Genetic carrier test added to MBS

For many families, genetic carrier testing has long been out of reach, an added expense on top of everything else that comes with pregnancy.
 
But from next month, every eligible Australian will have access to a subsidised screening, thanks to its addition to the Medicare Benefits Schedule (MBS).
 
The test covers cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS), and is available to anyone who is pregnant, planning a pregnancy, and their reproductive partner.
 
Last year, the Federal Government pledged $80 million to create the new Medicare item, aimed at giving families better access to screening.
 
Currently, the test costs up to $450.
 
Professor of Primary Care Cancer Research at the University of Melbourne, Jon Emery, encouraged GPs to flag the test to couples pre-conception, and also to have relevant conversations during the first trimester.
 
‘These tests, until now, have been limited to couples who could afford to pay for them. Now all couples have the choice to take this test,’ he told newsGP.
 
‘The three conditions that are covered by the test are serious, inherited paediatric conditions.
 
‘Knowing your risk of having a child with one of these conditions offers couples a range of reproductive choices, especially if tested before conception.’
 
The RACGP’s Beware the Rare campaign was launched to raise awareness of the conditions, and to help patients understand what testing involves and what it means if they are identified as a carrier.
 
It is now recommended that carrier screening be offered to all women planning a pregnancy or in the first trimester of pregnancy, regardless of family history or geographic origin.
 
The three conditions are the most common inheritable genetic disorders, resulting in reduced life expectancy for those affected.
 
Around 5% of Australians are a carrier for one or more of the conditions, and about one in 240 couples will both be carriers.
 
The MBS addition comes after the Mackenzie’s Mission research study offered reproductive genetic carrier screening to 10,000 couples across Australia.
 
The project was designed to investigate the best way to deliver a national reproductive genetic carrier screening program to all couples.
 
The three-year study determined there was evidence for making free screening available to all couples in Australia who wish to have it.
 
‘Pre-conception testing allows a wider range of reproductive choices including not having children, donor gametes, or pre-implantation genetic diagnosis,’ Professor Emery said.
 
‘Chorionic villous sampling or amniocentesis during an established pregnancy are the options to determine the genetic status of the unborn child.’
 
He said ultimately, the free testing is about offering couples sufficient time to consider their choices.
 
‘This is why pre-conception testing is preferred, but there are practical challenges in knowing when to raise this, which is why most tests are offered during the first trimester,’ Professor Emery said.
 
Reproductive carrier screening remains an optional test for parents, rather than a required one.
 
The RACGP is offering accredited training on genetic carrier screening for inherited rare diseases, SMA, and other paediatric neuromuscular disorders.
 
The program is designed to help upskill GPs in recognising warning signs and when to refer to a specialist.
 
Further information and access to the training is available online.
 
Log in below to join the conversation.

genetic carrier screening preconception pregnancy