State-run newborn screening programs have been one of the most successful public health initiatives to date. They’ve identified thousands of babies with potentially life-threatening or debilitating illnesses early enough to change their health status for good. In the past decade, states also expanded the number of conditions they screen for, so that all now test for at least 28, and some as many as 56. In addition, there has been a concerted focus on maintaining high-quality test results, through the Centers for Disease Control and Prevention’s Newborn Screening Quality Assurance Program.
Despite the positives, the diffuse, decentralized newborn screening system is far from perfect, reports senior editor Genna Rollins in the March issue of CLN. A series of reports in 2013 by the Milwaukee Journal Sentinel revealed some troubling shortcomings and set in motion various local, state, and national efforts to improve the process. In an analysis of data from 31 states, the lead Journal Sentinel reporter, Ellen Gabler, calculated that in 2012, 160,000 samples took at least 5 days to reach state labs for processing, a “very conservative” estimate, as guidelines recommend 3 days, and many experts consider 5 days too long and potentially harmful to babies. Gabler’s research also revealed that half of newborn screening labs are closed on weekends, and that in three-quarters of the country, hospitals that were supposed to send newborn screening samples overnight or via courier actually sent via slower methods—often regular mail—that took days to make it to the screening labs. Some states and hospitals were found to be worse off than others, but there were problems across the board. Only Iowa and Delaware met the recommended metric of 99% of samples arriving for testing within 3 days of collection.
“The whole system was designed around [phenylketonuria] in which kids don’t die immediately; you just have to make the diagnosis in the first month of their lives in order to treat them effectively,” Edward McCabe, MD, PhD, chief medical officer of the March of Dimes, told CLN. “However, now that we’re able to identify organic acid disorders and others that have an immediate impact on the child, time has become critical. So making sure that the sample is drawn within the appropriate window and does not spend undue transit time is really very important.”
March of Dimes convened a newborn screening quality improvement work group to share best practices and identify ways to shore up some of the problems in the newborn screening system. AACC’s representative on this panel is Michael Bennett, PhD, FRCPath, FACB, DABCC, a professor of pathology and laboratory medicine at the University of Pennsylvania Perelman School of Medicine and director of the clinical chemistry and metabolic disease laboratories at Children’s Hospital of Philadelphia. Bennett’s lab plays no role in processing newborn samples for initial screening—it performs confirmatory testing for babies with positive screen results—but he believes variable and inconsistent procedures are at the heart of the problems the Journal Sentinel identified. “The real issue altogether is basic uniformity of the screening process. Each state has its own program and they are not all the same. So the issue was raised because a baby born, say, on a Friday afternoon would not get screened as quickly as a baby born on a Monday, for instance,” he said.
Rollins’ article goes on to describe numerous steps the Arizona Department of Health Services took in collaboration with the state’s 43 birth hospitals to raise the bar on newborn screening transit times. The Journal Sentinel’s report identified Arizona as having “one of the worst track records in the country, with 17% of all newborn screening samples arriving at the state lab five or more days after collection in 2012.” However, after implementing a variety of improvement measures, the state exceeded its goal of having 95% of all samples received at the state lab within 3 days.
Check out the March issue of CLN to learn more about how Arizona improved screening transit times and how the March of Dimes newborn screening quality improvement work group is identifying and disseminating best practices for sample collection and processing.