Researchers recommend national uniform newborn screening tests

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.

The cost of newborn screening is borne by the public health sector -- tests using multiplexing technology cost between $1.90 and $25.00. Benefits of newborn screening are shared by families, insurance companies, healthcare providers and the state, which pays for a portion of Medicaid costs. Of the eight tests analyzed, six were not only cost effective, they were cost saving. Two were cost effective, although not cost saving.

The new analysis assumes that for a newborn screening program to work effectively, it must go beyond testing to include working with the new parents and with the baby's health care providers. The researchers say harnessing the power of information technology can improve the whole system.

"Many doctors have never seen most of the rare disorders that can be identified by newborn screening and need guidance on taking the rapid action needed to be beneficial to these babies to help them grow to adulthood," said Dr. Downs. "We need to determine the most effective way to screen for the amount of money we have to spend. Every dollar we spend on something inefficient is a dollar we can't spend on something else."

"The lack of newborn screening program uniformity across states, new technology which can test for more and more disorders, and the complexity of genetics has led the federal government to convene an expert group and seek advice," said Dr. Downs.

Dr. Carroll added, "A newborn screening program is designed to benefit society as a whole, as well as individuals. Our study shows that it is one of the rare interventions that both improve health and save money."