Genetic testing

Before you have a genetic or genomic test, you will need to give informed consent. This means that your health professional will explain to you:

• what the test is
• how it works
• why the test is being offered
• the possible benefits, risks, and limitations.

You will have the opportunity to ask questions or raise any concerns. If you decide to proceed, you will need to sign a consent form.

A sample of your DNA is used in a genetic or genomic test. The DNA sample is usually taken from saliva or blood. The sample goes to a laboratory for analysis to identify any variants. If you are pregnant, a prenatal test could include a blood test, chorionic villus sampling (CVS) or amniocentesis.

The laboratory sends the results to your health professional. They will help you understand the results during an appointment. Before testing starts, your health professional will plan with you about how you want to receive your results.

There are many types of genetic and genomic testing. The type of test will depend on many factors such as any symptoms you have or family history of a condition.

Common reasons for genetic testing

• Diagnostic testing – confirms or rules out a suspected genetic condition. Diagnostic testing is for individuals who have symptoms.
• Predictive testing – looks at the chance of developing a condition that runs in the family. Predictive testing happens before there are any symptoms of a condition.
• Carrier screening – looks for variants linked to recessive genetic conditions. It helps to check the chance of passing on the condition to a child. This test is often used for family planning.
• Prenatal testing – screens unborn babies for changes in chromosomes that cause disease. Prenatal testing is commonly called NIPT or the harmony test.

Common types of genetic testing

• Single gene test – checks one or a small number of specific genes for known variants.
• Gene panel – looks at many genes related to a specific condition or symptoms.
• Whole exome sequencing (WES) - analyses part of the genome that provides instructions on how to make proteins, called the exome. Many disease-causing variants are in the exome.
• Whole genome sequencing (WGS) - looks at the entire genome for variants.
• Chromosomal testing – examines whole chromosomes to look for any changes. Changes could include extra or missing chromosomes.

Genetic tests are often described as either screening tests or diagnostic tests. It can be helpful to understand the difference when considering your options.

Screening tests

Screening tests identify people who may have a higher chance of a genetic condition. Screening can be used even if someone does not have any symptoms. These tests are usually offered to larger groups of people. For example, they may be offered during pregnancy or to people in certain age groups. A screening test does not provide a definite answer. Instead, it estimates the likelihood that a condition may be present. Most people with a positive screening result do not have the condition. A positive screening results indicates that further testing should be considered.

Diagnostic tests

Diagnostic tests are used to confirm whether a specific genetic condition is present. These tests are usually recommended after a positive screening result. They can also be recommended when there are signs or symptoms of a genetic disorder. Diagnostic testing is more definitive and provides a clear yes-or-no answer. Because of this, diagnostic tests may be more complex or involve detailed procedures.

In practice, screening and diagnostic testing are often used together. Screening helps identify when further investigation may be appropriate. Diagnostic testing can provide confirmation. Understanding this difference helps you make informed decisions. You don't have to remember everything explained here. You can discuss your options with your healthcare professional. They can help you understand what the results mean, what the limitations are, and what steps to take next.

A test may:

• confirm if a condition you have has a genetic cause
• provide information about an increased chance of developing a genetic condition in future.

This can help you to make more informed decisions about your health care and in other areas of life. It may also help you access preventative treatment or management.

The results of a genetic or genomic test are not always certain and sometimes create more questions. Sometimes the test finds a variant of uncertain significance (VUS). A variant of uncertain significance is a change in a gene that we don’t have enough information to understand.

Other times, the results show something unexpected – a finding that’s not related to why you had the test. This is called an incidental finding. For example, you might have a test to understand a heart condition. The test might show a gene change linked to an increased chance of developing a different condition. This is an incidental finding.

Depending on where your testing is done, you may have concerns about the privacy and security of your information. Some tests are ordered from online or overseas companies. You can ask your healthcare provider about the laboratory doing your testing to understand how your information will be used and stored.

This information is general in nature and not advice. Speak to an insurance broker if you would like specific advice based on your circumstances.

Health insurance

Genetic and genomic testing should not stop you from getting health insurance or impact on how much you pay for health insurance. However, a diagnosis of a condition (regardless of a result from a genetic test) may mean that health insurance companies apply waiting periods for treatment of the condition.

Life insurance, income protection, or travel insurance (existing cover)

Genetic and genomic test results should not affect existing insurance cover. If you are experiencing symptoms of a genetic condition, this may affect the cost or process when applying for income protection, life insurance, or travel insurance in the future. In some cases, it could also affect the insurance applications of your genetic parents.

Life insurance, income protection, or travel insurance (new policies)

From October 2026, new Australian laws will protect your ability to obtain life insurance. The new laws mean life insurers cannot refuse cover or charge more based on genetic test results that predict future health risks. However, life insurers can still consider your medical history or family history.

Until the new law is implemented, there is an industry-led regulation in place. This means that Australians can purchase new life insurance policies or increase their current level of cover without the results of previous genetic and genomic tests being considered, up to certain financial limits.

For travel insurance, life insurers can still make decisions about cover based on genetic test results.

This is complex and can feel overwhelming. If you have questions, please contact Genetic Health WA to find out what it means for you. You can also talk to your healthcare provider.

Genetic Health WA
Telephone: (08) 6458 1525

Email: ghwa@health.wa.gov.au

You share your genomic information with your blood relatives. Sometimes your test results may also provide information about their health. These results can be important for their medical care and may help keep them healthy. Learn how to share information with your family.

Talk to a health professional if you have concerns about how your genomic information might affect your relatives. A health professional can support you sharing your results with your relatives. For example, they could write a letter for you to share with your relatives. The letter explains how they might be affected and what they can do.

Rarely, genetic or genomic testing can reveal unexpected family relationships. For example, it might show that someone’s parent is not their biological parent. These situations are not common. If you think this might be relevant to you, you can ask your health professional about your options.