In a new study, conducted for the federal government and published in a supplement to the May issue of the journal Pediatrics, Stephen M. Downs, M.D. and Aaron E. Carroll, M.D., of the Indiana University School of Medicine, recommend a national uniform panel of newborn screening tests which they found to be cost saving as well as life saving.
"There is hardly anything in medicine where you can save lives of children and save money, too," said Dr. Downs, associate professor of pediatrics and director of Children's Health Services Research. "The results of our cost analysis surprised me. The conditions we are testing are rare but the impacts of these diseases are so enormous that it clearly offsets screening costs."
For the past 40 years all U.S. states and territories have mandated newborn screening for certain disorders that may not otherwise be detected before developmental disability or death occur. The number of disorders tested range from less than 10 in Texas to 53 in the District of Columbia.
Dr. Downs and Dr. Carroll weighed the cost of testing, the cost of treating the disorders and the cost to society if the conditions were not treated early. They factored in false positives and the prevalence of the disorders and eliminated biases favoring newborn screening.
Annually, at least 4 million babies are screened at birth across the U.S. Severe disorders, mostly inborn errors of metabolism, are detected in about 3,000 babies. The most commonly encountered disorder is hypothyroidism. The best known is phenylketonuria (PKU), the first of these disorders to be subjected to widespread screening.
This was the first cost-effectiveness study to examine the prospect of incorporating broad testing using tandem mass spectrometry, a method that can test for several conditions at the same time, also called "multiplexing." The IU School of Medicine researchers focused on eight of the most commonly performed tests and analyzed them as a group. "Increasing the number of tests only made the overall results better because with tandem mass spectrometry you can test for more than fifty disorders simultaneously at very little additional cost," said Dr. Carroll, assistant professor of pediatrics.