Quantifying the benefits of genomics

One of InGeNA's four strategic pillars is Quantifying the benefits of genomics. This pillar is about strengthening the evidence base on the value of genomics to the economy, society and patient care and exploring how to put numbers to that value. InGeNA has released one major publication under this strategic pillar 'Valuing the impact of genomics on healthcare in Australia'.

About the report:

Valuing the impact of genomics on healthcare in Australia

InGeNA commissioned Deloitte Access Economics to conduct research which will provide a snapshot of the potential value of genomics on healthcare in Australia by profiling a suite of case study applications across the screening, diagnosis, and treatment stages of the care continuum.

Within each case study, a cost-effectiveness analysis is performed to quantify the extent to which the additional upfront costs of genomic testing (compared to current practice) are offset by longer-term benefits such as improved health outcomes, cost-savings to the health system, and productivity gains to society.

Providing evidence on the impact of genomic testing relative to current practice is important given that access to these potentially lifesaving technologies in Australia varies, with some already being embedded into national, publicly funded health systems while others are offered only in some jurisdictions, only in the private sector or directly to consumers.

Valuing the impact of genomics on healthcare in Australia

Deloitte Access Economics


Valuing the impact of genomics on healthcare in Australia is published by the Industry Genomics Network Alliance (InGeNA) and Deloitte. If, for any reason, you have trouble downloading the report, please email us for a direct link.

    InGeNA does not share your information with any third party. Collected information is only used to communicate with you on information pertinent to this report as well as broader InGeNA updates.
    David Bunker

    David Bunker

    InGeNA Chair

    'Testing, diagnosis, care and treatment could soon be tailored for patients and consumers based on their unique profile as a human being. Genomics is already engaged across many facets of healthcare as it already enables access to treatment in areas like cancer and rare diseases. An understanding of genomics has been essential in the fight against COVID-19, allowing swift development of vaccines and efficient tests, as well as being a vital tool for epidemiologists.'
    Monica Ferrie

    Monica Ferrie

    CEO, Genetic Support Network of Victoria

    “Genomics has material potential to deliver life and improved quality of life, changing the trajectory of individuals and families. Genomics also has the potential to deliver immeasurable and priceless gifts such as planning, choice and hope. We recognise that the full impact of genomics can only be delivered through collaboration across stakeholders and joint commitment to outcome. It's the only possible pathway to improved lives. Genomics will deliver the right test for the right person, to receive the right treatment at the right time, and with the right supports in place.'


    InGeNA report launch webinar

    Valuing the impact of genomics on healthcare in Australia

    Monday 13 December at 1:00pm

    The Industry Genomics Network Alliance – InGeNA – Is an alliance of 21 industry members committed to realising the full potential of genomics to personalise healthcare. One of InGeNA's first reports – 'Valuing the Impact of Genomics on Healthcare in Australia' – was presented at this public webinar. Watch now to hear about the case studies, the key outcomes and understand the opportunities genomics holds for individuals, families and carers, society, and our health system.

    Summary of benefits


    Individuals are at the core of the value of genomics in healthcare. They represent the people impacted by genetic disorders, the people at risk of developing a genetic disorder, or people seeking treatment tailored to their genetic profile.


    Families/carers represent the people closest to the individual impacted by a genetic condition. They include any person who spends time caring for the individual, such as a parent, spouse, sibling, a son/daughter or friend. Improving the lives of the individual through genetic interventions can provide significant value to their families/carers.

    Health system

    Genomic interventions change how the health system delivers treatment to individuals with a genetic condition. Typically, there are higher upfront costs associated with genetic testing, however, these often lead to longer-term downstream savings as patients who have undergone genetic testing remain healthier, thus requiring less treatment.


    The benefits of genomic interventions flow through to the broader society. This is largely achieved through informal carers returning to paid employment or through individuals who are now healthy enough to work. This results in productivity gains for the economy and in turn leads to higher tax revenue for government.

    Case Studies

    The research is underpinned by a suite of five case studies which profile a range of potential diagnostic applications of genomics across the screening, diagnosis and treatment stages of the care continuum. The case studies profiled in this report are:

    Carrier screening
    Expanded carrier screening for prospective couples, relative to no screening

    Genetic carrier screening, a genetic test that determines if a person is a carrier for a serious genetic condition, has been used to demonstrate the value of genomics at the screening stage of the care continuum. This case study looks at the potential benefits of expanded carrier screening using next generation sequencing to screen for 176 conditions.

    Pompe disease
    Newborn screening and genetic confirmation testing for infantile onset Pompe disease relative to clinical diagnosis

    This case study looks at the application of genomics to screen for Pompe disease in newborns. Pompe disease is a genetic disorder that leads to problems with breaking down glycogen. The accumulation of glycogen is harmful to the human body, leading to irreversible damage to the heart, skeletal muscle and the lungs.

    BReast CAncer gene
    Testing all patients with breast cancer for BRCA1 or BRCA2 mutations, followed up with cascade testing for relatives, relative to testing based on family history only

    Some people have an elevated lifetime risk of developing breast cancer based on mutations to the BRCA1 and BRCA2. This case study estimated the number of additional BRCA carriers that could be identified through genetic testing of all people with an invasive breast cancer diagnosis. This was compared to genetic testing based only on family history.


    Use of genetic testing to confirm a diagnosis of CLN2 (a form of childhood dementia), relative to standard testing

    A snapshot of the benefits of genomics in diagnosing childhood dementia conditions. Childhood dementia represents a range of conditions defined by neurocognitive decline with multiple developmental skill losses overtime. There are over 70 types of childhood dementia and it is estimated that 1 in 2,800 children are born with a childhood dementia disorder in Australia.

    Pharmacogenetics (PGx)

    Personalising medication and treatment for depression

    While there are many different antidepressant medications available, these have varying levels of efficacy and side effects for different people. This case study looks at Pharmacogenomic (PGx) testing to guide choice of drug treatment for patients with Major Depressive Disorder (MDD).