https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=38390974&retmode=xml&tool=Litmetric&email=readroberts32@gmail.com&api_key=61f08fa0b96a73de8c900d749fcb997acc09 3839097420240327
2409-515X1012024Jan28International journal of neonatal screeningInt J Neonatal ScreenNewborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.1010.3390/ijns10010010Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to the federal Recommended Uniform Screening Panel (RUSP) in the USA with a two-tiered strategy based on psychosine (PSY) as the determinant if an NBS result is positive or negative after a first-tier test revealed decreased galactocerebrosidase activity. Nine states currently screening for KD include PSY analysis in their screening strategy. However, the nomination was rejected in February 2023 because of perceived concerns about a high false positive rate, potential harm to newborns with an uncertain prognosis, and inadequate data on presymptomatic treatment benefit or harm. To address the concern about false positive NBS results, a survey was conducted of the eight NBS programs that use PSY and have been screening for KD for at least 1 year. Seven of eight states responded. We found that: (1) the use of PSY is variable; (2) when modeling the data based on the recommended screening strategy for KD, and applying different cutoffs for PSY, each state could virtually eliminate false positive results without major impact on sensitivity; (3) the reason for the diverse strategies appears to be primarily the difficulty of state programs to adjust screening algorithms due to the concern of possibly missing even an adult-onset case following a change that focuses on infantile and early infantile KD. Contracts with outside vendors and the effort/cost of making changes to a program's information systems can be additional obstacles. We recommend that programs review their historical NBS outcomes for KD with their advisory committees and make transparent decisions on whether to accept false positive results for such a devastating condition or to adjust their procedures to ensure an efficient, effective, and manageable NBS program for KD.MaternDietrichD0000-0001-6298-4138Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.BasheeruddinKhajaKIllinois Department of Public Health, Chicago, IL 60612, USA.KlugTracy LTLMissouri State Public Health Laboratory, Jefferson City, MO 65101, USA.McKeeGwendolynGTennessee Department of Health, Division of Laboratory Services, Nashville, TN 37243, USA.EdgePatricia UPUPennsylvania Department of Health, Harrisburg, PA 17120, USA.HallPatricia LPLBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.KurtzbergJoanneJDepartment of Pediatrics, Duke University Medical Center, Durham, NC 27705, USA.OrsiniJoseph JJJ0000-0002-7081-6027Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12208, USA.engJournal Article20240128
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