Dr. Scott A. Rivkees, associate professor of pediatrics at the School of Medicine, presented testimony on newborn screening to the United States Senate Committee on Health, Education, Labor and Pensions Subcommittee on Children and Families on June 14.
"Newborn screening programs save lives, prevent retardation and reduce serious illness in children," said Rivkees, a member of the Genetics Advisory Committee of the Newborn Screening Program in Connecticut, headed by Senator Chris Dodd.
"Testing infants at birth for conditions that can influence their metabolism and ability to make necessary hormones needs to be expanded," said Rivkees. "At the present time, Connecticut screens for eight disorders and is in the process of adding to the number of conditions that can be screened for. There is tremendous variability from state to state in terms of how infants are tested for these conditions."
Rivkees said one of the goals of Dodd's committee is to help establish national standards for newborn screening that will help reduce state-to-state variability -- so that no matter where children live in the United States, they will have an equal likelihood of having these uncommon conditions detected soon after birth.
Connecticut passed legislation in June that will allow a new technology called tandem mass spectrometry to test the blood of newborns for about 20 rare disorders. Many of these diseases can be detected with blood tests within a few hours, and can be controlled with treatment.
In his testimony, Rivkees discussed his experiences at Yale, which is one of the treatment centers in Connecticut for children with conditions detected by newborn screening. He will also share his perspective as a treating physician involved with newborn screening in Connecticut and Indiana, and as a current member of the Genetics Advisory Committee of the Newborn Screening Program in Connecticut.
"In order for newborn screening programs to be effective, program components need to be executed with precision and reliability," said Rivkees. "In Connecticut, these major components include testing, tracking, and treatment segments, and the Genetics Advisory Committee."
Rivkees said testing is dependent on the participation of hospitals and birthing centers where infants are seen and blood samples are obtained. Testing is mandatory for all children born in Connecticut. The tracking unit notifies primary care providers and treatment centers of abnormal test results. This unit actively ensures that the babies with detected problems are promptly evaluated and treated. Children with detected problems are sent to treatment centers.
In Connecticut, the endocrine and metabolic treatment centers are located at Yale and the University of Connecticut. The sickle cell treatment centers are located at Yale and St. Francis Hospital. The Genetics Advisory Committee is responsible for reviewing the activities of the state laboratory, the tracking unit, the treatment centers and confirmed cases.
Rivkees will also highlight the importance of testing for congenital hypothyroidism, the most common of the conditions tested for by newborn screening programs. It occurs in 1 in 4,000 children and is the most common preventable cause of mental retardation.
-- By Karen Peart
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