198060 Inborn Errors of Metabolism Information System

Sunday, November 8, 2009

Anne Jurek , Health Sciences, Exponent, Minneapolis, MN
Inborn errors of metabolism (IBEM) are rare genetic conditions in which an enzyme deficiency causes a metabolic error. Treatments need to be condition-specific because each IBEM has different symptoms. Current IBEM treatment methods are based primarily on a metabolic practitioner's personal experience. To improve this, metabolic clinicians and newborn screening specialists from seven state health departments in the Region 4 Genetics Collaborative sought to monitor differences in clinical practices and to determine the most effective treatment strategies for metabolic disorders diagnosed by newborn screening. As a result, the IBEM-Information System (IBEM-IS), a web-based disease registry, was created by this workgroup to gather uniform data and assess clinical practice differences. The IBEM-IS registry will track long-term follow up of newborn screening and clinical outcomes to be used as a platform for research regarding new strategies for treatment of IBEM. As of January 2009, the registry includes 62 cases: 46 medium chain acyl-CoA dehydrogenase deficiency, 7 maple syrup urine disease, 4 very long chain acyl-CoA dehydrogenase deficiency, 3 short chain acyl-CoA dehydrogenase deficiency, 1 long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency, and 1 trifunctional protein deficiency enrolled by centers in 6 states. We discuss the registry, expansion to other Regional Genetics Collaboratives, and integration of data with other electronic information systems, all endeavors designed to ultimately improve care for children with rare genetic disorders. This project is funded by Cooperative Agreement U22MC03963, the Region 4 Genetics Collaborative, from HRSA/MCHB.

Learning Objectives:
1. Explain the Inborn Errors of Metabolism Information System registry 2. Discuss the registry's expansion to other Regional Genetics Collaboratives and integration of data with other electronic information systems

Keywords: Information Systems, Genetics

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: I am the epidemiologist on the project.
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.