Reproductive carrier screening for cystic fibrosis (CF) should listed on the MBS, the Medical Services Advisory Committee (MSAC) has advised the Health Minister, Greg Hunt.
The recommendation was made in response to an application by the Royal College of Pathologists of Australasia (RCPA), which also obtained positive recommendations for screening for fragile X syndrome (FXS), spinal muscular atrophy (SMA).
“This is an extremely promising step forward and we are closer than ever to having these tests listed on the MBS,” said Dr Melody Caramins, clinical lead for the application and former Chair of the RCPA Genetics Advisory Committee.
“The addition of these items to the MBS would mean that asymptomatic couples with no family history of CF, SMA or FXS, who are planning or in the early stages of pregnancy, would be able to access carrier screening at no personal cost,” she said.
Dr Caramins said there was strong support in the medical community to make this testing available, with the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommending that every woman is offered information about carrier screening for CF, SMA or FXS when they are considering pregnancy.
She noted that although the average life expectancy for individuals with CF has increased with improved treatment regimens, there is currently no cure.
“Reproductive carrier screening is already being performed to a significant extent in Australia, but most patients are having to pay out-of-pocket, and this is a significant health equity issue in Australia, as research has demonstrated. The ability to test for genetic diseases such as this enables individuals to make informed reproductive choices and there are some potential treatments available which depend on knowing which mutations you have.”
“The addition of these tests to the MBS would have such an impact on the future of many women’s decisions and their reproductive options,” said Dr Caramins.
However MSAC is not a statutory committee and its advice and recommendations to the Minister for Health is not a guarantee that a medical service will be funded.