A first-of-its-kind test could make it easier for newborns to get care for spinal muscular atrophy, a common genetic disease that is life-threatening but treatable if caught in time.
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CHICAGO, July 26, 2022 /PRNewswire/ -- A first-of-its-kind test could make it easier for newborns to get care for spinal muscular atrophy, a common genetic disease that is life-threatening but treatable if caught in time. Findings on this method and a second innovative test that could improve diagnosis of pediatric urinary tract infections (UTIs) will be discussed today at the 2022 AACC Annual Scientific Meeting & Clinical Lab Expo.
Increasing Access to Spinal Muscular Atrophy Testing Gustavo Barcelos Barra, PhD, and colleagues at Sabin Medicina Diagnostica in Brasilia, Brazil, developed a NGS panel that detects a mutation in that small spot on the SMN1 gene that causes spinal muscular atrophy. Using this NGS panel, they tested 52 DNA samples from spinal muscular atrophy patients, then compared the results to those from a single-gene PCR test (a widely used method for diagnosing this condition). After eliminating four samples for technical reasons, the researchers found that panel results for SMN1 and the single-gene test agreed in all cases. Including spinal muscular atrophy on NGS panels means that "parents do not have to look for an additional test for [this condition]," said Barra. He added that his innovation would save laboratories from performing an extra test for spinal muscular atrophy along with NGS newborn screening. Identifying Children's UTIs Quickly A team led by Jingcai Wang, MD, PhD, of Nationwide Children's Hospital in Columbus, Ohio, is the first group of researchers to show that a faster method for diagnosing UTIs in adults could also work in children. Known as UTOPIA, this method uses urinalysis results and other variables to predict UTIs, and delivers answers well before the 2-3 days needed for culture results. In order to evaluate this method's performance in children, the researchers used it to analyze data from the medical records of 5,353 children who previously underwent both urinalysis and urine culture for UTI. For each of these patients, the researchers entered their age, sex, risk for UTI, and urinalysis results into UTOPIA's algorithm to see how accurately it predicted their urine culture results. Based on receiver operating curve (ROC) value, UTOPIA predicted positive urine culture results more accurately than any individual variable did on its own. The algorithm's ROC value was 0.825, versus values for individual variables, which ranged from 0.546 to 0.776. The closer the ROC value is to 1, the more accurate the testing strategy, Wang explained. "UTOPIA is a simple way to predict urine culture results. You get quicker diagnosis of UTI and prevent potential kidney damage," Wang said. "It can potentially reduce unnecessary urine cultures, save money, and reduce use of unnecessary antibiotics in children." Abstract Information Abstract A-155: Incorporating spinal muscular atrophy screening by next-generation sequencing into a comprehensive multigene panel for newborn sequencing: a pilot evaluation will be presented during: Scientific Poster Session Abstract B-243: Evaluation of a prediction algorithm value in predicting positive urine culture in pediatrics: a retrospective cohort study at Nationwide Children’s Hospital will be presented during: Scientific Poster Session Both sessions will take place in the Poster Hall of the Clinical Lab Expo show floor at the McCormick Place Convention Center in Chicago. About the 2022 AACC Annual Scientific Meeting & Clinical Lab Expo At the AACC Clinical Lab Expo, more than 750 exhibitors will fill the show floor of the McCormick Place Convention Center in Chicago with displays of the latest diagnostic technology, including but not limited to COVID-19 testing, artificial intelligence, mobile health, molecular diagnostics, mass spectrometry, point-of-care, and automation. About AACC Christine DeLong Molly Polen
SOURCE AACC |
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