P.10.18 Common data elements for muscle biopsy reporting

Abstract

Physicians commonly utilize the muscle biopsy to assist in the diagnosis of neuromuscular diseases. However, there is no current standard for evaluating or reporting on findings, and the resulting variability can impede accurate diagnoses and limit the utility of the muscle biopsy as a tool for clinical care, research, and stratifying patients for clinical trials. The National Institutes of Neurological Disorders and Stroke (NINDS) recently launched a Common Data Element (CDE) in an effort to standardize neuromuscular data collected in clinical reports. For this study, the authors adapted the NINDS Muscle Biopsy CDE to generate a form for prospective muscle biopsy reporting (CDE-R). This form was used to analyze a set of 49 reports from patients with a range of congenital muscle disorders enrolled in the Congenital Muscular Disease International Registry (CMDIR). Using the CDE-R as a checklist, data were extracted from each report and scored to determine the degree to which the report contained the recommended common data elements. Analysis of the data highlighted the lack of consistent reporting of key clinical features from the referring physicians to the pathologist and great variability in the reporting of a range of pertinent positive and negative pathological findings. However, when we used only data extracted to the CDE-R format to characterize these biopsies, we found a >80% concordance between the reported diagnosis and the diagnosis determined by a blinded pathologist, suggesting that the data reformatted to CDE-R can be used to make a diagnosis in most cases. As a result, we propose implementing a combined format for muscle biopsy reporting that consists of the CDE-R checklist elements and a brief narrative comment that interprets the data in support of a final diagnosis. Such a format may assist in more accurately defining and consistently categorizing pertinent positive and negative pathological findings in relation to defined genotypes.