This page belongs to: Action Plan for Critical Technologies

Genome and genetic sequencing and analysis (Next Generation Sequencing)

Tools and techniques for quickly sequencing (i.e. ‘reading’) the genetic material of human beings, other living organisms and viruses, and for analysing and understanding the functions of those sequences. Applications for genomics and genetic sequencing and analysis include identifying the genes associated with particular diseases or biological functions, identifying new communicable diseases, crop and livestock breeding and predicting how effective drugs will be for different patients.

Key sectors

  • Healthcare & Medical
  • Agriculture
  • Environment
  • Defence & Defence Industry
  • Energy

Estimated impact on national interest

Economic Prosperity - High
National Security - Med

Key Australian Government actions

Initiatives

  • Medical Research Future Fund (MRFF) Priority Mission
  • National Health Genomics Policy Framework 2018–2021
  • National Manufacturing Strategy – Priority area of medical products
  • National Collaborative Research Infrastructure Strategy
  • Agricultural Innovation Policy Statement
  • Various Rural RDC priority initiatives
  • Biomedical Translation Fund

Regulations

  • Privacy Act 1988 (Cwth) – section 6FA(d) health information
  • National Association of Testing Authorities standards for laboratory testing and analysis, and standard ISO15189.
  • Therapeutic Goods Act 1989 (Cth)
  • Therapeutic Goods (Medical Devices) Regulations 2002
  • Defence and Strategic Goods List 2021

Example outcomes

  • Pandemic preparedness and responsiveness
  • Improved public health outcomes and medical care
  • Improved population health screening and planning
  • Sustainable agriculture – increasing yields from plants and animals while improving their disease and stress-resistance
  • Discovery of therapeutic targets and novel therapeutics approaches
  • Improved food security (in response to climate change
  • Provision of therapeutic and food aid
  • Trade and consumer assurance through traceability and authenticity of animals and food
  • Better control of invasive species
  • Improved environmental monitoring

Underpinning science

ANZ Standard Research Classification Category

  • Agricultural biotechnology
  • Animal production
  • Applied computing
  • Applied Ethics
  • Artificial Intelligence
  • Biochemistry and cell biology
  • Bioinformatics and computational biology
  • Clinical sciences
  • Crop and pasture production
  • Data management and data science
  • Fisheries sciences
  • Forestry sciences
  • Genetics
  • Horticultural production
  • Immunology
  • Industrial biotechnology
  • Machine learning
  • Medical biotechnology
  • Sociology
  • Plant biology
  • Software engineering
  • Statistics
  • Veterinary sciences

Example applications

Readiness Level – Now

  • Vaccine development
  • Communicable diseases management – monitoring, tracing and response
  • Cell therapies for improved disease treatment (such as stem cell treatments)
  • Improved diagnostic and therapeutic targeting capability
  • Livestock selection or enhancement for improved productivity or commercial features
  • Genetic manipulation that introduces or removes genetic traits (e.g. yield or resistance)
  • Food and animal traceability – authenticity and contamination detection
  • Conservation – biodiversity, removal of pest species

Readiness Level – 2–5 years

  • Synthetic biology and downstream applications, such as alternative protein sources and precision fermentation techniques

Readiness Level – Beyond 5 years

  • Health risk prediction, early interventions and targeted treatments
  • Population wide health understanding and intervention

Australia's place in the world

The United States has the highest research impact for genomics, and has four institutions in the top ten international institutes. China has the second highest, while Australia has the sixth highest research impact, led by the University of Queensland. This is an area that Australia is particularly strong in and is regarded as punching above its weight. The United States has the highest number of genomics patents, followed closely by China, with Australia ranking 13th.

While Australia’s venture capital (VC) investment is unranked internationally, high levels of federal and state government investment has resulted in many public/academic-private partnerships. For example, the Illumina-University of Melbourne Genomics Hub, established in December 2020, is leading two flagship genomic innovation projects: development of new genomic-based technologies for simpler and more effective diagnosis of the most challenging-to-treat cancers, and a novel platform to understand the varied types of disease progression of patients with COVID-19, which will help to identify best-suited treatments for individual patients.

In addition to infrastructure investment, the Australian Government has recently established a Medicare-funded genetic testing regime to determine carrier status of genetic conditions such as cystic fibrosis and spinal muscular atrophy, recognising the importance of this technology for people planning pregnancy.

Opportunities and risks

The Australian Government has recognised the importance of genomics to society’s health outcomes and has invested heavily in human genomics research and diagnostic capabilities. Opportunities exist to further connect research institutions, make strategic international partnerships and improve food security in the longer term. Our expertise in genomics has us well positioned to develop new and sophisticated treatments for chronic diseases and cancers, create opportunities to avoid some inherited diseases, and improve our future pandemic preparedness. Research in this area is well coordinated nationally and has strong international partnerships and collaborations, which translates to better healthcare outcomes for Australians from screening to treatment development.

Our strength in genomic research also contributes to our capabilities in downstream applications, such as synthetic biology and other ‘omics technologies such as metabolomics and proteomics. However, without appropriate regulation there is a risk of genomic information being used to discriminate against individuals, such as for health insurance, or for broader demographic stigmatisation and marginalisation.

Challenges identified as a barrier to realising the potential of genomics include:

  • Lack of social licence and acceptance of gene therapies and genetic modification, resulting in poor uptake and lack of return on research investment.
  • Lack of trust, culturally appropriate engagement, governance (including uniform consent and privacy arrangements Australia-wide) and acceptance of data sharing (including for secondary purposes that an individual may not agree with), resulting in lack of utility in genetic and genomic data and adding to the lack of social licence and acceptance of the technologies.
  • Insufficient secure and cost-effective data infrastructure to collect, store, manage, access, share and analyse large volumes of data.
  • Insufficient engagement with international work, leading to underrepresentation of Australia’s diverse population in reference genomes.

Research impact (RI)

The United States has the highest research impact in this area, with Australia ranked 6th. Total volume of published research has been decreasing at around 3% p.a. over the 5 year period 2016–2020, with 27% of research involving international collaboration.

  1. USA - 56148
  2. China - 18889
  3. UK - 17844
  4. Germany - 11972
  5. Canada - 8568
  6. Australia - 8343

The research impact provides an indication of the productivity of a country or institution. Here, productivity was assumed to be represented by the volume of publications (i.e. scholarly output) as an indicator of the resources & facilities, and the level of interest in the publications as an indicator of quality.

VC investment

Australia is unranked venture capital (VC) investment for genomics and genetic sequencing. Investment in this area has been growing at 16% p.a. since 2016. The United States has the greatest VC investment in this area, well ahead of China.

  1. USA
  2. China
  3. UK
  4. Canada
  5. Netherlands

Data from Crunchbase. The Crunchbase database provides a partial view of the global VC landscape. However the quantity, quality and richness of the data are considered to be statistically significant, and indicative of global trends.

Patents - international

The number of patents filed for this field has increased by 7% annually from 2015 to 2019. Most patents for this technology were filed by applicants or inventors from the United States and China, with Australia ranked 13th.

  1. USA - 2474
  2. China - 2376
  3. R. of Korea - 476
  4. Japan - 225
  5. UK - 212
  1. Australia - 74

Research institutions - international

The United States has 6 institutes in the top 10 international institutions, with Harvard University dominating research impact. The United Kingdom has 2 institutes in the top 10 international institutes.

Rank Top International Institution Research Impact
1 Harvard University | United States 6601
2 Massachusetts Institute of Technology | United States 4765
3 University of Cambridge | United Kingdom 4463
4 Seoul National University | South Korea 4338
5 French National Centre for Scientific Research (CNRS) | France 4098
6 Wellcome Sanger Institute | United Kingdom 3946
7 National Institutes of Health | United States 3920
8 Broad Institute | United States 3784
9 Memorial Sloan-Kettering Cancer Center | United States 3713
10 Stanford University | United States 3412

Research institutions - Australia

Within Australia, the University of Queensland has the highest research impact, and is ranked 29th internationally. Second ranked University of Melbourne is ranked 50th internationally.

Rank Top Australian Institution Research Impact
1 University of Queensland 2134
2 University of Melbourne 1343
3 University of Western Australia 951
4 University of Sydney 926
5 University of New South Wales 905
6 Garvan Institute of Medical Research 863
7 University of Adelaide 395
8 Monash University 375
9 CSIRO 342
10 La Trobe University 254

Patents - Australia

Top 5 Australian Patent Applicants Patent Families
Garvan Institute of Medical Research 7
Monash University 4
University of Melbourne 3
Children’s Medical Research Institute 2
SpeeDx 2

Patents filed by Australian businesses, 2015–2019.