Thirty centers in 21 states are currently collecting data on those identified by the newborn screen to have a rare inborn error of metabolism. This is being done electronically in order to study the outcomes for individuals affected. As of December 2016, 1893 people were enrolled representing 41 conditions. The IBEMC is currently tracking 46 conditions. This is being done to enhance decision-making for clinical management and in public health, particularly regarding newborn screening programs.
The first disorder on which information was collected, in 2007, was medium-chain acyl-CoA dehydrogenase deficiency, or MCAD. Other disorders were added as found. Not all are fatty acid oxidation disorders, FODs, but some are. Subjects are eligible for enrollment if the condition they have is tested on the newborn screen. No one is enrolled without consent by the family.
The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health provide support for these centers. Some are supported by their Regional Genetics Collaboratives. New centers may be added if they agree to the center’s rules regarding data use and if they have received human subject protection approval from their institutions.
The value of such a widespread database to those in the rare community is that it is able to track both effective strategies for critical care and the results among subjects, such as mortality. This can give sufferers greater credibility among those unfamiliar with their disorders and can increase professional knowledge. Also, the genotypes of these disorders are being catalogued and followed, which may lead to greater understanding for individuals in the future. (The genotype is determined by the actual mutation and its gene location as found by genotyping. This is separate from the phenotype, or the outward expression of the disorder.) Quantifying the spectrum of severity for the screened conditions may help families understand and cope with their conditions.
Those in the FOD community may wish to ask their geneticist if the institution to which he or she is attached participates in the IBEMC, and if so, if their affected member is enrolled. More information is available at the following reference.
“Inborn Errors of metabolism Collaborative (IBEMC): Large scale data collection about long-term follow-up for newborn-screened conditions.” Susan A. Berry, et al. in Genetic Medicine Journal, 2016, December; 18(12). Doi: 10.1038/gim.2016.57