Washington to test newborns for more genetic disorders
When a baby is born in this country, one of the first things that happens is a pin prick to the newborn's heel. The tiny amount of blood collected and dried on a special filter card is used to screen for dozens of congenital disorders, such as cystic fibrosis, hypothyroidism and sickle cell anemia. Now, Washington state is expanding what conditions it tests for.
John Thompson, office director for newborn screening at the Washington State Department of Health, says advances in technology and new treatments make it possible to screen for more disorders in newborns. Legislative funds also have made it possible to expand lab space, he says. As a result, the state is adding two tests to the screenings.
The first new screen is for an inherited condition in boys called X-linked adrenoleukodystrophy, or X-ALD. Thompson says it affects the nervous system and can cause brain damage.
"To the effect that in late childhood some of these boys lose the ability to communicate or walk and can go into a coma and die," Thompson said. If X-ALD is detected early, he said, the child can be monitored for changes in its brain. The ultimate treatment for the disorder is a bone marrow transplant, which halts the physical and mental impairment caused by the disease.
Thompson said the premise of newborn screening is that things can be caught before symptoms are obvious and it's too late.
In addition to testing for X-ALD, the health department will start a second tier testing for cystic fibrosis this summer. Health officials say it will increase the accuracy of test results and follow up.
There are plans to add other tests in the future as well, including for mucopolysaccharidosis type 1, Pompe disease and possibly for spinal muscular atrophy. A news release from the state health department describes all of them as "serious conditions that can be debilitating and deadly." For those tests to be added, Thompson said, the state Legislature will first have to approve a fee increase to cover the costs. The current cost charged to the hospital is about $85 per newborn.
The newborn screenings are mandatory in Washington. People can opt out for religious reasons, Thompson said. He said very few parents in the state opt out. Each year, of the 85,000 newborns tested, around 200 have one of the disorders identified and, according to the health department, can receive treatment early in life.
A newborn screening advisory committee reviews any new test before it's added, following a list of criteria. Tests are done only for treatable disorders. The state Department of Health makes the final decision. Screening of newborns began in the 1960s. Washington currently screens for 29 conditions.