A Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome screening test
From 1st November 2023, reproductive genetic carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS) will be fully Medicare-rebatable*.
These Medicare items now make genetic carrier screening accessible to the wider Australian population; the test is covered once in an individual’s lifetime.
Gene Access
The Clinical Labs Gene Access Genetic Carrier Screening test provides patients with information regarding their chances of having a child with cystic fibrosis (CF), spinal muscular atrophy (SMA), or fragile X syndrome (FXS).
- One in 20 individuals are carriers of at least one of these conditions;
- 90% of carriers do not have a family history;
- One in 160 couples will be found to be at risk of having an affected child.
CYSTIC FIBROSIS (CF)
Approximately one in 25 individuals are carriers of CF, and CF genetic testing covers more than 75 common mutations in the CFTR gene. CF affects about 1 in 2,500 individuals and is a severe genetic condition that causes lung and gastrointestinal problems.
SPINAL MUSCULAR ATROPHY (SMA)
SMA is an inherited neuromuscular disease historically associated with high morbidity and mortality. Approximately one in 35 individuals are carriers of SMA, and the SMA test identifies deletions of the SMN1 gene. SMA affects about 1 in 6,000 people.
FRAGILE X SYNDROME (FXS)
FXS is the most common cause of inherited mental retardation, affecting approximately 1 in 3,600 men and 1 in 6,000 women. FXS carrier screening is recommended for females, as it is inherited in a different way to CF and SMA, and it only requires that the female has the gene change (number of repeats) in the FMR1 gene for there to be a risk of having a child affected by FXS.
Genetic Carrier Screening should be offered to every woman or couple
Australian clinical guidelines (RANZCOG & RACGP)1,2 recommend offering genetic carrier screening for common genetic conditions, such as cystic fibrosis, spinal muscular atrophy, and fragile X syndrome, to every woman or couple who are either planning or in the first stage of pregnancy, regardless of their probability of having these conditions.
Ideally, screening is performed prior to conception to offer greater reproductive choice. Early detection is paramount as it allows more time for counselling and provides greater reproductive options for those at risk. With carrier screening for CF, SMA, and FXS being Medicare-rebatable, testing can be offered earlier during routine appointments, alongside other prenatal screening tests.
1. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) Guidelines.
2. The Royal Australian College of General Practitioners (RACGP) Guidelines.
*Subject to Medicare eligibility criteria.
If you require additional information about testing or need to discuss a patient, please contact:
Assoc. Prof. Mirette Saad on P: (03) 9538 6777 or E: Mirette.Saad@clinicallabs.com.au.