NEW LIFE-SAVING TEST FOR BABIES
A BREAKTHROUGH new genetic test will allow parents to find out if their newborn has one of 60 terminal or disabling health conditions and get early treatment that could save their lives.
The NextGen test, designed by Australian genetic experts, can be ordered online and requires parents to swab the saliva inside their infant’s cheek and mail it off for testing.
Results take about one month and are sent to the family’s nominated general practitioner, with specialist genetic counselling 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, said it could often 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 by treatment and, by picking up the illness early through the new test, treatment can be more effective.
One of the diseases which can be detected by 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, known as the Boy in the Bubble, who was born with the disease in 1971 and had to live inside a germfree bubble to avoid infection. The disease is very rare with just one case for every 40,000-100,000 births each year.
“If you can do a bonemarrow transplant or stem cell transplant … the cure rate is better than if you wait until the child gets sick and is diagnosed later,” Dr Bennett said.