State Widens Testing of Infants for Far More Genetic Disorders

State health officials announced Tuesday the launch of an expanded program to screen every newborn in California for 75 genetic disorders, some of them potentially deadly.

Screening for sickle-cell anemia, hypothyroidism and 37 other congenital diseases has been mandatory in California since 1980. Legislation signed last year by Gov. Arnold Schwarzenegger nearly doubled the number of targeted conditions. California is one of only 13 states that screens for more than 30.

The screening, which covers metabolic, endocrine and hemoglobin disorders, will involve about 525,000 children born annually in California. The estimated cost of $78 per newborn will be covered by insurance or Medi-Cal, officials said.

Early testing under the expanded program has confirmed its effectiveness, officials said. Since early May, 15 newborns have been identified with genetic disorders that otherwise might have gone undiagnosed, such as amino acid or fatty acid oxidation disorders, which interfere with food metabolism.

“Today those kids would either be dead or very ill,” said state spokesman Ken August.

David Swift of Studio City was among four parents to join Department of Health Services Director Sandra Shewry and her boss, state Health and Human Services Agency Secretary Kim Belshe, in praising the early results. “They’ve done a stellar job with the testing and follow-up,” said Swift, 35, whose daughter Giana was found to have a life-threatening hereditary condition when she was born in October 2002, during a pilot phase of the program. “There’s a very good probability that Giana would be dead today or mentally and physically retarded if it weren’t for this.”

Swift’s daughter seemed fine at birth. He hesitated when a nurse asked him to participate in the pilot program when Giana was only hours old. “I said, ‘No, she’s already been pushed and poked enough,’ but then I thought, ‘Oh well, why not.’ ” Within a week, doctors were on the phone telling him to bring her in immediately.

The tests showed that Giana had a metabolic disorder that interferes with the proper digestion of a certain amino acid, which means that she must have a protein-free diet. At the time, only 32 cases in the world had been documented.

Today, with Giana on a special diet, Swift said, he and his wife, Lori, have “a very healthy and happy child.”

Under the law, introduced by former Sen. Dede Alpert, a Democrat from San Diego, every baby born in California must undergo the testing unless the parents opt out. Few say no to the test, however, which involves withdrawing a small amount of blood from the infant’s heel.

Officials said all children who test positive are monitored to ensure they receive the care they need.

“This is the largest program of its kind in the world,” said Belshe. “No baby in this program will fall through the cracks.”

Newborns have been tested for various genetic conditions in California since the 1960s. In recent years, the tests have identified about 525 infants annually with serious conditions. The added screenings are expected to add 80 to 100 to that number.

Without such testing, genetic flaws are often treated later in life or children die unexpectedly, officials said.

Intervention within days after birth can prevent mental retardation, brain damage and medical crises.

Belshe said the lifetime cost of treating someone with preventable mental retardation can be $300,000 to $1 million.