Karryn Henner had her kids tested for 60 rare diseases using a new genetic test that becomes available on July 24.
Karryn Henner had her kids tested for 60 rare diseases using a new genetic test that becomes available on July 24.

At-home genetic test for newborns

PARENTS will be able to test their newborns for more than 60 serious medical conditions using a breakthrough at-home genetic screening kit from today.

The NextGen test, invented by specialist pathology company Genepath Laboratories over four years, is designed to be used in conjunction with the newborn heel-prick test, offered free by all Australian states.

It involves a simple cheek swab which parents can do themselves and costs $980, with results guaranteed within four weeks.

Intellectual disability, severe illness and death can be avoided if some of the diseases tested for are picked up early and treated.

Genepath's director of clinical services Glenn Bennett said the NextGen test detected 50 serious medical conditions which were not previously screened for in Australia.

Queensland Health tests for 19 rare genetic conditions in newborns, including cystic fibrosis.

Dr Bennett said the conditions included in the NextGen test were chosen based on treatments being available if they were picked up early enough.

They include genetic disorders associated with heart arrhythmias and sudden cardiac death in children, which can be treated with implantable defibrillators, and familial hypercholesterolaemia, one of the major causes of preventable heart disease in young adults.

The condition can be treated with cholesterol-lowering drugs.

The test, which is not covered by Medicare, also screens for cystic fibrosis, and Genepath said it would put parents in touch with a doctor or genetic counsellor to talk through the results.

But Brisbane-based clinical geneticist Michael Gattas said he was concerned about the potential for the test to cause harm, questioning the claim that diagnosing an abnormality early would improve the outcome for some of the conditions listed.

"It does certainly have the potential to create anxiety and more medical expense for parents," Dr Gattas said.

"It could create more problems than solutions.

"I do have misgivings, given that a positive result for familial hypercholesterolaemia, for example, may make it harder for that child to get life insurance as an adult.

"Why not test the parents for familial hypercholesterolaemia instead of the child?"

He said couples would be better off getting tested for genetic conditions before becoming pregnant than waiting until after their children were born.

Tests are available for purchase online for about $600 for each parent.

"The tests screen couples for recessive conditions prior to them having children," Dr Gattas said.

"The argument there is you could go down the route of using IVF and avoid having an affected child in the first place."

Dr Bennett, a Sydney-based emergency physician, said Genepath hoped that over time, the NextGen test would become available through either private health insurance or Medicare.

He said the test, a painless mouth swab, could be ordered online by doctors or individuals and returned to the Genepath Laboratories in Sydney for analysis.

Results are sent to an individual's nominated doctor to be explained in detail.

Dr Bennett defended the high cost of the test, which would be beyond the means of many families, saying it had the potential to be lifesaving in some children.

"In some ways, it's priceless," he said.