Newborn Screening: Science, Policy, and People
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University of Washington ABSTRACT Newborn Screening: Science, Policy, and People Catharine Riley Chair of the Supervisory Committee: Professor Carolyn Watts Health Services Background: Newborn screening (NBS) is a large-scale, state-mandated screening program designed to screen infants for a set of rare congenital conditions, in order to identify infants that may be at risk for morbidity or mortality, with the intent to improve the health outcome for affected infants. The science behind NBS is critical to its success and data are required to make informed decisions. History has shown that advocacy efforts have also impacted the landscape of NBS policy. It is important to remember that NBS impacts infants and their families. Based on their experiences, parents can inform policy-making at the programmatic, state, and federal level. Purpose: The purpose of this dissertation is to: 1) explore the role of advocacy in changing NBS policy, 2) describe the evidence base for understanding parents' experience with and knowledge ofNBS, and 3) demonstrate policy-making at the programmatic level using a quality assurance data analysis to revise the screening algorithm for congenital hypothyroidism. Methods: The methods used in this dissertation are: 1) a historical analysis, case studies, and the application of the Advocacy Coalition Framework, 2) a structured literature review, and 3) quantitative analysis of NBS data. Results: The ACF provides a suitable framework for understanding NBS policy and the role of advocacy. Forty-two articles on parents and NBS revealed six major discussion topics: 1) parents' experience with NBS, 2) parents' knowledge of NBS, 3) parents' education on NBS, 4) the impact of false positive results, 5) the impact of true positive results, and 6) informed consent. The QA data analysis resulted ina revised stratification scheme that will reduce the number of false positive results by an estimated 35%. Conclusion: It is clear that advocacy was instrumental in initiating NBS and continues to be an important factor in NBS policy. A foundation of knowledge regarding parents and NBS has been established. Future research ought to focus on how information can be translated into public health and clinical practice at the ground level. Using data to determine cutoff stratification schemes that maintain a high sensitivity and specificity is an effective way to inform policy decisions.