Genetics and your health

Your genes are the instructions that build your body.

We need our genes to tell our body how to work.

However sometimes these instructions can go wrong and may cause genetic conditions.

There are more than 3,000 conditions caused directly or indirectly by unexpected changes in genes.

Around half of all Australians will be affected by a condition that is at least partly genetic in origin.

These conditions may be present at birth or appear later in life.

They can be inherited from your parents or caused by random changes in genes. 

There are a range of world-class state-of-the-art genetic services offered by accredited health professionals available to Victorians.

These services can help people with or at risk of developing genetic conditions to help make informed decisions about their health care and plan for their future.

Genetic tests can help diagnose a genetic condition or reveal the likelihood of developing one.

They often help doctors and other health professionals to diagnose conditions early and can guide treatment in a way that's more tailored to their patient's individual needs.

Once a genetic condition is diagnosed, genetic tests can be offered to family members who would like to know their chance of being affected or of being a carrier of that condition.

You might want to access genetic services because a blood relative has been diagnosed with a genetic condition, and you're concerned about your or your children's chance of developing that condition.

You may be referred for a genetic test or to a genetic service by your GP or healthcare team.

You may see a genetic counselor who can provide you with information and support about genetic health conditions, help you explore what tests may be right for you, and help you understand your test results and what they mean for you or your family.

The tests themselves usually involve taking a sample of saliva, blood, or tissue. This is then sent off to a laboratory for analysis. Once analysed, the results of the tests are sent back to your doctor or the genetic Health Service.

It's important that your genetic tests are only ordered from accredited labs. Do-it-yourself tests like the ones you find online may not be assessed for quality so you can't be sure your results are accurate.

Not all genetic conditions can be tested for, and sometimes tests may not come back with an answer. But genetics is a science that is rapidly evolving. New advances in technology have greatly improved our understanding of the way inheritance affects health and disease.

There are a range of genetic services available in Victoria, all offering a range of tests. 

Carrier screening can tell you whether you and your partner carry a genetic change for the same specific condition, for example cystic fibrosis.

If both parents are carriers, they do not have the condition but their children are at higher risk of inheriting that condition. 

Prenatal screening tests estimate the chance of your baby having a higher risk of being affected by a chromosomal condition such as Down syndrome.

Examples of these tests include non-invasive prenatal testing or NIPT, and first trimester maternal serum screening.

Diagnostic testing can identify or rule out a specific genetic condition. For example, you may be offered a diagnostic procedure such as amniocentesis or chorionic villus sampling if you have an irregular ultrasound or receive a high-risk result on a prenatal screening test.

If an individual in your family is diagnosed with a genetic condition, you may be offered predictive testing to find out whether you are likely to develop this condition later in life. 

Risk assessment of relatives who may carry or be at risk of inheriting a genetic condition can also be useful.

In some cases families may have inherited gene changes that can increase their risk of cancer. Family cancer clinics can help assess your individual situation.

Your health professional will advise you as to which tests are covered by government funding such as Medicare.

The genetic support network of Victoria is connected to a wide range of support groups throughout Victoria and Australia, and can connect you with individuals and families affected by a genetic condition.

In Victoria there are three metropolitan hubs that provide genetic services across the state. This includes outreach clinics in select metropolitan, rural and regional hospitals. Some health services may offer the option of telehealth video consultations. This connects you to your clinician via a video link. Some clinics are general, covering all genetic conditions. Others specialise in addressing specific conditions such as familial cancer, cardiology or neurogenetics.

To find out more about genetic services and the conditions that can be detected by a genetic test, please visit the Better Health Channel website at www.betterhealth.vic.gov.au/geneticservices