244234 Developing standard names and codes for lysosomal storage disorders detectable by newborn screening

Wednesday, November 2, 2011: 12:50 PM

Rebecca M. Goodwin, JD , Office of the Director, Lister Hill National Center for Biomedical Communication, National Library of Medicine, National Institutes of Health, HHS, Bethesda, MD
Michael Watson, PhD, FACMG , American College of Medical Genetics, Bethesda, MD
Dietrich Matern, MD, FACMG , Associate Professor & Director, Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN
J. Gilbert Hill, MD, PHD , The Hospital for Sick Children, electronic Child Health Network, Toronto, ON, Canada
Carla Cuthbert, PhD, FCCMG, FACMG , Newborn Screening & Molecular Biology Branch & Newborn Screening Quality Assurance Prog, Division of Laboratory Sciences, NCEH, Centers for Disease Control and Prevention (CDC), Atlanta, GA
Swapna Abhyankar, MD , Lister Hill National Center for Biomedical Communications, National Library of Medicine, National Institutes of Health, Bethesda, MD
Sara Copeland, MD , Genetic Services Branch, Maternal and Child Health Bureau, Rockville, MD
Tiina Urv, PhD , Intellectual and Developmental Disabilities (IDD) Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, HHS, Rockville, MD
Deboshree Sarkar, MPH , Genetic Services Branch, Maternal and Child Health Bureau, Health Resources and Services Administration, HHS, Rockville, MD
Clement McDonald, MD , Director, Lister Hill National Center for Biomedical Communications, National Library of Medicine, National Institutes of Health, HHS, Bethesda, MD
Background: US public health programs screen four million newborns every year to identify serious but potentially treatable disorders before symptoms appear. A positive newborn screening (NBS) result must be transmitted rapidly to allow follow-up, diagnosis and intervention before the baby suffers significant morbidity or mortality. Because conditions detectable by NBS are rare, aggregate NBS results and confirmed case information across all NBS programs are needed to support quality research into improved testing and treatment; however, there are many barriers to aggregating results, including variations in condition names, screening methods and how results are reported. The Health Resources and Services Administration and the National Library of Medicine developed a panel of standard NBS names and codes to use in HL7 messages for standardizing electronic results reporting. However, screening for lysosomal storage disorders (LSDs) is a new effort and currently, there is no consensus on naming and reporting these conditions. For example, each disorder can have multiple names based on researchers' names, related genes, and affected enzymes. Objective: To develop standard condition and test names and codes to standardize electronic reporting for the LSDs detectable by NBS. Methods: Organized a Newborn Screening Translational Research Network workgroup of LSD experts, including pediatricians, geneticists, biochemists and patient advocates. Analyzed variations in naming LSDs and the tests used for screening. Created an algorithm for assigning standard codes to these tests and conditions. Results: Developed a hierarchy of LOINC codes with SNOMED CT coded answer lists for LSDs detectable by NBS. Updated the annotated example HL7 message to include guidance for reporting LSD screening results. Conclusions: Standard codes and names will enable researchers, clinicians and public health surveillance efforts to aggregate NBS results from all of the states screening for LSDs. These data are essential for creating case definitions and providing effective follow-up care.

Learning Areas:
Chronic disease management and prevention
Communication and informatics
Public health or related laws, regulations, standards, or guidelines
Public health or related research

Learning Objectives:
By the end of the session, the participant will be able to: 1. Explain the public health benefits of using health IT standards for reporting all newborn screening. 2. Describe the information about lysosomal storage disorders that is represented by a LOINC or SNOMED CT code. 3. Interpret the fields of an HL7 message segment used to report lysosomal storage disorder screening results.

Keywords: Information Technology, Child Health

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: I manage newborn screening coding and terminology activities at the National Library of Medicine.
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.