Racial Disparities in Emergency Department Mortality and Departure Status among Trauma Patients in Massachusetts

Background: Understanding racial inequities in emergency medical care for traumatic injuries is important to policy considerations. Methods: We analyzed data on the first emergency department (ED) visit for trauma treatment among patients in the Massachusetts (MA) Statewide Trauma Registry. This Registry collects information on all trauma patients who die in the ED, or are dead on arrival, or who are transferred between hospitals in MA. This analysis included ED visits among MA residents aged 15 years and older from 2008 through 2010. Those who died on arrival were excluded. Patients were grouped as non-Hispanic white, non-Hispanic black, Hispanic, Asian, and other or unknown races. We compared injury severity, departure status and ED mortality among the 5 groups while adjusting for severity, sex and age. Results: The 27,453 patients averaged 57.3 years of age, and included 44.9% women, 83.4% whites, 5.4% blacks, 6.8% Hispanics, 1.3% Asians, and 3.1% other or unknown races. In total, 534 (1.95%) died in ED. There was no clinically significant difference in injury severity among race groups. Compared to whites, blacks and other race group had higher mortality (OR=1.62, p=0.006 and OR=2.30, p Conclusions: Substantial racial disparities in ED mortality and departure status were observed among MA trauma patients. Determinants of the disparities are under investigation in an ongoing study funded by the National Institute on Minority Health and Health Disparities

Next-generation carrier screening

Purpose: Carrier screening for recessive Mendelian disorders traditionally employs focused genotyping to interrogate limited sets of mutations most prevalent in specific ethnic groups. We sought to develop a next-generation DNA sequencing–based workflow to enable analysis of a more comprehensive set of disease-causing mutations. Methods: We utilized molecular inversion probes to capture the protein-coding regions of 15 genes from genomic DNA isolated from whole blood and sequenced those regions using the Illumina HiSeq 2000 (Illumina, San Diego, CA). To assess the quality of the resulting data, we measured both the fraction of the targeted region yielding high-quality genotype calls, and the sensitivity and specificity of those calls by comparison with conventional Sanger sequencing across hundreds of samples. Finally, to improve the overall accuracy for detecting insertions and deletions, we introduce a novel assembly-based approach that substantially increases sensitivity without reducing specificity. Results: We generated high-quality sequence for at least 99.8% of targeted base pairs in samples derived from blood and achieved high concordance with Sanger sequencing (sensitivity >99.9%, specificity >99.999%). Our novel algorithm is capable of detecting insertions and deletions inaccessible by current methods. Conclusion: Our next-generation DNA sequencing–based approach yields the accuracy and completeness necessary for a carrier screening test