Nine out of ten children born with cystic fibrosis are born into families with no known family history of the condition. To have a child with cystic fibrosis, both parents must be a carrier of the gene change that causes cystic fibrosis.
Cystic fibrosis carrier screening services are available to help you and your partner find out whether you are among the one million Australians who carry the gene change.
If both parents are carriers of the cystic fibrosis gene change, then with each pregnancy there is a 25% risk of that child having cystic fibrosis. Being a cystic fibrosis carrier does not mean you have cystic fibrosis and carriers usually display no symptoms of cystic fibrosis.
Carrier screening is as simple as having a blood test or a saliva swab. Other family members can choose to be tested so they are aware of their cystic fibrosis carrier status if they are planning to have children.
What is cystic fibrosis carrier screening?
Cystic fibrosis carrier screening is a genetic test that will help to identify if you have changes to the cystic fibrosis gene. The test involves providing a blood or saliva sample and requires a referral from your GP, obstetrician or gynaecologist. There are around 2 000 gene changes that cause cystic fibrosis and a typical cystic fibrosis screening will identify the most common cystic fibrosis gene changes in Australia. However, there is still a small risk that you may be a carrier of a rare cystic fibrosis gene change.
If you have a family history of cystic fibrosis, it is important to tell your GP, obstetrician or gynaecologist before providing your sample for screening. This will ensure that you are being tested for the most common cystic fibrosis gene changes as well as the specific gene change relevant to your family. For people with a close relative who has cystic fibrosis (second cousin or closer), the cost of the test is covered by Medicare. Speak to your doctor to check your eligibility for the rebate. If you have no family history of cystic fibrosis, you can pay for the test yourself.
Cystic fibrosis carrier screening is only available to those 18 years and over and is the only way to find out if you are a carrier of the cystic fibrosis gene change. The test can be ordered prior to pregnancy or early in a pregnancy. For more information about genetic testing and genetic counselling visit Genetic Health Queensland.
Cystic Fibrosis Queensland’s position on carrier screening
Cystic Fibrosis Queensland encourages people to make an informed choice about knowing their cystic fibrosis carrier status as early as possible. The earlier carrier status is known the longer carriers have to make a thorough, informed and considered choice about their reproductive options including, but not limited to, understanding the impact of having a child with cystic fibrosis, understanding the risks of having a child with cystic fibrosis and exploring IVF options. Cystic Fibrosis Queensland encourages people interested in understanding their risks of being a carrier for cystic fibrosis to consult a genetic counsellor and supports efforts to make carrier screening accessible for anyone who is interested in learning about their cystic fibrosis carrier status. This includes raising awareness of cystic fibrosis, raising awareness of carrier screening services and addressing other potential barriers to access and informed choice (e.g. cost of screening).
Genetic testing will be made free for couples planning a pregnancy, under an $81 million program to be rolled out by the federal government.
Tests are available at a cost of between $250 to $450 per person but, from November 2023, the cost will be covered by Medicare in most circumstances.
Our Carrier Screening Information Card can be found here.