Health and Economic Outcomes for Newborn Screening

Faculty Contact: Lisa A. Prosser, PhD

Background:
Recent enhancements in screening technology have allowed for newborn screening for many additional disorders with little increase in testing cost. At the same time, there is little information on long-term outcomes for conditions that can be detected by newborn screening. Several conditions have been nominated but not recommended for uniform screening, by The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, primarily due to a lack of evidence. It is challenging or often impossible to conduct traditional clinical trials due to technical and ethical challenges.

Objectives:
The overall goals of this project are to provide information on long-term health and economic outcomes for conditions that can be detected by newborn screening and to provide data on public values for screening programs. The findings from this study can be used to inform policy decisions for candidate conditions.

Research Topics & Methods:
This research project will use computer modeling to simulate clinical trials of newborn screening programs compared to no screening (clinical identification). By combining information from systematic reviews, published and unpublished data, and expert opinion, we will project long-term health and economic outcomes for conditions that can be detected by newborn screening. This research study will also conduct a survey of public values for newborn screening programs. The project team will include investigators from a wide range of disciplines who have substantial expertise in evidence synthesis and policy analysis of newborn screening programs as well as clinical expertise. A Stakeholder Advisory Committee, whose members represent the many relevant viewpoints when considering the expansion of newborn screening programs, will provide input on research directions to insure policy relevance and provide recommendations for disseminating research findings.

Specific Aims:

  1. To project health and economic outcomes for 2 conditions that have been nominated, but not recommended, for inclusion in a recommended uniform newborn screening panel (Krabbe and Pompe diseases).
  2. To re-evaluate the cost-effectiveness of newborn screening for phenylketonuria (PKU), the first condition recommended for universal newborn screening, incorporating new primary data on long-term clinical and economic outcomes.
  3. To understand public and patient/parent preferences for newborn screening.

Funded by the Agency for Healthcare Research and Quality

For more information, please contact:
Lisa A. Prosser, PhD
University of Michigan Child Health Evaluation and Research (CHEAR) Unit
Division of General Pediatrics
300 North Ingalls, Rm 6A14
Ann Arbor, MI 48109-5456
Telephone: (734) 232-1077 Fax: (734) 936-0941
Email: lisapros[at]med.umich[dot]edu