National approach needed for CF screening

Cystic fibrosis

By Amanda Sheppeard

10 Jun 2016

Australia needs a national system to coordinate carrier screening, pregnancy screening and newborn screening for cystic fibrosis, says a leading Melbourne paediatric respiratory physician and researcher.

Professor John Massie believes a disconnect between the states, the lack of national guidelines and a central system, and poor community awareness about CF and screening options, is allowing patients to fall through the cracks.

He would like to see families offered testing in pregnancy in the same way screening is offered for Down syndrome and other genetic disorders, and more people of child-bearing age encouraged to undertake carrier testing.

“When you are delivering a diagnosis and a family looks at you and says, couldn’t we have done a test before now and you have to say yes,” he told the limbic.

“I actually find myself in moral distress because I think, in the current era, to deny people choice is unethical.”

Writing in an editorial in the Journal of Cystic Fibrosis, Associate Professor John Massie, paediatric respiratory physician at the Royal Children’s Hospital and a fellow at the Murdoch Children’s Research Institute, said newborn screening for CF was now widely accepted in most parts of the world because it offers prompt and accurate diagnosis which led.

“The inherited nature of CF means than more than the affected infants and their immediate family can benefit from the diagnosis,” he wrote.

“Family members can access cascade carrier testing to assess their own risk of having an affected child and make reproductive decisions before they have an affected child and receive that terrible phone call from the newborn screening service.

“But why does anyone have to have their first child with CF to derive these benefits when the same test used in NBS (CFTR gene mutation analysis) is widely available, and not all that expensive?”

Professor Massie’s editorial referred to four other articles in the same journal about CF screening that highlight the complementary nature of CF NBS and carrier screening.

“As we move forward we should aim for the best possible CF screening service,” he wrote. “CF NBS, cascade carrier testing and population-based screening are a continuum that could well be served by single national programs to offer all people reproductive choices and have those born with CF referred for care sooner.”

Statistics show one in 2500 babies born in Australia have CF and it is estimated that one in 25 people are carriers, and one in 625 couples both carry the gene defect, increasing the risk of having a child with CF.

Professor Massie said statistics showed the need for more community awareness, but also a need for the medical profession to offer screening choices to patients.

“Being a carrier is really common and yet awareness of that is very low,” he said.

He said Australia had pioneered newborn screening since the 1980s, and was well placed to become a world leader in setting up a nationally funded screening program that brought all the elements together – carrier, pregnancy and newborn screening as well as genetic counselling.

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