Lancet 371(9629):1978–1979

    CrossRef  PubMed  Google Scholar 

  34. Schiepatti A, Henter J, Darina E, Aperia A (2008) Why rare diseases are an important medical and social issue. Lancet 371:2039

    CrossRef  Google Scholar 

  35. Smith C, Fullerton S, Dookeran K, Hampel H, Tin A, Maruthur N et al (2016) Using genetic technologies to reduce, rather than widen, health disparities. Health Aff 35(8):1367–1373

    CrossRef  Google Scholar 

  36. Tang D, Anderson D, Francis R, Syn G, Jamieson S, Lassmann T et al (2016) Reference genotype and exome data from an Australian aboriginal population for health-based research. Scientific Data 3:160023

    CAS  CrossRef  PubMed  PubMed Central  Google Scholar 

  37. Thomas D, Bainbridge R, Tsey K (2014) Changing discourses in aboriginal and Torres Strait Islander health research, 1914–2014. Med J Aust 201(1):S1–S4

    CrossRef  Google Scholar 

  38. Topol E (2014) Individualized medicine from prewomb to tomb. Cell 157:241

    CAS  CrossRef  PubMed  PubMed Central  Google Scholar 

  39. Valdez R, Ouyang L, Bolen J (2016) Public health and rare diseases: oxymoron no more. Prev Chronic Dis Public Health Res Pract Pol 13:150491

    Google Scholar 

Download references

Acknowledgements

Authors are supported by an NHMRC Partnership Grant (#1114437) and the Lowitja Institute. GB is supported by the Raine Clinician Research Fellowship. The authors acknowledge and greatly appreciate the support and guidance from our colleagues in the Aboriginal Health Directorate, Department of Health, Government of Western Australia; their ongoing advice and insights are highly valued.

Author information

Authors and Affiliations

  1. Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia

    Gareth Baynam

  2. Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia

    Gareth Baynam

  3. Undiagnosed Diseases Program, Subiaco, WA, Australia

    Gareth Baynam

  4. Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia

    Caron Molster, Alicia Bauskis & Hugh J. S. Dawkins

  5. Alfred Deakin Institute for Citizenship and Globalisation, Deakin University, Melbourne, Australia

    Emma Kowal

  6. National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia

    Emma Kowal

  7. Victorian Clinical Genetics Services, Parkville, VIC, Australia

    Ravi Savarirayan

  8. Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia

    Ravi Savarirayan

  9. Northern Territory Clinical Genetics Services, NT, Darwin, 9000, Australia

    Ravi Savarirayan

  10. Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, 3010, Australia

    Margaret Kelaher

  11. John Curtin School of Medical Research, Australian National University, Canberra, Australia

    Simon Easteal & Libby Massey

  12. National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia

    Simon Easteal & Libby Massey

  13. Wellbeing and Preventable Chronic Disease Division, Menzies School of Health Research, Charles Darwin University, Darwin, NT, 0811, Australia

    Gail Garvey

  14. Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia

    Jack Goldblatt & Nicholas Pachter

  15. School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia

    Jack Goldblatt & Nicholas Pachter

  16. School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia

    Nicholas Pachter

  17. Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia

    Tarun S. Weeramanthri

Authors
  1. Gareth Baynam
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Caron Molster
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Alicia Bauskis
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Emma Kowal
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Ravi Savarirayan
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Margaret Kelaher
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Simon Easteal
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Libby Massey
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Gail Garvey
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Jack Goldblatt
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Nicholas Pachter
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Tarun S. Weeramanthri
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Hugh J. S. Dawkins
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Gareth Baynam .

Editor information

Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Ph.D. Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Dr. Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Prof. Stephen C. Groft

Rights and permissions

Reprints and Permissions

Copyright information

© 2017 Springer International Publishing AG

About this chapter

Verify currency and authenticity via CrossMark

Cite this chapter

Baynam, G. et al. (2017). Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_27

Download citation