New test lets parents screen bubs for disease

A BREAKTHROUGH genetic test will allow parents to find out if their child has one of 60 terminal or disabling health conditions and get early treatment that could potentially save their lives.

The NextGen test, designed by Australian genetic experts, can be ordered online, and it simply requires parents to swab the saliva inside their child’s cheek and mail it off for testing.

Results take about one month and are sent to the family’s nominated general practitioner. Specialist genetic counselling is included in the $980 price tag.

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

Dr Glenn Bennett, director of clinical services for the company, Genepath, which developed the test, says it can take years for parents to get a diagnosis when children have these rare diseases.

Sometimes by the time they are diagnosed, the child is too ill to be helped.

One of the diseases included in the test is severe combined immunodeficiency (SCID), where a defective immune system makes those affected highly susceptible to life-threatening infections by viruses, bacteria and fungi.

The most famous sufferer of the condition was American David Vetter, the “Boy in the Bubble”, who was born with the disease in 1971 and had to live inside a germ-free bubble to avoid infection.

Another disease included in the test is biotinidase deficiency metabolic disorder, which prevents sufferers releasing the vitamin biotin from proteins in their diet.

It can cause delayed development, seizures, weak muscle tone, breathing problems, hearing and vision loss, problems with movement and balance, and occurs in one in 61,000 babies.

“If you find it early and have a dietary supplement, you can prevent intellectual disability,” Dr Bennett said.

Paediatrician and geneticist Dr Mary-Louise Freckmann says the new genetic test was not just for newborn babies and may be useful in older children who were sick but where doctors were having difficulty diagnosing the cause of their illness.

IF YOU FIND IT EARLY ... YOU CAN PREVENT INTELLECTUAL DISABILITY