Harmonization of Diagnostic Criteria for Hemoglobinopathies among State NBS Programs

Objective: develop a metathesauras of state-specific criteria for diagnosing hemoglobinopathies in newborn screening programs (NBS), and harmonize criteria for standardized case definitions. Background: Over 100,000 Americans have a hemoglobinopathy. Affected persons are of any heritage, but usually African, Hispanic, Asian, Middle-Eastern or Mediterranean descent. RUSP-NBS includes universal testing for sickle cell. State public health laboratories use IEF or HPLC for primary screening. Confirmatory testing is offered through some state-based programs, utilizing IEF, HPLC, other electrophoresis, or DNA testing. Other states rely on clinicians to complete confirmatory testing without specifying test or diagnostic criteria. NBS recognition of additional sickle cell disorders and thalassemias varies among states. Reporting hemoglobinopathy traits, identified when screening for disease, is inconsistent and based on state policy and/or legislation. NBS is the foundation for describing epidemiologic and clinical characteristics of persons with hemoglobinopathies, and for deriving genotype prevalence. NHLBI/NIH has initiated a data system, Registries and Surveillance in Hemoglobinopathies, with CDC and HRSA to characterize hemoglobinopathy populations. Harmonized diagnostic criteria across states are important for national estimates. Methods: We are convening Working Groups of content experts to review state diagnostic criteria, and develop a metathesauras of criteria. The metathesauras will cross-walk criteria and recode them for harmonized case definitions. Outcome: Standardized case definitions for hemoglobinopathies diagnosed through NBS and confirmatory testing, and those not routinely identified on NBS. The case definition will be incorporated into hemoglobinopathy data systems. As part of HRSA models of standardized criteria for newborn-screened disorders, the harmonized case definition will be submitted for approval to the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). If SACHDNC accepts the definition, the Committee will submit it to the DHHS Secretary for approval. After approval, we will harmonize case definitions with ongoing SNOMED and LOINC activities.