On June 14, the Senate Health, Education, Labor, and Pensions Subcommittee on Children and Families held a hearing to discuss newborn screening programs. Subcommittee Chair Christopher Dodd (D-CT) opened the hearing saying that “nothing is of greater importance than the health of our children.” Noting that newborn screening has become common practice in all states, Sen. Dodd pointed out that disparities exist among the states. While there are approximately 30 disorders that may be detected through newborn screening, only two states test for all 30 disorders. “For every child saved, an estimated two children…go undetected…and die from a preventable disorder,” he said.
Dr. Peter van Dyck of the Maternal and Child Health Bureau at the Health Resources and Services Administration (HRSA) discussed the activities the bureau is undertaking to improve the detection of inherited disorders. Calling newborn screening “one of the real successes in population-based public health,” Dr. van Dyck added that in the last several years, the advent of technology has created a “tremendously unequal process for how states screen newborns.”
Dr. van Dyck told the subcommittee that the bureau is currently funding demonstration programs to determine the validity of new technologies in newborn screening programs; collecting and evaluating data on the outcomes of newborn screening programs; conducting state training programs for scientists to use certain technologies; and funding initiatives to educate families about the importance of newborn screening. In discussing current screening programs, he pointed out that all 50 states conduct screening programs and that over 4 million infants are screened each year. According to Dr. van Dyck, state newborn screening programs are accountable to HRSA in terms of performance standards. States must report the percentage of newborns that are screened for certain conditions as well as the number of newborns treated for those conditions.
Jill Wood, a parent who lost her three-day-old newborn to a metabolic disorder that could have been detected through screening, said that she and her husband “turned their grief into action” by lobbying the state of Virginia to expand the number of disorders for which tests are performed. She said that the March of Dimes recommends that every baby receive screening for at least ten disorders.
Dr. Jeffrey Botkin of Primary Children’s Medical Center in Salt Lake City, Utah, discussed the recommendations of pediatricians to improve newborn screening programs. Specifically, he recommended the establishment of a national advisory committee on newborn screening; the development of national guidelines and standards for such screening; the development and implementation of mechanisms to assess new technology; increased support for demonstration projects across the states to expand screening; enhancing medical education and training for health professionals; identifying a medical home for all children in the state; increasing parent education and involvement during the prenatal and postnatal periods; and the establishment of a national research agenda.
Brad Therrell of the National Newborn Screening and Genetics Resource Center in San Antonio, Texas, added that there is not a national law mandating which tests should be performed on newborns. “There are 51 different laws, if you count the District of Columbia, so depending on where a baby is born, the tests differ.” He added that in nine states fees ranging from $3 to $50 are assessed to parents to have the mandated tests performed.
The subcommittee also heard testimony from Scott Rivkees of the Connecticut Genetics Advisory Committee, who discussed Connecticut’s newborn screening program. Recently, Connecticut enacted a law that requires newborns to be tested for all 30 disorders. Previously, the state required testing for eight disorders.