Lab Matters Spring 2019 - Page 11

FEATURE Upping the Ante for Babies: APHL Pushes to Renew, Improve the NBS Saves Lives Act The US Centers for Disease Control and Prevention play a crucial role supporting state NBS programs via work to improve current screening tests, translational research to adapt new technologies for use in NBS, scientific training and technical assistance programs and its NBS Quality Assurance Program (NSQAP), which produces about a million (non-regulatory) blinded dried blood spot quality assurance samples to give screening laboratories an external check on their testing. A significant portion of this work—and especially the NSQAP—is funded through the NBS Saves Lives Act, enacted in 2009 and up for renewal this year. APHL and partners are asking Congress to reauthorize the act for a third five-year term (FY20-FY24) at an increased funding level of $29,650,000. Madison (left) and Mackenzie Braddock. Photo: Victoria Braddock “There’s only so much blood on a card,” said Caggana, “so we have to depend on using the same specimen.” At the same time, a push to decrease false-positives will likely mean more second and third tier screens. And, because of limited capacity and funding, more state NBS laboratories may opt to outsource this work. In place of disease-specific screening, Caggana foresees “analyzing a collection of data more broadly across each baby,” based on results from next generation sequencing or metabolomic methods, like mass spectrometry, which capture data on metabolites associated with many different cellular processes. Finally, data management—APHL’s top federal priority for this fiscal year—will loom large. Within the laboratory, there will be a need to analyze the massive datasets produced by newer technologies. And outside the laboratory, there will be a need to better manage and share follow-up data, especially across states. PublicHealthLabs @APHL As Champaigne explains, “We won’t know what we don’t know until we start [screening for new disorders]. We have to be mindful that we’re going to have some results that are indeterminate and will require long-term follow-up, and we should make some attempt to collect this information in an organized and meaningful way so we can learn how to improve test precision, as well as disease management further down the line.” Overall, said Caggana, “NBS is definitely at an interesting time, with a lot of change over the last few years” and a lot of change in progress. In the midst of this flux, children like Madison Braddock, age 7, are a reminder of why NBS matters so much. Madison, one of Champaigne’s South Carolina patients, was diagnosed at two weeks of age with glutaric aciduria, Type 1—added Peter Kyriacopoulos, APHL’s public policy director, explained that “more funding is needed so we can maintain the highest possible level of quality in laboratory testing and deliver the most accurate screening results.” Other requested updates to the act include: • Expanding the authority of the US Health Resources Services & Administration to support public, educational programing around NBS. • Commissioning a National Academy of Medicine report on the modernization of NBS, including a review of barriers that keep states from adding new conditions to their NBS panels and a review of infrastructure needs to improve timeliness of diagnosis for infants who screen positive for a NBS disorder. n to the state’s NBS panel in late 2004. Her mother, Victoria, said, “She didn’t have any abnormal signs at all.” Without the early alert provided by NBS, Victoria said, “Definitely over the next couple of months of infancy she could have had a metabolic stroke that could lead to cerebral palsy, low muscle tone and ultimately death, without the proper medical formula.” Instead, she is a happy child whose main disease complication is “a feeding tube in her tummy” to deliver her formula. And therein lie the rewards of the work: “We save two babies [from death or disability] every three days here in Missouri,” said Hopkins. “How cool is that?” n Spring 2019 LAB MATTERS 9