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World of Genomics: Australia

Known for wild landscapes and distinctive wildlife, Australia is one of the largest countries in the world. Australia has a unique place in the genomics space, having a rich history of Indigenous and immigrant populations and being one of the first places in the world able to sequence the human genome at a base cost below USD$1000. Australia is on a mission to deliver world leading genomics equitably.

The population of Australia

Australia is a sovereign country comprising the mainland of the Australian continent, the island of Tasmania and numerous smaller islands.

Indigenous Australians have inhabited the continent for approximately 65,000 years. The artistic, musical and spiritual practices they established are among the longest surviving in human history. A comprehensive genomic study of Indigenous Australians confirmed that modern Aboriginal Australians are the descendants of the first people to inhabit Australia, a claim that had previously been subject to debate.

In the early 17th century, Dutch explorers arrived in Australia, starting a European-wide exploration and colonisation of the country. In 1770, Australia’s eastern half was claimed by Great Britain and initially settled through penal transportation. Australia achieved independent sovereign nation status after World War I and remains a member of the British Commonwealth.

Australia has a large mountain range that runs down its east coast. Most of the centre of the country is covered by desert. Its population is concentrated in mainly urban and coastal areas.

Australia’s demography has been shaped by centuries of immigration, with immigrants accounting for 30% of the country’s population. It is the 55th most populous country in the world and the most populous Oceanian country.

Figure 1 | Map of Australia (Source: Encyclopaedia Britannica)

Geographic and demographic information

Summary statistics

  • Land area: 7.692 million km2
  • Gross domestic product (GDP):
    • Total: $1.331 trillion USD
    • Per capita: $51,680 USD

Population statistics

  • Population size: In 2020, the total population size of Australia was estimated to be 25.69 million.
  • Birth rate: In 2020, the crude birth rate was 12 births per 1,000 people
  • Death rate: In 2020, the crude death rate was 6 deaths per 1,000 people.
  • Infant mortality rate: In 2019, the crude infant mortality rate was 3.1 deaths per 1,000 live births.
  • Average life expectancy: In 2020, the average life expectancy was 83 years.
  • Ethnicity: In the 2016 Australian census, the most commonly nominated ancestries were: English (36.1%), Australian (33.5%), Irish (11%), Scottish (9.3%), Chinese (5.6%), Italian (4.6%), Italian (4.6%), German (4.5%), Indian (2.8%), Indigenous (2.8%), Greek (1.8%), Dutch (1.6%), Filipino (1.4%), Vietnamese (1.4%), Lebanese (1%).

Healthcare system

Australia’s healthcare system has a reputation of being one of the most comprehensive in the world. It has an institutionally set publicly funded health system that’s underpinned by a ‘universal access’ principle. This entitles Australian residents to subsidised treatment from health care professionals (i.e., doctors, medical specialists, etc.) and access to free treatment in publicly funded hospitals. Medicare has been Australia’s universal health care scheme since 1984.

The system has two major parts: the public health system and the private health system. Patients can access healthcare through one of these two systems, or a mix of both. 81% of Australians rate the quality of healthcare as ‘good’ or ‘very good’ and 74% of Australians trust that their healthcare services will provide them with the best treatment, above the global average of 50%.

The system is jointly run by all levels of Australian government with funding and responsibilities shared between federal, state and territory governments. This fragmented funding model and informational asymmetry between patients and health service providers can make coordinating patient care difficult.

Other key challenges of the system include an aging population, rapid urbanisation health issues and health inequality (the average lifespan of the Indigenous population is just 75.6 and 71.6 years for females and males respectively, significantly under the 83 years of the non-Indigenous population according to the Australian Institute of Health and Welfare).

Health priorities

The top five leading causes of death in 2019-2020 include Ischaemic heart disease, dementia including Alzheimer’s disease, cerebrovascular diseases, lung cancer and chronic lower respiratory diseases.

Additionally, Indigenous Australians experienced a burden of disease that is 2.3 times the rate of non-Indigenous Australians, with chronic diseases causing 64% of the total disease burden among Indigenous Australians. Furthermore, Australians living in rural and remote areas typically have shorter lives, higher levels of disease and injury and poorer access to and use of health services, compared with people living in metropolitan areas. 

Over the past few decades, Australia has implemented some successful public health initiatives. For example, incidence rates of melanomas in persons under 40 were 15% in 1997, falling to 9% in 2014. Similarly, interventions have seen mortality rates from breast cancer fall by 32% in 20 years. Furthermore, Australia has maintained a low prevalence of HIV and AIDS.

In 2020, the top 5 health problems facing the country according to the Australian public were coronavirus, mental health, cancer, obesity and drug abuse.

For mental health, the suicide rate in Australia is 12.1 deaths per 100,000 population, compared to a global rate of 9 per 100,000.

For obesity, 1 in 4 children and adolescents and 2 in 3 adults are estimated to be overweight or obese with 8.4% of the total disease burden in Australia being a consequence.

A majority of Australians (72%) believe that vaccinations against serious infectious diseases should be compulsory, higher than the global average of 64%. The National Immunisation Program (NIP) is a partnership between Commonwealth and State and Territory governments which provides free vaccines against 17 diseases and saw an increase to 94% over the past two decades. However, when facing COVID, the country’s vaccine rollout fell short of its initial targets and was criticised, being described as slow. Nevertheless, the government phased out its zero-COVID strategy and lifted most generalised public health restrictions after vaccinating 90% of the population in December 2021.

As of 12 January 2022, Australia has reported over 1,195,000 COVID cases, over 450,000 recoveries, and 2,522 deaths. Australia was one of few countries to pursue a zero-COVID “suppression” strategy until late 2021, meaning it aimed to minimise domestic community transmission.

Genomic medicine capabilities

The Human Genetics Society of Australasia was formed in 1977. The HGSA is a membership body, providing a forum, training and professional recognition for those working in human genetics.

Comprehensive genomic studies of Indigenous Australians have contributed significant evidence towards the ‘Out of Africa’ migration event and provided unique insights into population variation. For example, the genetic information showed that Aboriginal people living in desert conditions may have developed unique biological adaptations to survive the arid conditions.

The National Health and Medical Research Council (NHMRC) produce a range of resources on genetics or genomics and human health for consumers, health professionals, researchers and policy makers. Similarly, the National Health Genomics Policy Framework provides direction for governments in Australia to integrate genomics into the health system. It uses an agreed high-level national approach to policy, regulatory and investment decision-making for genomics.

Healthcare providers have offered new-born bloodspot screen (NBS) to babies in all states and territories since the 1960s and today about 99% of babies receive this screening. NBS tests for 25 conditions, phenylketonuria, hypothyroidism, cystic fibrosis and galactosaemia among them. Medicare currently funds a range of tests relevant to genetic disorders. There are presently around 220 DNA diagnostic tests available from 44 laboratories across Australia.

Unlike Canada, Britain and most European countries, Australia has not banned or restricted life insurers using genetic test results when selecting or charging for cover.

Genomic testing is also helping Indigenous groups bring their ancestors home for burial. Where graves and remains may have previously been looted or sold to museums, teams are extracting DNA from remains to confirm which community the ancient person is related to, in order to return the remains.

In April 2022, Australia became the second country after the United Kingdom to legalise a fertility procedure that mixes genetic material from three people, having passed the Mitochondrial Donation Law Reform Bill.

Notable projects

  • The National Centre for Indigenous Genomics (NCIG): Based at The Australian National University, the NCIG is a long-term initiative to bring equitable benefits of genomic medicine to Indigenous Australians. It is the custodian of an invaluable collection of DNA samples from Indigenous people across Australia
  • Mackenzie’s Mission: The Australian Reproductive Carrier Screening Project. The project offers genetic screening to couples with an increased chance of having children with serious genetic conditions and to test for conditions where early treatment can improve a child’s health.
  • ProCan: A project developing a comprehensive research database of genomic information related to cancer. It looks to develop technologies and tools to more precisely diagnose and treat individual cancer patients. 
  • Massimo’s Mission: A comprehensive, multi-disciplinary research study working to ‘close the loop’ from genetic diagnoses through to clinical treatment of leukodystrophies, a group of life-threatening conditions affecting the formation of myelin. 
  • National Kidney Genomics Program: The program is addressing the clinical need to urgently improve identification and diagnosis of novel monogenic rare kidney diseases.
  • SING Australia: Summer Internship for Indigenous Peoples in Genomics is a program developing and supporting the next generation of Indigenous researchers and professionals to ensure that future genomic research is ethical and inclusive.
  • Genomics in the Community: A join initiative of Australian Genomics and Australian patient advocacy organisations to develop interesting and accessible information for the public on genomics and genomic testing. 

Notable organisations and companies

  • Australian Genomics: Launched in 2016, Australian Genomics is a national collaboration supporting government-funded genomic research projects and the translation of genomic research into clinical practice. funded by the National Health and Medical Research Council
  • The Garvan Institute of Medical Research: The Garvan Institute is an Australian biomedical research institute. It contains The Kinghorn Cancer Centre and the Garvan-Weizmann Centre for Cellular Genomics and in 2014 became one of only three organisations in the world able to sequence the human genome at a base cost below USD$1000.
  • Australian Genomic Technologies Association: Founded in 2003 under the original name Australasian Microarray and Associated Technologies Association, AGTA is a not-for-profit dedicated to advancing and promoting the field of genomics and genomic technologies in Australasia.

Notable individuals

  • Shayne Bellingham: Bellingham was the first Indigenous Australian to be awarded a PhD in Genetics. He delivers the Leaders in Indigenous Medical Education network, and his research focuses on neurodegenerative disease, genomics and biomarker discovery.
  • Richard Cotton (1940-2015): Cotton was an Australian medical researcher and founder of the Murdoch Institute and the Human Variome Project. Cotton focused on the prevention and treatment of genetic disorders and birth defects.
  • Suzanne Cory (1942-): Cory is an Australian molecular biologist. She has worked on the genetics of the immune system and cancer.
  • Patricia Kailis (1933-2020):Kallis was an Australian business woman, geneticist and neurologist noted for her work in genetic counselling for neurological and neuromuscular disorders.
  • John Mattick (1950-): Mattick is known for his efforts to assign function to non-coding DNA, his development of one of the first recombinant DNA-based vaccines, and genetic characterisation of bacterial surface filaments involved in host colonisation.
  • John Shine (1946-): Shine is known for his role in defining the Shine-Dalgarno gene sequence, being the first to clone a human hormone gene and has cloned insulin, growth, and endorphin genes, and determined the first sequence responsible for replication of a cancer-causing virus.
  • Naomi Wray: Wray’s research focusses on development of quantitative genetics and genomics methodology with application to psychiatric and neurological disorders. She is a Director of the Program in Complex Trait Genomics (PCTG).

The future genomics landscape

The Australian Government’s Department of Health funds research into genomic medicine, primarily through the Genomics Health Futures Mission. The initiative is investing $500.1 million in genomic medicine research and aims to help Australia move towards routine use of genomics in healthcare and support clinical trials. A key component is to also advance precision medicine in partnership with Aboriginal and/or Torres Strait Islander people to deliver genomics research that is scientifically sound, culturally safe, and competent to address inequity in research participation and outcomes.

With funding from the NHMRC, a national large-scale automated reanalysis program has been launched. The project aims to accelerate rare disease gene discovery by identifying additional cases within large, rare disease datasets to support emerging gene-disease associations.

The Australian Functional Genomics Network (AFGN) is a national consortium that have developed the Australian Functional Genomics Registry with more than 2280 genes listed to help identify variants of uncertain significance.

Launched in October 2021, the National Indigenous Genomics Consortium has received funding from the NHMRC to ensure Australia’s first large scale efforts in Indigenous genomics. The team is united by the goal of ensuring diverse populations have equitable access to the life-changing potential of genomic medicine.

Teams in Australia are partnering with Indigenous communities to create genomic maps that connect ancient and historical remains with present-day groups. In addition to being used for remains repatriation, building a database of Indigenous groups’ DNA could restore other historical legacies. For example, an Australian policy lasting until 1970 removed thousands of Aboriginal children from their families. An Indigenous DNA database could help some individuals to understand their genetic heritage and identify their homeland. But such efforts also raise concerns. As a result of the history of mistreatment, some Indigenous people fear that unscrupulous governments or scientists might misuse their genetic information. And there are tensions over who should control the data and whether scientists can freely share genomic sequences. Addressing these concerns will require sensitivity, an assurance of security and providing Indigenous researchers and communities the opportunities to lead developments and studies. 

Genome analysis is becoming more commonplace across research and within clinics. A range of projects have been launched funded by the NHMRC, the Australian Government’s Medical Research Future Fund and the Genomic Health Futures Mission. These include research projects investigating acute care genomics, diagnosing neurological disorders, genomic autopsies and cardiovascular disorders.


  • Malaspinas et al. A genomic history of Aboriginal Australia. Nature. 2016.
  • Ipsos Australia. Australia leads the world on healthcare satisfaction. 2020.
  • Public Health Association Australia. Top 10 public health successes over the last 20 years. 2018.
  • Australian Law Reform Commission. Essentially Yours: The protection of human genetic information in Australia. 2010.
  • The World Bank. Australia data. 2020.

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Image credit: canva

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