New screening test covering 60 genetic disorders available for newborns

Photo: Shutterstock
Photo: Shutterstock 

Parents worried about passing on inherited genetic disorders to their children can now have their babies tested for a wide range of conditions using a simple mouth swab.

While the NextGen test isn't cheap at $980, it screens for more than 60 rare genetic disorders linked to a range of cardiovascular, metabolic, neurological, respiratory and muscoskeletal conditions.

The test was developed by Sydney-based pathology practice Genepath to complement the traditional "heel prick" test newborns receive to check for medical conditions including the liver disorder phenylketonuria, cystic fibrosis and hypothyroidism.

Genepath's laboratory director Dr Ben Shum said the new test checks for 50 conditions not currently subject to genetic screening in Australia.

"We can now identify genetic conditions with DNA sequencing before any symptoms become apparent and start treatment or make the necessary lifestyle changes so that, in many cases, those conditions will never become symptomatic," he said.

Among the conditions the test checks for is Krabbe disease, a difficult-to- diagnose degenerative neurological disorder which can cause developmental delays in children.

Treatment for the condition, which children are screened for in the United States, involves bone marrow transplants.

Clinical geneticist Dr Mary Louise Freckmann said the earlier a bone marrow transplant can be undertaken for people with Krabbe disease, the better - although it is not always successful.

"There are conditions like that where you think, 'gosh if I found out that would I want to have that'," she said.

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"And I think that's part of having good information and then the opportunity is there to discuss this with a genetic counsellor before going ahead with treatment."

Dr Freckmann said as technology improves, she expects genetic tests will become more common and hopefully - as costs lower - made available under Medicare.

"Most of these conditions aren't common," she said.

"So most of the people who do the test will be coming back with a negative result, so it's more for reassurance."

Healthcare professionals or parents can carry out the mouth swab on a newborn or older child, with the sample then sent to a lab in Australia for analysis based on DNA sequencing.

Once the tests are carried out, the baby's doctor will be sent the results within four weeks so they can discuss them with the parents.

The cost of the test is not covered by Medicare.