Dawn Laney, MS, CGC, CCRC, assistant professor and director of Emory Genetic Clinical Trials Center, discusses a pilot study designed to assess whether patients at risk for lysosomal storage diseases can be identified using de-identified electronic medical records. Disease-specific scoring systems were developed to score patients as having increased, possible, or no increased risk for Fabry disease, Gaucher disease, late-onset Pompe disease, Niemann-Pick disease type B, mucopolysaccharidosis types I, II, IV, VI, VII, and Farber disease. The results suggest that severity scoring systems may be useful screening tools to inform identification of patients at risk for lysosomal storage diseases.