Made up of clinical genetic-metabolic disease specialists, state Departments of
Health staff, parents, epidemiologists, and care coordinators, the Priority 2 workgroup has developed and is implementing a comprehensive Inborn Errors of Metabolism Information System (IBEM-IS).
This HIPAA compliant disease registry will include all diseases screened for using tandem mass spectrometry (MS/MS). To extend utility of the IBEM-IS, activities of the Priority 2 workgroup will include facilitating direct linkages with other electronic records and with data from newborn screening programs.
It is anticipated that the IBEM-IS will result in the development of evidence-based treatment protocols, potentially improving the care, health and quality of life for children diagnosed with these rare conditions.
