Newborn screening in the United States arguably has been one of the most successful public health initiatives of the past 50 years. The state-run programs have 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. The cost of these efforts in comparison to the life-long benefits they incur is modest by any measure.
Despite all these positives, the diffuse, decentralized newborn screening system is far from perfect. 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. These delays could, and apparently did, have profound consequences for some babies, including two who were profiled in the series.
Gabler’s analysis also revealed that half the newborn screening labs were closed weekends and holidays, and that in three-quarters of the country, hospitals were supposed to send newborn screening samples overnight or via courier, but in reality samples were taking days on average to make it to screening labs, often via regular mail. Though certain states and hospitals had worse overall track records, Gabler found problems across the board. Only two states, 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,” explained Edward McCabe, MD, PhD, chief medical officer of the March of Dimes. “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.”
With a long career as a pediatrician and geneticist, McCabe for years had been aware of newborn screening issues but had encountered difficulty gaining traction to effect changes. The Journal Sentinel exposé opened a window to do so. Shortly after the series ran, McCabe wrote a commentary for Molecular Genetics and Metabolism, calling for a culture of safety around newborn screening and outlining his vision of what that would entail (Mol Genet Metab 2014;113:6–7).
Finding Best Practices
March of Dimes also 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.
Making Reforms in Arizona
As another way to bring attention to the matter, March of Dimes in September 2014 awarded Will Humble, director of the Arizona Department of Health Services, with its Newborn Screening Quality Award to recognize the state’s improvements in its newborn screening process.
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.” To his credit, Humble used the report to implement state-wide reforms and set a target of receiving 95% of all samples in the state lab within 3 days of collection, up from the baseline of 67%. By July 2014, the state had not only reached, but surpassed, that goal.
Raising the Bar on Screening Practices
In an interview with CLN, Celia Nabor, Arizona’s chief of the office of vital records and project manager for the newborn screening initiative, outlined issues the state uncovered and actions it took in concert with Arizona’s 43 birth hospitals to raise the bar for newborn screening. In a classic gap analysis, Nabor and two colleagues assessed issues throughout the state via a survey and webinar as well as site visits to selected facilities. Among other things, Nabor’s team found lack of awareness among hospitals about the state’s requirement to submit samples within 24 hours of collection, lack of a sense of urgency in submitting samples coupled with lack of information about the state’s courier service, too much dependence on one person to process screening samples, and lack of communication within hospitals about the screening process.
“We found that in some of the smaller hospitals one person did everything, knew everything, and so when that individual was out we saw some delays because nobody else was aware of the process,” explained Nabor. “We also found that some of the hospitals felt that by batching the samples they were doing their hospitals a favor because they did not know that the state was actually paying for the courier service.”
The Lab-Nursing Connection
During hospital site visits, Nabor’s team met with both lab and nursing representatives because in most institutions both have a hand in newborn sample processing, with laboratorians being “99 percent of the time in Arizona … the party that is receiving the samples from the nurses and getting the shipment out the door,” according to Nabor. Remarkably, she found new connections being made in these meetings. “In many situations we found that these two individuals had never even met each other,” she said. “The nurses basically would collect the samples and send them to the lab assuming that they would get out the door very quickly. There was no really good communication between the two groups to even know that there was a delay in either area.”
The site visits also uncovered poor sample handling procedures in some facilities. “Some of the hospitals were sending the blood spot cards to the lab wet,” recalled Nabor. “They were not drying them for the three to four hours that is recommended. They were sending them right down to the laboratory, which compromised the sample.”
Another problem involved nursing staff placing the samples in biohazard bags. “Those bags form some humidity within the bag whenever you seal them, so we asked the laboratorians to keep an eye on this,” said Nabor.
Finding Quirks, Praising Success
In addition to asking more of hospitals, Arizona’s public health authorities realized that they needed to step up their game as well. The state created a public webpage and posted individual hospitals’ transit time performance. It also sent certificates to and featured top performers on the state’s website. In addition, Arizona negotiated a state-wide contract with a new courier service, with a standard of 70% of samples arriving on the same day as sampling. The state lab also started operating on Saturdays and holidays.
Participants in both Arizona’s improvement process and the March of Dimes work group uncovered quirks in their systems virtually no one had focused on before. For example, within some hospital systems, samples from individual hospitals might be sent to a central facility before making their way to the public health laboratory, adding unnecessarily to transit times. Similarly, Nabor found that the samples of critically ill babies who went immediately to neonatal intensive care units (NICU) sometimes were not obtained promptly. The NICU staff “did not know the newborn screening processes. They did not know the critical timeframes to gather the samples, so we found that by the time the babies were getting tested in the NICU, those samples were extremely delayed,” she explained.
A Look at Results Reporting
While McCabe still has his eyes on nationwide improvements in sample transit times, he hopes as well to effect changes in how aberrant screening results get reported. Another heavy hitter in the pediatric genetics world, Marshall Summar, MD, who is the chief of the division of genetics and metabolism at Children’s National Medical Center in Washington, D.C., and president-elect for the Society of Inherited Metabolic Diseases, has called for better approaches to reporting screening results (Mol Genet Metab 2014;113:1).
In analyzing follow-up systems in three states, Summar found that when states required primary care practitioners to act as the initiation point for specialty evaluation, it resulted in “a significant increase in the time to diagnosis and treatment of patients who had serious inborn errors of metabolism.”
For his part, McCabe hopes the renewed attention to newborn screening issues and reforms like those of Arizona’s will lead to a more robust system nationally.
“We are focused on how we can make sure to develop policies and practices to avoid deadly delays.”