Genetic carrier screening

What is Genetic Carrier Screening?

Genetic carrier screening is DNA-based testing to identify individuals or couples at increased risk of having children with severe inherited genetic disorders, performed in order to inform reproductive decision-making.

Genetic carrier screening (GCS) is testing to identify couples at increased risk of having children with three of the most common, severe inherited genetic disorders in the Australian population:

• Cystic fibrosis (CF)
• Spinal muscular atrophy (SMA)
• Fragile X syndrome (FXS)

One in twenty Australians will be a carrier for at least one of these conditions. Most will not have a family history of the disease. Carriers are usually unaffected by the condition themselves, but are at increased chance of having an affected child.

Hear from our Chief Scientist, Genomic Diagnostics

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 options.

If you are found to be carriers of a condition, there are several reproductive options you can discuss with your doctor including:

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

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.