Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, describes a pilot study to determine if patients at risk for any of 10 lysosomal storage diseases can be identified from de-identified electronic medical records. Data from this study was recently presented at WORLDSymposium 2022.
As Ms. Laney explains, the study was inspired by a similar study attempting to specifically identify patients at-risk for late-onset Pompe disease using ICD-9 codes. In this study, disease-specific scoring systems were created to score individual patients as increased, possible, or no increased risk for 10 lysosomal storage disease (Fabry disease, Gaucher disease, late-onset Pompe disease, Niemann-Pick disease type B, mucopolysaccharidosis types I, II, IV, VI, VII, and Farber disease). The system was initially validated using published cases and anonymous patient data sets as positive controls. Phenocopies for each individual lysosomal storage disease were used as negative controls.
Following validation, test runs of the scoring systems were conducted on de-identified electronic health records of 175,543 real-world patients. The screening algorithms were found to have high sensitivities in finding positive controls as well as high specificities against the control groups. These results suggest that development, validation, and implementation of severity scoring systems such as highlighted can be useful screening tools to aid providers in identifying patients at risk for lysosomal storage diseases.
For more information about Pompe disease and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/