The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry.

Patient registries remove barriers to performing research by assembling patient cohorts and data in a systematic, efficient, and proactive manner. Consequently, registries are a valuable strategy for facilitating research and scientific discovery. Registries for rare diseases are arguably even more valuable since there is difficulty in assembling cohorts of adequate size for study. Recently, the NIH Office of Rare Diseases Research created a rare disease registry Standard to facilitate research across multiple registries. We implemented the Standard for the Oculopharyngeal Muscular Dystrophy patient registry created at the University of New Mexico Health Sciences Center. We performed a data element analysis for each Common Data Element defined in the Standard. Problems included the use of previous HL7 versions, non-structured data types, and a recent update to the Standard. Overall, the Standard is an excellent first step toward standardizing patient registries to facilitate work on broader questions and promote novel interdisciplinary collaborations.

Using LOINC to link 10 terminology standards to one unified standard in a specialized domain.

Despite the existence of multiple standards for the coding of biomedical data and the known benefits of doing so, there remain a myriad of biomedical information domain spaces that are essentially un-coded and unstandardized. Perhaps a worse situation is when the same or similar information in a given domain is coded to a variety of different standards. Such is the case with cephalometrics - standardized measurements of angles and distances between specified landmarks on X-ray film used for orthodontic treatment planning and a variety of research applications. We describe how we unified the existing cephalometric definitions from 10 existing cephalometric standards to one unifying terminology set using an existing standard (LOINC). Using our example of an open and web-based orthodontic case file system, we describe how this work benefited our project and discuss how adopting or expanding established standards can benefit other similar projects in specialized domains.

Inter-observer agreement on subjects' race and race-informative characteristics.

Health and socioeconomic disparities tend to be experienced along racial and ethnic lines, but investigators are not sure how individuals are assigned to groups, or how consistent this process is. To address these issues, 1,919 orthodontic patient records were examined by at least two observers who estimated each individual's race and the characteristics that influenced each estimate. Agreement regarding race is high for African and European Americans, but not as high for Asian, Hispanic, and Native Americans. The indicator observers most often agreed upon as important in estimating group membership is name, especially for Asian and Hispanic Americans. The observers, who were almost all European American, most often agreed that skin color is an important indicator of race only when they also agreed the subject was European American. This suggests that in a diverse community, light skin color is associated with a particular group, while a range of darker shades can be associated with members of any other group. This research supports comparable studies showing that race estimations in medical records are likely reliable for African and European Americans, but are less so for other groups. Further, these results show that skin color is not consistently the primary indicator of an individual's race, but that other characteristics such as facial features add significant information.