Screen for Lysosomal Storage Diseases, Save More Nevada Babies

Abstract

Screen for Lysosomal Storage Diseases, Save More Nevada Babies Kim Thu Nguyen, OMS-II, knguyen38@student.touro.edu, Nguyen Nguyen, OMS-II, nnguyen20@student.touro.edu Weldon Havins, MD, JD, LLM, FCLM, Professor Emeritus Touro University Nevada College of Osteopathic Medicine, Henderson, NV. Introduction In the US, the Recommended Uniform Screening Panel (RUSP) currently endorses 29 disorders for which newborns should be screened, given evidence of the benefits of early detection. With increasing knowledge of disease progression, new and improved treatment options, and development of efficient screening tests, the screening of newborns for lysosomal storage disorders (LSD) has been quickly gaining momentum in the last decade. In 2019, Nevada passed Senate Bill 291, mandating the screening of all conditions in the RUSP, including Pompe disease and mucopolysaccharidosis I (MPS I). Currently, improved screening technology can measure enzymatic activities for several LSDs in a single analysis, allowing for the conservation of labor, equipment, samples, and reagents. The aim of this study is to evaluate the feasibility and cost-effectiveness of adding Fabry and Gaucher disease to Nevada’s newborn screening panel once screening for Pompe disease and MPS I has been established. Methods We performed a systematic review of literature to identify evidence on the natural history of Fabry and GD, as well as availability and effectiveness of treatment options and screening tests. We also compiled a list of costs associated with common clinical manifestations of Fabry and GD that commonly occur prior to diagnosis without an early detection program. We then compared these costs to the estimated costs of screening. Results We have estimated that the cost of adding on the screening of these two LSDs, once screening for Pompe and MPS I is established, will cost approximately $89,205 per year. The estimated costs of management of Fabry and GD in the absence of early detection and treatment are shown below: 2021 American College of Legal Medicine JOURNAL OF LEGAL MEDICINE 2021, VOL. 41, NO. S1, 29–30 https://doi.org/10.1080/01947648.2021.1914482