Understanding genomics in your health care
Genomic testing is improving our understanding of the molecular basis of conditions and how they can be treated or managed to improve quality of life.
Genomic testing can be offered at any point in your life for a variety of reasons. Testing can:
- Lead to a diagnosis or explanation for health symptoms
- Provide a prognosis or describe the expected outcomes of a condition
- Inform how the condition can be managed
- Inform access to targeted therapies or medications
- Inform eligibility for clinical trials
- Inform your family planning decisions
- Indicate if you are a carrier of a genetic condition
- Advise if you are at risk of developing a genetic condition
- Connect you with other people with the same condition.
​​​How genomics can help you and your family
Genomic testing may be used for the following purposes:
- Diagnostic testing – to determine the genetic cause of a condition, and assess risk for other family members
- Prognostic testing – to assess the potential outcome of a condition
- Predictive testing – to identify genetic changes that can increase your chance of developing a condition
- Disease monitoring – to assess the response to treatment, or assess disease relapse
- Reproductive carrier testing – to discover if you and your partner carry genetic changes that could mean your children have an increased chance of an inherited genetic condition
- Pharmacogenomic testing – to detect genetic changes that can affect how your body responds to certain medications.
Your genomic results are important for your health, but they can also be important for your family members. For example, if you find out that you are the carrier of a genetic condition, it might mean that your blood relatives (parents, siblings, children or cousins) may also be carriers of the same genetic condition.
Potential risks and harms of genomics
While genomics offers significant benefits, it also carries potential risks that must be managed carefully. Psychosocial impacts can arise when individuals learn they have an increased risk of developing certain diseases, which may cause worry or distress – genetic counselling can provide support and facilitate informed decision-making.
Other risks include discovering unexpected family relationships, such as non-paternity, which can have emotional and social consequences. Additionally, cybersecurity threats and unauthorised access or misuse of sensitive genetic data pose serious privacy concerns.
To minimise these risks, it is essential to access genomic services through registered health professionals and rely on the robust quality standards, checks, and balances in place within the Australian health system.
Genomics can lead to better diagnosis and better treatments
For some Australians living with rare conditions, genomic testing gives them a diagnosis after years of not knowing the cause for their symptoms. They can then seek support from relevant healthcare professionals and even other families and support networks experiencing the same condition.
Australians diagnosed with some types of cancer can have genomic testing to identify the most appropriate treatment for their specific type of cancer, which can lead to better health outcomes.
Finding the genetic cause of an inherited condition means family members can also have cascade testing to determine if they are at increased risk of inheriting the condition. This can allow for preventative measures like routine surveillance to be put in place.
Sometimes a couple who are planning a pregnancy may be shown to carry genetic variants in the same gene that give them a higher chance of having a child with a severe genetic condition, even though they themselves are only carriers of the genetic variant(s).
Some medicines act differently in people with certain genetic changes. Sometimes they may not work as well as expected, other times they can cause serious side effects. Pharmacogenomic testing can help identify this.