A framework for assessing outcomes from newborn screening: on the road to measuring its promise

Newborn screening (NBS) is intended to identify congenital conditions prior to the onset of symptoms in order to provide early intervention that leads to improved outcomes. NBS is a public health success, providing reduction in mortality and improved developmental outcomes for screened conditions. However, it is less clear to what extent newborn screening achieves the long-term goals relating to improved health, growth, development and function. We propose a framework for assessing outcomes for the health and well-being of children identified through NBS programs. The framework proposed here, and this manuscript, were approved for publication by the Secretary of Health and Human Services\u27 Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This framework can be applied to each screened condition within the Recommended Uniform Screening Panel (RUSP), recognizing that the data elements and measures will vary by condition. As an example, we applied the framework to sickle cell disease and phenylketonuria (PKU), two diverse conditions with different outcome measures and potential sources of data. Widespread and consistent application of this framework across state NBS and child health systems is envisioned as useful to standardize approaches to assessment of outcomes and for continuous improvement of the NBS and child health systems. SIGNIFICANCE: Successful interventions for newborn screening conditions have been a driving force for public health newborn screening for over fifty years. Organizing interventions and outcome measures into a standard framework to systematically assess outcomes has not yet come into practice. This paper presents a customizable outcomes framework for organizing measures for newborn screening condition-specific health outcomes, and an approach to identifying sources and challenges to populating those measures

Parental Presence at the Bedside of a Child with Suspected Ebola: An Expert Discussion

The Ebola virus disease (Ebola) outbreak in West Africa (2014-2015) prompted domestic planning to address the scenario in which a traveler imports Ebola into the United States. Parental presence at the bedside of a child with suspected or confirmed Ebola emerged as a challenging issue for pediatric health care providers and public health practitioners. At the heart of the issue was the balance of family-centered care and appropriate infection control, which are not easily aligned in the setting of Ebola. In the following dialogue, pediatricians, who participated in discussions about parental presence during the evaluation of pediatric persons under investigation, and a public health ethicist discuss the interplay between family-centered care and appropriate infection control. Reaching a balance between the 2 ideals is difficult and may require the facility and providers to engage in a deliberate conversation to determine how they will handle parental presence for such high-risk scenarios, including Ebola and other high-consequence pathogens, in their institution

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance

Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification of affected newborns across the United States. Screen-positive newborns are identified and referred for confirmatory diagnosis and follow-up. The designation of a clinically significant phenotype precursor to a clinical diagnosis may vary between clinical specialists, resulting in diagnostic variation. Determination of disease burden and birth prevalence of the screened conditions by public health tracking is made challenging by these variations. This report describes the development of a core group of new case definitions, along with implications, plans for their use, and links to the definitions that were developed by panels of clinical experts. These definitions have been developed through an iterative process and are piloted in NBS programs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short- and long-term follow-up of identified newborns at the local, regional, and national levels