Research

Beyond the Bloodspot

The Washington State newborn screening program participates in studies to help us gain new knowledge about several different disorders in children. Tens of thousands of parents across Washington have agreed to take part to help investigators improve the health of our children.

Washington takes privacy and confidentiality concerns seriously. In accordance with state law, we protect the privacy of newborns and their families and assure that all specimen/information forms submitted for screening are protected from inappropriate use or access. The Washington State Institutional Review Board (IRB) reviews and approves studies. Identifiable information is never released without written parental consent.

Please see our NBS Privacy Policy webpage for more information.

Is it feasible to screen for lysosomal storage disorders?

We are working with the UW to evaluate the feasibility of newborn screening for lysosomal storage disorders (LSD). The disorders being examined include Pompe Disease, the topic of the 2010 film 'Extraordinary Measures' starring Brendan Fraser, Harrison Ford and Keri Russell.

LSDs are inherited disorders caused by the malfunction of lysosomes, specific structures in the body's cells that are required to break down fats and proteins. Dr. C. Ronald Scott, Director of the PKU and Biochemical Genetics Clinic at UW, discuss the complexities involved in this type of screening in their paper Newborn Screening for Lysosomal Storage Disorders (PDF).