Analysis Finds Limits in Standardization of Genetic, Genomic Lab Reports

A new analysis underscores the limited standardization of genetic and genomic laboratory testing reports in the US. In the Journal of Molecular Diagnostics, a University of Utah and ARUP Laboratories-led team examined 95 test reports describing 113 assay results from 56 patients within the Connect Myeloid Disease Registry. In their pilot study, which was supported by Celgene, the team found that 89 percent of the assay results described the sequencing technology used and 84 percent described the limits of detection. However, the researchers note many labs did not fully describe those limits or their methods. The team further found that 18 reports from one CAP/CLIA certified lab did not give RNA transcript identifiers and that some labs, even ones that gave transcript identifiers, used nonstandard names. This, the researchers say, say could make it difficult to definitively identify the variant and could affect patient care. "This pilot study demonstrated that limitations in the accuracy, transparency, and consistency of genetic and genomic laboratory reports make the standardization, collation, analysis, and interpretation of high-quality data across laboratories and providers impossible," the researchers write.