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.

Current research studies


The Newborn Screening (NBS) Program is collaborating with a team from the Pacific Northwest Research Institute (PNRI) led by Dr. William Hagopian. The project is called CASCADE which stands for Combined Antibody Screening for Celiac and Diabetes Evaluation. The goal of this project is to demonstrate feasibility of detecting Type 1 Diabetes and Celiac Disease through from dried blood spots through population-based screening. The project will target 75,000 samples over a period of 5 years and will be using residual blood from NBS specimen cards to obtain samples for their study after receiving informed consent from families. For both diseases, PNRI performs surveillance by monitoring infants periodically using disease-specific autoantibody tests.  This study was approved by the Washington State Institutional Review Board.


Wilson’s Disease Pilot Study

The Newborn Screening (NBS) Program is collaborating with a company called Key Proteo led by Dr. Sihoun Hahn, a biochemical geneticist at Seattle Children’s Hospital who works closely with the Washington State NBS program. The goal of this study is to demonstrate the feasibility of population-based screening using dried blood spots to detect Wilson disease, X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, and Adenosine Deaminase deficiency. This blinded study will target 50,000 samples and will be using anonymous residual NBS specimens (no personal identifying information). For all diseases, Key Proteo performs a novel, multiplexed proteomic-based assay.  This study was approved by the Washington State Institutional Review Board.