What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children

Cynthia F. Hinton, Lisa Feuchtbaum, Christopher A. Kus, Alex R. Kemper, Susan A. Berry, Jill Levy-Fisch, Julie Luedtke, Celia Kaye, Coleen A. Boyle

Research output: Contribution to journalReview articlepeer-review

29 Scopus citations

Abstract

The US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children provides guidance on reducing the morbidity and mortality associated with heritable disorders detectable through newborn screening. Efforts to systematically evaluate health outcomes, beyond long-term survival, with a few exceptions, are just beginning. To facilitate these nascent efforts, the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children initiated a project to define the major overarching questions to be answered to assure that newborn screening is meeting its goal of achieving the best quality outcome for the affected children and their families. The questions identified follow the central components of long-term follow-up-care coordination, evidence-based treatment, continuous quality improvement, and new knowledge discovery-and are framed from the perspectives of the state and nation, primary and specialty healthcare providers, and the impacted families. These overarching questions should be used to guide the development of long-term follow-up data systems, quality health indicators, and specific data elements for evaluating the newborn screening system.

Original languageEnglish (US)
Pages (from-to)861-865
Number of pages5
JournalGenetics in Medicine
Volume13
Issue number10
DOIs
StatePublished - Oct 2011

Bibliographical note

Funding Information:
The authors extend their appreciation for the thoughtful comments offered by the members of the SACHDNC Follow-Up and Treatment Subcommittee, Round Table participants at the Association of Public Health Laboratories' 2010 Newborn Screening & Genetic Testing Symposium, members of the National Coordinating Center/Regional Collaborative Long-term-Follow-Up Workgroup, and Newborn Screening and Translational Research Network Clinical Centers Workgroup. The workshop was supported in part by the Health Resources and Services Administration, Maternal and Child Health Bureau.

Funding Information:
This document presents broad questions and important issues for consideration when LTFU is assessed to determine whether it is meeting the goal of achieving the best possible outcomes for affected children and families. Several LTFU data pilot projects are ongoing, funded by the National Institutes of Health, the Centers for Disease Control and Prevention (CDC), and Health Resources and Services Administration. 18 , 19 These LTFU projects aim to address new knowledge discovery, public health surveillance, and service assurance. The promise of NBS is that it saves lives and improves health. Agencies examining that assertion can encourage uniform data collection to address these overarching questions. By adoption of data sets that address these considerations, our nation can achieve the promise anticipated by initiation of NBS efforts. These questions provide the means for initiating comprehensive, uniform data collection to assess that promise.

Keywords

  • data collection
  • health outcomes
  • long-term-follow-up
  • newborn screening
  • quality assurance

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