Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets

Despite the public health successes of newborn bloodspot screening, uncertainty associated with variant forms of primary screening targets has led to discrepancies in medical management. This study explored health-care providers' approaches to managing atypical forms of inherited metabolic diseases (IMDs) in the absence of evidence-based guidelines.Semistructured telephone interviews were conducted with metabolic specialists. 3-Methylcrotonyl...