Reproductive carrier screening for fragile X syndrome (FXS), spinal muscular atrophy (SMA) and cystic fibrosis (CF) is now a step closer to be listed on the Medicare Benefits Schedule (MBS).

This promising step comes after an application from the Royal College of Pathologists of Australasia (RCPA) and recommendation from the Medical Services Advisory Committee (MSAC) to the Federal Health Minister, for inclusion on the MBS.

If approved, this would allow couples with no family history or symptoms of CF, SMA or FXS, who are planning or in the early stages of pregnancy, to access a Medicare rebate for carrier screening for these conditions.

These disorders have a significant impact on quality of life for those affected and for their families.

Cystic Fibrosis Community Care, the Fragile X Association of Australia and Spinal Muscular Atrophy Australia Inc. support offering carrier screening for CF, FXS and SMA and have endorsed the RCPA application and MSAC recommendation.

“This recommendation is a welcome step. Funding carrier screening through the MBS will provide equity of access for couples wishing to learn of their chance of having a child with FXS, CF or SMA” said Wendy Bruce, Executive Director of Fragile X Association of Australia.

What is reproductive genetic carrier screening?

Reproductive genetic carrier screening is a genetic test that can determine if an individual or couple have an increased chance of having children with CF, FXS or SMA. Testing can be performed on blood or saliva samples and the result will reveal if an individual is a carrier for any of these conditions.

“Approximately 1 in 20 people in Australia are carriers for one or more of these conditions, however most are usually unaware. Many children affected by these conditions are born to families with no history of disease, due to the rare nature of the conditions and patterns of inheritance”, said Dr Alison Archibald, Genetic Counsellor at Victorian Clinical Genetic Services (VCGS).

Couples who are both carriers of CF or SMA have a 25% chance of having a child affected with that condition. Women who are carriers of FXS have up to a 50% chance of having a child with FXS.

Having reproductive carrier screening before a woman is pregnant gives people knowledge about their chance of having a child with CF, FXS or SMA (and other conditions if screening for a larger group of conditions is conducted) and time to consider further testing options or other reproductive options including preimplantation genetic testing using IVF.

VCGS offers a pre and early-pregnancy screening clinic for anyone considering, or who has had a reproductive screening test through VCGS. Our reproductive genetic counselling team are available to discuss tests and results by telehealth, in person or by phone. This enables easy access to expert knowledge and support, to help people make informed decisions.

Strong medical and community support

There is strong support to make this screening available. Research from VCGS has shown that the combined affected pregnancy rate of CF, SMA and FXS is comparable to the population risk for Down syndrome – highlighting the need to routinely offer carrier screening.

“Research conducted at VCGS and the Murdoch Children’s Research Institute (MCRI) has shown that health professionals, people having screening, and people and families impacted by these genetic conditions support that this screening being made widely accessible, provided it is optional”, Dr Archibald said.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) and Human Genetics Society of Australasia also recommends every woman is offered information about carrier screening for CF, SMA or FXS, at a minimum, when they are considering pregnancy.

The proposed inclusion of carrier screening on the MBS supports this.

Following the assessment of the application, the Government will outline the outcome, including the level of funding and the requirements to offer this test via the MBS.