The federal government will pour hundreds of millions of dollars into genomics over the next decade, but this won’t ensure equity of access, critics say.
This year’s budget allocated $500 million to the Australian Genomics Health Futures Mission, with the aim of bringing the technology to more than 200,000 Australians over the next decade.
The mission’s first project will be a $20 million pilot study into pre-conception carrier screening for debilitating genetic birth disorders, such as spinal muscular atrophy and fragile X syndrome.
Medical associations and industry have applauded the government’s greater focus on genomics, with RANZCOG saying the mission was “an incredible world-first initiative” and The Garvan Institute calling it “vital and timely”.
Dr Melody Caramins, at The Royal College of Pathologists of Australasia (RCPA), welcomed the government’s commitment, but expressed concerns the approach would not ensure equity of access as reproductive carrier screening would only be offered to 10,000 Australian couples.
Dr Caramins, who is the chair of the RCPA Genetics Advisory Committee, said it was not clear yet which communities would be included in the trial.
While a pilot study would show how carrier screening worked in the Australia context, there was already enough evidence to support broader funding, she said.
Overseas studies already showed that carrier screening was cost-effective, she said. And RANZCOG currently recommends that women be offered carrier screening where available.
“We have been advocating to the government for what must be coming on to 10 years for national coordination and funding of genomics,” she said.
“It is finally happening, but to deliver the greatest benefits it needs to be incorporated into everyday practice and it needs to be accessible to everyone.
“So GPs need to be familiar with it, they need to be able to request it, there needs to be access to genetic counsellors. We are still far from that.”
Cystic fibrosis diagnostic testing is also being funded by the government, following four years of lobbying by the RCPA.
The five new MBS item numbers would provide free diagnostic testing for people with suspected cystic fibrosis, and carrier screening for partners.
Currently, newborns are screened for risk, but a genomic test can confirm the diagnosis.
“The earlier you diagnose it, the better treatment you will get and the better life expectancy,” Dr Caramins said.
Men with mild cystic fibrosis causing infertility could benefit from a diagnosis as their partner could also be tested, informing the couple’s decisions about IVF and pre-implantation genetic diagnosis.