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

Abstract

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’ 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.

Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

“…Given the extreme rarity of these disorders, many conditions added to the NBS have limited data on long-term outcomes and efficacy of treatment and would be nearly impossible for individual states to determine. Collaboration between states and nations to track both short-term and long-term outcomes is critical for better understanding these disorders [ 33 , 34 ]. Successful long-term follow-up initiatives require coordinated efforts from multiple groups—including federal agencies, state health departments, academic institutions, primary care providers, and family support organizations [ 33 , 35 ].…”

Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

“…35 Despite this recognition, state NBS programs still face ongoing challenges about how to collect LTFU data to demonstrate that NBS makes a difference, and how to maximize health outcomes for children identified through this important public health program. 12 Despite these challenges, if NBS is able to achieve its goals, systematic LTFU strategies will be required and this will ultimately help define the success of NBS. 36…”

“…Hinton and colleagues also addressed health-care utilization and health outcomes for selected metabolic conditions 11 in 2014 and LTFU data as a framework to assess outcomes and "the promise of newborn screening" in 2016. 12 This paper expands on the 3-year follow-up data collected by California and three other states as described in the 2014 Hinton et al 11 publication. Using a 5-year cohort of California newborns diagnosed through NBS with metabolic conditions designated as primary disorders on the Recommended Uniform Screening Panel (RUSP), 13 we provide comparable estimates of LTFU status by individual disorders.…”

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

“…Language and publication year filters were applied to these searches to screen out non-English language studies, for practical reasons, and studies published before 1990 as the approach to diagnosing and managing these diseases has changed over time. We further searched the MEDLINE and EMBASE databases for publications focusing on long-term follow-up initiatives for the evaluation of newborn screening programs, as MCAD deficiency and PKU are among the most common targets of such programs [19]. Because of the anticipated low sensitivity of the database search for newborn screening evaluation initiatives, we conducted supplemental citation and related articles searches using key articles identified by the study team.…”