Metabolic disorder screening for babies expands

By Catherine E. Toth
Advertiser Staff Writer

After a successful pilot newborn screening program, the state will more than triple the number of mandated metabolic disorders tested in newborns beginning Sept. 1.

Babies born in Hawai'i will now be screened for 31 metabolic disorders instead of seven.

The cost for the test will likely increase from $27 to $47, but that is still pending approval by Gov. Linda Lingle. Most health insurance plans will cover the cost for the test because the state has mandated it, health officials said.

"It's wonderful for every newborn to have this," said Chris Matsumoto, coordinator of the Hawai'i Newborn Screening Program, part of the state Department of Health. "It will save lives. It will help prevent mental retardation. This is quite a victory for the kids."

So far the pilot program, which was financed by a $3.9 million federal grant, has screened more than 7,000 infants. One baby boy was diagnosed with isovaleric acidemia, an organic acid disorder caused by a deficiency of a particular enzyme that breaks down protein. The condition is found in one of every 100,000 newborns nationally.

The early detection may have saved the boy from severe mental retardation or death.

Screening is just one part of helping an infant diagnosed with a metabolic disorder. Most of these disorders can be treated once detected, making follow-up an important step, Matsumoto said.

But in May the pediatric genetics clinic at The Queen's Medical Center closed because of the high cost of running the program, the hospital said, leaving no place for families of children with metabolic disorders to go.

A collaborative effort between Kapi'olani Medical Center, Queen's, the state Health Department, the Hawai'i Medical Service Association and the University of Hawai'i has resulted in the formation of Hawai'i Community Genetics, which runs a metabolic and general genetics clinic near Ala Moana Center.

The clinic provides the same services once offered at Queen's.

"We were very concerned about how our kids would get metabolic care," Matsumoto said. "That forced all these agencies together (to) say, 'We gotta put our money in this.' "

The group is working on a contract with Stanford University to bring in specialized geneticists at least once a week to see patients, she said. The long-term plan is to have a full-time geneticist in Hawai'i.

"There still is follow-up for our kids," Matsumoto said.

This is the first time the newborn screening test has expanded since 1997, when the number of disorders screened jumped from two to seven.

While metabolic disorders are extremely rare, Hawai'i's rate has been higher than the national rate for four of the seven disorders being screened. Experts believe that may be because of Hawai'i's ethnic diversity.

While each of the disorders is rare, Matsumoto said, the collective incidence rate is one disorder in every 5,000 newborns in Hawai'i. About 17,500 babies are born each year in the state.

"It's a very small percentage," Matsumoto said, "but collectively, as a group, (metabolic disorders) are not that uncommon ... For every baby you detect, it can really make a difference in their lives."

Reach Catherine E. Toth at 535-8103 or ctoth@honoluluadvertiser.com.