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APHA Scientific Session and Event Listing

Catharine Riley, MPH, Institute for Public Health Genetics, University of Washington, University of Washington, Box 357236, Seattle, WA 98195, 206-616-4979, rileyc@u.washington.edu, Wylie Burke, MD, PhD, Medical History and Ethics, University of Washington, University of Washington, Box 357120, Seattle, WA 98195-7120, and Carolyn Watts, PhD, Department of Health Services, University of Washington, Box 357660, Seattle, WA 98195.

Newborn screening (NBS) is a publicly mandated, population-based screening program most commonly run out of state health departments. Due to the structure of newborn screening, each state has its own protocol for processing newborn screening samples, uses different mechanisms for relaying results, and conducts a varied range of follow-up services. The processes in place to follow-up on abnormal NBS results, in particular, are important in minimizing the potential impact on the public health and healthcare systems, and affected infants and their family. Many states currently have sophisticated methods in place to minimize the overall impact of abnormal test results that, once followed up on, are deemed normal. However, there are limited data on the actual and perceived impact of this type of NBS result, limited data on the spectrum of what some have termed “false positives”. There are varied definitions of a “false positive” NBS result and multiple pathways an abnormal NBS may take before being identified as a “false positive”. The purpose of this research is to explore the public health system's perspective on how abnormal NBS results are followed up on and what constitutes a false positive result. More specifically, the study uses a literature review and key informant interviews with leadership from state-run NBS programs to: 1) describe the spectrum of abnormal test results in NBS, 2) identify programmatic factors that are important in the identification and processing of abnormal NBS results, and 3) describe the varied programmatic response to abnormal NBS results.

Learning Objectives:

• describe the spectrum of abnormal test results in newborn screening
• identify programmatic factors that are important in the identification and processing of abnormal newborn screening results
• describe the varied programmatic response to abnormal newborn screening results, including those that turn out to be false positives, highlighting best practices currently being implemented to mitigate the impact of false positives

Keywords: Genetics, Infant Health

Presenting author's disclosure statement:

Not Answered