1 in 20 people carry a gene change for Cystic Fi­brosis (CF), Fragile X syndrome (FXS), or Spinal Muscular Atrophy (SMA), and most are unaware that they are carriers. Being a carrier may not impact that person’s own health, but there is a chance that their future children may have the condition.

Carrier screening is a genetic test that can tell people if they have an increased chance of having children with an inherited genetic condition.

From 1^st November 2023, there will be a new Medicare item number that will cover reproductive genetic carrier testing for Cystic Fibrosis, Fragile X syndrome and Spinal Muscular Atrophy for people planning a pregnancy or in early pregnancy. This important development will make carrier testing more accessible, enabling people to find out at no direct cost whether they have an increased chance of having children with any of these conditions.

Read the announcement from the Federal Minister for Health Mark Butler MP here (dated 1 November)

This new Medicare item number 73451 can be used for samples taken after 1^st November. The testing may be bulk billed or provided with a gap payment – this will depend on the pathology service providing the testing.

When having screening for these conditions, the female partner is screened first and the male partner is screened if the female receives a carrier result for Cystic Fibrosis or Spinal Muscular Atrophy. Screening males for Fragile X syndrome is not necessary as male Fragile X carriers have a low chance of having children with Fragile x syndrome.

We encourage people interested in this testing to speak with their medical practitioner. It is important for people to understand how the testing works and the information that it can provide.

People who find out through screening that they have an increased chance of having children with Cystic Fibrosis, Fragile X syndrome or Spinal Muscular Atrophy should be referred to a genetic counselling service.

MORE INFORMATION ON GENETIC CARRIER TESTING FOR FRAGILE X:
* Webinar recording: Genetics of Fragile X and Carrier Testing for Fragile X  presented by Dr Alison Archibald, Group Leader –  Reproductive Genetic Counselling, Victorian Clinical Genetic Services, August 2022, for Fragile X Association of Australia.

* RACGP website:  Resources for patients, and resources and online education module for health professionals
The website of the Royal Australian College of General Practitioners has information on reproductive genetic carrier testing in a segment called “Beware The Rare”.

updated: 1 November 2023