What is genomics?

Genomics is the study of genomes. Your genome is found in almost every cell of your body and contains all of the genetic information about your body.

Genomics can be used to predict disease risk, diagnose disease more accurately and guide treatment. Using genomics in healthcare is expected to grow exponentially in coming years to a personalised approach, where patients are treated based on their specific genomic information rather than the uniform approach currently used.

Your genetic material is organised into genes and chromosomes. Genes are made of DNA, which is a code or language represented as the letters A-T-C-G (which corresponds to four chemicals). The order of this code changes slightly from person to person—it’s what makes us who we are.

Your individual code determines your characteristics (for example, your eye or hair colour), your traits and what diseases you may get.

Think of your genome like a large instruction manual for what makes you ‘you’.

What can we do with genomes?

Scientists can study our genomes to better understand the unique differences between them. These differences are called variants. It’s the variations in our code that make us unique.

Variations in our code can influence whether or not we develop a disease, how it progresses and how we respond to medication.

Some variations have been shown to cause or increase our risk to certain diseases such as asthma, cancer and heart disease.

Through studying the differences and the functionality of our genomes, scientists can better understand how changes in our genome affect our health. By learning what ‘goes wrong’ in our bodies to create or contribute to disease, there is potential to correct problems that lead to disease.

Lifestyle and environmental factors—such as diet, exercise, smoking and stress—also contribute to our health. Studying how changes in our genome and lifestyle affect our health will allow us to better treat and prevent disease.

The Human Genome Project

The Human Genome Project was launched in 1990 with the goal of sequencing a human genome for the very first time. Sequencing is the type of technology used to read all DNA coding (the entire instruction manual) of a human.

The Human Genome Project took 13 years and cost $2.7 billion. Today, thanks to huge improvements in technology, genomic sequencing can be done in a few weeks, for as little as a couple of thousand dollars.

This project had profound impact on genomics and approaches to studying biology, introducing an array of tools and technologies for scientists to research human health more effectively.

The future of genomics

Genomic sequencing offers huge benefits in predicting, diagnosing and treating disease.

Medical research and clinical practice are moving away from genetic testing (for example, looking for variants in the breast cancer genes BRCA1 and BRCA2), toward testing the whole genome, or whole genome sequencing.

Genomics is driving the emerging field of ‘precision medicine’, which involves treating individual patients based on the particular genetic causes of their cancer, as opposed to uniform approaches to treatment like chemotherapy. Clinicians will be able to use genomic sequencing to deliver the right treatment to the right person at the right time, which means fewer side effects and improved outcomes for patients.

Genomics in Queensland Healthcare

Queensland Health has a number of statewide services essential to implementing genomics into Queensland’s healthcare system.

Pathology Queensland

Pathology Queensland (PQ) is Queensland Health’s statewide public pathology service. PQ’s team of pathologists, scientists and technicians test patient samples to diagnose disease and inform patient treatment.

Forensic and Scientific Services

Forensic and Scientific Services (FSS) is Queensland Health’s forensic and public and environmental health facility. FSS provides specialist scientific and medical analysis and independent expert advice to private and public sector clients locally, nationally and internationally. FSS investigates and responds to public health threats, epidemics, civil emergencies, criminal investigations and coronial matters.

Genetic Health Queensland

Genetic Health Queensland (GHQ) is Queensland Health’s public genetic health service. GHQ’s clinical geneticists and genetic counsellors work together in clinics all over Queensland to diagnose and treat patients who have a suspected or known inherited or genetic health condition.

Clinical Excellence Queensland

Queensland Health’s Clinical Excellence Queensland partners with health services, clinicians and health consumers to drive measurable improvements in patient care through its continual pursuit of excellence.

eHealth Queensland

eHealth Queensland is the division of Queensland Health responsible for implementing digital health in Queensland.

Genomics in Queensland Research

Genomics research activities are under way across Queensland’s research institutes – Queensland is home to many world-leading genomics researchers.

Metro North Hospital and Health Service Research

Metro North Hospital and Health Service is committed to setting a forward-looking research agenda that embraces novel approaches to diagnostics and therapeutics, and systematically evaluates clinical practice and implements knowledge to deliver world-class healthcare.

Metro South Hospital and Health Service Research

Metro South Hospital and Health Service is committed to improving health outcomes and preventing disease through translational research. Its laboratory and clinical research has benefitted generations of families around the world.

UQ Genomics

The UQ Genomics initiative is a virtual network that catalyses practical insights into genomics research across multiple disciplines through an integrated alliance for all genomics researchers at The University of Queensland.

QUT Institute of Health and Biomedical Innovation

Researchers at QUT’s Institute of Health and Biomedical Innovation work in partnership with healthcare professionals to ensure research can progress from laboratories to improving people’s lives.

QIMR Berghofer Medical Research Institute

Working closely with clinicians and other research institutes, QIMR Berghofer translates medical research discoveries into prevention strategies, new diagnostics and better treatments that save lives.

Griffith University Menzies Health Institute

Griffith University’s Menzies Health Institute strives to improve people’s overall health and wellbeing. Research is under way at Menzies Health Institute on all parts of life that affect our health—from social determinants of health, communicable and non-communicable disease, to clinical techniques, vaccines, musculoskeletal health and ageing.

Mater Medical Research Institute

Mater Research’s key focus areas are cancer biology and care, chronic disease biology and care, implementing evidence to improve health, mothers’, babies and women’s health, and neurosciences and cognitive health to optimise acute care.

James Cook University

JCU conducts nationally significant and internationally recognised research in areas such as marine sciences, biodiversity, tropical ecology and environments, global warming, tourism, and tropical medicine and public healthcare in under-served populations.


CSIRO is working to prevent illnesses, develop a better understanding of diseases, and improve treatment and recovery in a range of medical conditions to help people live healthier lives.

National and international Genomics

Genomics collaborations across Australia.

Australian Genomics

Australian Genomics is funded by the National Health and Medical Research Council to implement genomic medicine within Australia and provide evidence to inform policy and practice. Australian Genomics is made up of more than 70 partner organisations including clinical and diagnostic genetics services of all states and territories, state-based genomics initiatives and major research and academic institutions in Australia.

Melbourne Genomics

Founded in 2013, Melbourne Genomics has pioneered a model for creating the widespread, evidence-based change necessary to deliver genomics within the healthcare system. This model has since been adopted by the Queensland and Australian Genomics Health Alliances, the Genetic Alliance of New Zealand, and is being considered for implementation in Canada.

Sydney Genomics Collaborative

The Sydney Genomics Collaborative uses genetic technologies to improve patient outcomes and boost genomic research across New South Wales. The Collaborative uses the Illumina HiSeq X Ten, a high-speed genome sequencing system operated by the Garvan Institute of Medical Research (GIMR). This technology enables the study of whole-genome sequences at the scale of large populations.

Canberra Clinical Genomics

Canberra Clinical Genomics is a joint initiative of ACT Health and the Australian National University. The core clinical DNA sequencing services and bioinformatics build on the pipeline established at the Centre for Personalised Immunology and take advantage of the national computational infrastructure at Australian National University.

South Australian Genomics Health Alliance

To ensure South Australia continues as a major innovator at the cutting edge of genomic medicine leading researchers, clinicians and pathologists have joined to form the SA Genomics Health Alliance.

The National Health Genomics Policy Framework 2018–2021

The Genomics Framework is a cross-jurisdictional plan to align efforts to integrate genomics into the national health system. Genomics contributes to early diagnosis, better targeted treatments and disease prevention. The Genomics Framework better coordinates genomics activities across Australia to harness its benefits—an efficient, effective, ethical and equitable way to benefit all Australians.

Genomics activities around the world.

Catalogue of Global Genomics Initiatives

A catalogue of large-scale (national/regional) policies/strategies, implementation frameworks, demonstration projects or population-scale studies that are informing the implementation of genomics into health systems.

GA4GH (International)

The Global Alliance for Genomics & Health (GA4GH) frames policy and sets standards to enable responsible genomic data-sharing within a human rights framework.

Genomics England (United Kingdom)

Genomics England was set up to deliver the 100,000 Genomes Project, which will sequence 100,000 whole genomes from National Health Service patients with rare diseases, and their families, as well as patients with common cancers.

Genome Canada (Canada)

Genome Canada is an organisation funded by the Canadian Government to develop and apply genomics and genomic-based technologies to create economic and social benefits for Canadians.

Genomics Aotearoa (New Zealand)

Genomics Aotearoa is an alliance between Universities Auckland, Massey and Otago and Crown Research Institutes AgResearch, ESR, Landcare Research and Plant & Food—together with 32 associates organisations including researchers and end users of genomics and bioinformatics.

G2MC (International)

The Global Genomic Medicine Collaborative (G2MC) was established to recognise and harness activities that implement and shape genomic medicine around the globe.

All of Us (United States of America)

All of Us is a project to gather data from more than one million people living in the United States to accelerate research and improve health.

Genomic Medicine Alliance (International)

The Genomic Medicine Alliance is an international research network focusing on genomic medicine.