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Inborn Errors of Metabolism Collaborative: Large-Scale Collection of Data on Long-Term Follow-Up for Newborn-Screened Conditions

baby on Mothers shoulder

Why is NBS data so crucial to the health and wellbeing of newborns? In the past, interventions used to treat many NBS conditions were chosen based solely upon the experiences of the medical professional(s) overseeing the patient. Without protocols based on clinical evidence, clinicians caring for patients with inborn errors of metabolism (IBEM), such as Phenylketonuria (PKU), are faced with challenging treatment decisions. Using data collected through newborn screening, organizations like the Inborn Errors of Metabolism Collaborative (IBEMC) and NBSTRN work to bridge information gaps between clinicians by providing them with clear and consistent evidence of best practices for treating IBEM.

The data collected by the IBEMC is used for medical research regarding the medical status and long-term outcomes of patients. To date, over 2,100 patients have been enrolled in the IBEM-IS, which includes 7,300 unique data elements and nearly 750,000 completed data fields. The data allows clinicians to observe and discover more valuable information about these rare conditions and promote the development of evidence-based practice in patient care.

This article suggests that cooperation throughout medical centers across the country is needed to systematically accumulate data on patient management, treatment, and long-term outcomes for NBS condition. Author Susan A. Berry from the University of Minnesota explains how she and her colleagues solved data accumulation and medical center collaboration problems by using the Inborn Errors of Metabolism Information System (IBEM-IS), a data collection system that is accessible to metabolic clinics nationwide, to collect data on the history of inborn errors of metabolism (IBEM). Dr. Berry hopes that information from this study and the IBEM-IS will develop an evidence base for treatment able to provide clinicians with information that will enable them to provide optimal care for their patients; allowing those patients to reach their full potential for living healthy lives.

Susan A. Berry, MD is a nationally recognized geneticist and an expert in inborn errors of metabolism. She is currently a professor in the Departments of Pediatrics, Ophthalmology and Genetics, and Cell Biology and Development at the University of Minnesota. She is also associated with the American College of Medical Genetics and Genomics and offers her expertise in a diverse array of other medical organizations.

The Newborn Screening Translational Network (NBSTRN) is an international network of clinicians, researchers, parents, and advocates working together to discover new technologies and treatments to advance newborn screening research. NBSTRN provided funding for this study. NBSTRN also provided support for this study using NBSTRN’s Longitudinal Pediatric Data Resource (LPDR) and by connecting experts in newborn screening from across the nation.

Learn more about this study at:

Berry SA, Leslie ND, Edick MJ, Hiner S, Justice K, Cameron C. Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions. Genet Med. 2016;18(12):1276-1281. doi:10.1038/gim.2016.57


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