Making Decisions

Carrier screening is a personal decision, and support is available if you need it.

These FAQs answer some commonly asked questions.

About genetic carrier screening

What is genetic carrier testing?

Genetic carrier testing is the process of analysing a person’s genetic material (DNA) to look for specific faults that may lead to disease in their future children.

Is it possible to test to see if a person is a carrier of a faulty gene?

Yes. For most genetic disorders the gene and gene faults (mutations) have been identified enabling the testing laboratory to look for a set panel of mutations.

Does it affect a person’s health if they are a carrier of a (recessive) genetic fault?

No. Carriers of a faulty gene copy are completely unaffected by the disorder.

Will a screening test tell me anything about my own health risks?

Only in rare cases will the result tell you anything about your own future health risks.

Who can have screening and when?

For whom is genetic carrier screening relevant?

Screening is available for all men and women over the age of 16. It is particularly relevant for those with Ashkenazi Jewish ancestry and individuals with a history of a genetic disorder in their family. People who have a known family history of a disorder should seek further information through your local genetic counselling service (listed at www.genetics.edu.au).

Why is my ancestry relevant to carrier screening?

There are different faults (mutations) found in genes. Some faults are specific to particular ethnic groups or regions in the world. Laboratory tests are commonly designed to detect specific genetic faults that are most prevalent among individuals who are of particular ancestries.

If I do not have a family history of the disease do I still need to be screened?

Yes. Over 95% of the couples with children affected by a disease have no family history of the disease because the gene is silently passed down through the generations.

Does an autosomal recessive disorder affect only males?

No. These disorders can affect both males and females.

I was tested in high school, do I need screening?

We have added several more genes to those tested at school, so you may wish to be tested again.

Do I have to have a partner to have carrier screening?

No, you can be tested now, and keep the information for when you are planning to have children.

I have a new partner, should they be screened?

If you know you carry a faulty gene then any new partner should also be screened.

When is the best time to have genetic carrier screening?

Your DNA doesn’t change, so any adult can be tested. Some people may choose to wait until they are planning a family, so their partner can be tested at the same time.

About the screening test

Will a screening test affect my insurance?

Only in the rare cases where a fault is found in a gene that affects your own health will the results affect life and disability insurance.

How will I get my results?

You will receive results by email. If a gene fault is identified, a telephone consultation with a genetic counsellor will be arranged.

What confidence can I have in the test results?

The testing laboratory has been fully accredited for medical testing by the NATA/RCPA accreditation program, and is certified to the international medical laboratory standard ISO 15189, as well as to the quality management standard ISO 9001.

The sensitivity of the results will depend on your ancestry, as some mutations are more common in individuals of particular origin. Any gene fault detected is confirmed by a second method.

Limitations of genetic screening tests

Testing through these programs is designed to look for specific genetic changes only. There are other, less common, changes in the same genes which are not detected by these tests. This means that a normal result does not rule out the possibility that the tested person is a carrier, it just makes it less likely.

Where will my DNA be tested and stored?

Your DNA will be tested and stored by government regulated laboratories in either NSW or USA, depending on which testing option you choose.