Genetic Carrier Screening

Cystic fibrosis (CF) is an inherited life-limiting genetic condition. To have a child with CF, both parents must be a carrier of the defective CF gene. Many children born with CF have no known family history. CF carriers have no symptoms of the disease and diagnosis of CF in a baby often comes as a surprise.

Could you be a Carrier?

An estimated 1 in 25 Australians carry the gene that causes CF, most of whom are unaware. To have a child with CF, your partner needs to also be a carrier of the CF gene. If both of you are carriers of the CF gene, then with each pregnancy there is:

  • a 25% chance of your child having CF
  • a 50% chance your child will be a carrier of the CF gene but not have CF
  • a 25% chance of your child not having CF and not being a carrier of CF

What is Carrier Screening?

CF carrier screening is the only genetic test that will help to identify if you are a carrier of the CF gene.

The test, which should be ordered by your GP, obstetrician or gynaecologist, involves taking a blood sample, a swab from inside the mouth or a saliva sample. A typical CF screening test will identify the most common CF genes in Australia, however, there is still a small risk that you may have a rare CF gene that would not be identified.

If you have a family history of CF, please tell your GP, obstetrician or gynaecologist before providing your sample for screening so that further testing, specific to the gene relevant to your family, is also done. CF carrier screening is only available for individuals aged 18 years and over.

Where to go for the Screening Test

Carrier screening is available throughout Australia. In WA, your GP will possibly refer you to PathWest laboratory or to a private laboratory for your CF carrier screening.

What is the cost of Carrier Screening?

Genetic testing for CF is now bulk billed for Medicare eligible patients. If you are not eligible for Medicare it will cost ~$389.

When should you have CF Carrier Screening?

Making the decision to know your carrier status is a personal choice. However, it is important that people have access to reliable information about CF so that they can make an informed choice on CF carrier screening.

The test can be ordered prior to getting pregnant or early in a pregnancy by your GP, obstetrician, gynaecologist or a genetic counsellor. Should your results indicate that you are a carrier of the CF gene, you can ask for a referral to a genetic counsellor.

Some parents are interested in finding out the carrier status of their children who do not have CF. The Human Genetics Society of Australasia guidelines on genetic counselling recommend that minors should only have carrier testing when the results will inform their health management in the immediate future.

What if the results show you are a CF Carrier?

Please ask your GP for a referral to see a genetic counsellor who will elaborate further on the findings and discuss your options and the potential impacts with you and your family. Other family members may choose to also access carrier screening or genetic counselling following a positive result

Useful Contacts

For more information on genetic services in WA, please refer to Genetic Services WA (based in King Edward Memorial Hospital)

Ph: (08) 6458 1525 – Obstetric and General Genetic Services

Ph: (08) 6458 1625 – Genetic Paediatric Services

E: gswa@health.wa.gov.au

Other Resources

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