Genetic carrier screening tells you about your chance of having children with an inherited genetic condition. This type of information can be useful when planning a pregnancy, or in early pregnancy.
How does carrier screening work?
Genetic carrier screening can be done when you are planning a pregnancy, or when you or your partner are in early pregnancy.
Carrier screening involves testing you and your reproductive partner to find out if you are carriers for a genetic condition.
If you and your partner are both carriers for the same condition, you usually have a 1 in 4 (or 25%) chance of having a child with that condition.
Knowing this information can be useful when planning your family.
Who should be offered carrier screening?
Approximately 1 in 20 people in Australia are carriers for at least one of the three most common genetic inherited conditions in our population: fragile X syndrome (FXS), spinal muscular atrophy (SMA) and cystic fibrosis (CF). These disorders have a significant impact on quality of life for those affected and for their families.
Research from Victorian Clinical Genetic Services (VCGS) has shown that nearly 90% of people who are identified as a carrier for these conditions have no family history of the condition.
“Many children affected by these conditions are born to families with no history”, said Dr Alison Archibald, Genetic Counsellor at VCGS.
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) and Royal Australian College of General Practitioners (RACGP) recommend every woman is offered information about carrier screening for CF, SMA or FXS, at a minimum, when they are considering pregnancy.
“Everyone should get the option of considering carrier screening, so they can make a choice about whether it is right for them,” said Dr Archibald.
What support is there for people undergoing carrier screening?
Genetic counselling is an integral part of any genetic testing process and access to a genetic counsellor should be readily available for people completing carrier screening.
A genetic counsellor is a specialised health professional, who can support you through understanding your results, any genetic implications of those results, and what your next steps might be.
“Meeting with a genetic counsellor is about talking about your test results and options, but it's also about being provided emotional support during a time of lots of sometimes complex information”, said Dr Archibald.
“It’s ideal to use a screening service that provides a comprehensive genetic counseling support, because usually that means you can access a genetic counselor when you need them.”
Dr Alison Archibald recently featured on The Good GP podcast, with Dr Krystyna de Lange.