Genomics has enormous potential in healthcare to improve the diagnosis, treatment and management of disease. Melbourne Genomics is working to incorporate this huge potential into everyday healthcare.
What is the potential for genomics in everyday healthcare?
EXAMPLE 1: Making an earlier diagnosis
Within the first few weeks or months of life, an infant is admitted to the Royal Children’s Hospital with a number of health problems. The treating doctors believe that the infant may be suffering from a genetic condition, but it is difficult to pinpoint exactly which genetic condition because the infant’s problems are common to many different diseases, each of which can be caused by variants in several genes. A clinical geneticist (a medical doctor who specialises in genetic conditions) advises the parents that a genomic test is available which they can use to diagnose the condition. Unlike previous genetic testing methods, the genomic test will check all the genes that could be causing the infant’s problems, all at the same time. This test may provide the infant and their family with a diagnosis that would otherwise have been difficult or impossible to determine until the infant was older. In some cases, an early diagnosis can allow doctors to prescribe life-saving treatments. It can also help give parents an idea of what to expect of their child's health in the future, and how to care for them. In addition, the test may provide parents (and other family members) with information they can use in family planning.
EXAMPLE 2: Helping to guide medical decisions
An adult has been diagnosed with a form of leukaemia called Acute Myeloid Leukaemia (AML). Based on this diagnosis, the oncologist (a specialist in cancer) needs to determine whether a bone marrow transplant is a good treatment option. The oncologist advises that a genomic test is available that will simultaneously examine many genes that are associated with AML. The result of this test can be used to determine if the person would benefit from a transplant, based on identifying variants in a particular set of genes. Therefore, genomic testing information can help guide the management of this person’s condition. A bone marrow transplant could be life-saving, but in the wrong patient it's an unnecessary, invasive and complicated operation that won't help.
EXAMPLE 3: An easier path to diagnosis
A young boy has noticed that the muscles in his hands and feet are becoming increasingly weak. He seeks medical advice and is referred to a neurologist (a specialist in neurological conditions) by his family doctor. From the initial consultation, the neurologist believes that he could be suffering from a genetic condition called Charcot-Marie-Tooth disease (CMT), which affects the nervous system. The neurologist advises that a genomic test is available which can be used to determine which subtype of CMT an individual has based on identifying variants in a particular set of genes. Having this test could avoid time-consuming, invasive and painful tests, such as nerve biopsies. Genomic tests can sometimes find a diagnosis where other tests are unsuccessful. Obtaining a specific diagnosis could then help the neurologist manage treatment of this young boy. It could also allow for testing of other family members to determine if they might develop the same condition in the future, and to assist with family planning.
Can I have a genomic test?
While some companies offer 'direct-to-consumer' genetic tests, at present genomic tests are only offered through the health system and are not government-funded.
Melbourne Genomics is working to make genomic testing a routine part of healthcare. Our project is determining the benefits of genomic testing for diagnosis and treatment across a range of medical conditions, and is developing a pathway to provide genomic sequencing to patients within Victoria's healthcare system.
If you are a participant in one of our programs, please see the For participants section.
Any questions you have about genomic testing should be discussed with your medical specialists. General information on genetics services is available here.
The Genioz survey is collecting insights from all Australians on personal genomics. Anyone who is 18 years and over can complete this survey, which is funded by the Australian Research Council and coordinated through research partners including the Murdoch Children's Research Institute and Melbourne Genomics Health Alliance.