The Federal Government needs to immediately commit to a major investment in pathology test screening for cystic fibrosis and to make such tests more available for all couples planning a family.
Australian Pathology, which represents 95 per cent of the industry’s private pathology organisations in Australia, said such screening was the missing link in the Morrison Coalition Government’s announcement yesterday, but would complement the announcement of funding for a cystic fibrosis centre in Sydney.
Cystic Fibrosis Australia says the inherited disorder has a birth prevalence in Australia of approximately one in 3700.
Approximately 1 in 25 Australians are carriers of a genetic mutation responsible for cystic fibrosis.
Australian Pathology Chief Executive Officer Liesel Wett said pathology screening for cystic fibrosis was essential.
“The announcement of a cystic fibrosis center was welcome but there is more that needs to be done and pathology screening is a critical element. Prevention seems to be missing in the Prime Minister’s announcement.
“The tests for three inherited conditions – Fragile X syndrome, Spinal Muscular Atrophy (SMA) and Cystic Fibrosis – are non-invasive blood tests and regarded as worldwide best practice for women and their partners to be performed before pregnancy or early in pregnancy,” Ms Wett said.
“These diseases are responsible for significant morbidity and premature mortality both in infancy and adulthood and place an enormous financial burden on parents and the healthcare system.”
Ms Wett said pathology testing was essential to help identify carriers.
“With one in 25 people being a potential carrier of a single copy of the cystic fibrosis gene change it is important to be tested,” she said.
“Significantly, people who carry one copy of the cystic fibrosis gene change do not have any symptoms of the condition.
“Testing is necessary to identify carriers.
“If two people carry the cystic fibrosis gene change and they have a child, each pregnancy will have a one-in-four chance that the child will have cystic fibrosis.”
Ms Wett said the cystic fibrosis tests currently were not listed on the Medicare Benefits Schedule, despite the industry push for them to be listed.
“The listing of this test on the MBS is something we have been calling for, for many years. Without this, it means that only those couples that can afford to pay for this test are able to access it under the current situation, and those that cannot afford to, do not have the test,” she said.
“Funding for the test prior to pregnancy would seem like a no-brainer. The test is actually one that helps inform parents and investing in it makes good sense. “Australian Pathology calls on the Morrison
CEO, Australian Pathology