249720 Harmonization of Diagnostic Criteria for Hemoglobinopathies among State NBS Programs

Wednesday, November 2, 2011: 1:10 PM

Ellen Werner, PhD , Division of Blood Diseases and Resources, National Heart, Lung, and Blood Institute/NIH, Bethesda, MD
Kathryn Hassell, MD , Sickle Cell Treatment and Research Center, University of Colorado School of Medicine, Aurora, CO
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.

Learning Areas:
Clinical medicine applied in public health

Learning Objectives:
1. List hemoglobinopathies that are on the NBS panel in the US 2. Describe differences in state NBS programs that necessitate a national effort to standardize case definitions of hemoglobinopathies 3. Explain why standardized case definitions are necessary for epidemiology and public health research and data systems

Keywords: Epidemiology, Information Systems

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: I am the NHLBI Program Officer for the harmonization activity described in this presentation.
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.