Screening for heritable conditions gets funding nod

Fragile X syndrome, spinal muscular atrophy and cystic fibrosis should be screened for free, MSAC has recommended.

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Mothers should be screened for fragile X syndrome, spinal muscular atrophy and cystic fibrosis, and have public funding to do so, a governmental advisory board has decided.

The Medical Services Advisory Committee (MSAC) determined that testing of asymptomatic parents-to-be should be covered by the MBS, following an application by the Royal College of Pathologists of Australasia (RCPA).

If Health Minister Greg Hunt approves the MSAC recommendation, which health ministers commonly do, couples who are planning a pregnancy or are in the early stages of pregnancy would be eligible for the free blood or saliva tests – even without a family history.

Dr Melody Caramins, clinical lead for the application and former Chair of the RCPA Genetics Advisory Committee, called this an “extremely promising” step forward.

“These disorders are recognised as having either a significant disability associated with them, or are life-threatening or life-shortening, and together occur at rates comparable to chromosomal disorders such as Down Syndrome, that we already screen for prenatally,” she said in a statement.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommends all women be informed about carrier screening for these conditions if they are considering having a child.

“There is strong support in the medical community to make this testing available,” said Dr Caramins.
While around one in 20 people is a carrier of fragile X syndrome, spinal muscular atrophy or cystic fibrosis, most don’t know it. Many would-be parents are already screened for inheritable conditions, but most are forced to pay the costs themselves.

“Reproductive carrier screening identifies couples at approximately 25% risk of having a child affected with one of these disorders,” she added. “There are then more reproductive options open to them in order to avoid or better manage having a child affected with the disorder.”

Dr Caramins noted the health inequalities that affect those in less advantaged locations in Australia, who are significantly less likely to have reproductive carrier screening than those living in the most advantaged areas.

“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.”