VALUING GENOMICS REPORT
About the report:
Valuing the impact of genomics on healthcare in Australia
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.

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
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
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
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.
CLN2
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)
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).
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.

David Bunker
InGeNA Chair

Monica Ferrie
CEO, Genetic Support Network of Victoria
Summary of benefits
INDIVIDUALS
Families/Carers
Health system
Society
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.

Webinar
InGeNA report launch webinar | Valuing the impact of genomics on healthcare in Australia
Taken place on 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.
