Developing standard case definitions of newborn screening disorders for epidemiological surveillance

Objective: To develop a feasible and predictive model of standardizing diagnostic criteria for disorders on the Recommended Uniform Screening Panel (RUSP) for the purpose of harmonization across programs for national monitoring of babies' health outcomes. Background: Four million newborns are screened for over 29 conditions every year in the United States. Each year up to 19,000 infants are identified with a serious but potentially treatable disorder. Each case is confirmed in a different manner with different work up. At this time there are no standard criteria to define a case and insure that they are comparable from state to state. Without such criteria, it is impossible to determine the true prevalence and incidence of these disorders and outcomes Methods: Have a consensus meeting of content experts to establish a simple model, categorized by disorder, for applying diagnostic criteria to cases identified on newborn screening. The model will not be meant to dictate diagnostic testing procedures nor clinical management, but rather will be a means to establish the diagnosis as Definite, Probable, Possible or Unlikely based on criteria in several different categories. Outcome: After the meeting we will have one or more models based on disorder category (e.g. endocrine vs. metabolic). These models will be refined and tested for utility by several programs and practitioners. Discussion: The models will be reviewed by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). If SACHDNC accepts the models, the Committee will submit them to the Secretary of Health and Human Services for approval as a national standard for epidemiology and diagnostic categorization. Upon approval by the Secretary, the appropriate SNOMED CT and LOINC codes will be established and published.