What is the genetic carrier screening?

Genetic Carrier Screening is a DNA test that helps identify individuals or couples who may be at increased risk of having a child with a serious inherited genetic disorder. This information can support informed reproductive decisions. While more than one in 20 Australians is a carrier of at least one genetic condition, most have no family history of the disorder. This is because these conditions are often rare and follow specific inheritance patterns, such as autosomal recessive or X-linked.

Genetic Carrier Screening (GCS) is particularly useful for detecting the three most common inherited genetic disorders in Australia:

• Cystic Fibrosis (CF)
• Spinal Muscular Atrophy (SMA)
• Fragile X Syndrome (FXS)

Carriers of these conditions typically do not experience symptoms themselves, but they do face an increased chance of passing the disorder on to their children. Testing can help you better understand your risk and guide your reproductive choices.

How does the test work?

Our expert Genomic Diagnostics team will use the DNA from your blood sample to test for the most common inherited genetic changes that cause cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

Genetic testing is the only way to find out whether or not you are a carrier for one of these conditions.

Knowing your carrier status can help you make informed choices. For many people, genetic carrier screening provides peace of mind. For those with a higher risk of having an affected child, it provides the opportunity to consider a range of reproductive options.

About the genetic conditions screened

Cystic fibrosis, spinal muscular atrophy and fragile X syndrome can have devastating effects on life-expectancy and quality of life.

• Cystic fibrosis is the most common inherited disorder in Caucasians.
• Spinal muscular atrophy is the most common genetic cause of mortality in children under two.
• Fragile X syndrome is the most common form of inherited intellectual disability.

We provide genetic counselling free of charge for carrier couples when at least one partner has their test at one of our Healius Pathology network collection centres.

Cystic fibrosis and spinal muscular atrophy are autosomal recessive conditions, which means both parents must be carriers to have an affected child. Fragile X syndrome is an X-linked condition, so only the mother must be a carrier to have an affected child.

Hear from a genetic counsellor

If you and your reproductive partner are found to be a carrier couple for any of these conditions, you have the option of being referred by your clinician to a genetic counsellor to discuss your reproductive options, including:

• natural pregnancy, with or without prenatal diagnosis
• pre-implantation genetic diagnosis (PGD) with in vitro fertilisation (IVF) to test and then transfer embryos that are free of the condition
• the use of a sperm or egg donor
• adoption