Delay in State Adoption of Newborn Screening Tests.

Abstract

* Abbreviations: CCHD — : critical congenital heart disease MPS I — : mucopolysaccharidosis I RUSP — : Recommended Uniform Screening Panel SACHDNC — : Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children SCID — : severe combined immunodeficiency Newborn screening is a critical public health intervention. Every year, thousands of newborns are diagnosed with a disease via newborn screening; this allows for timely treatment that decreases morbidity and mortality and generates considerable health care savings. In 2005, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) proposed the Recommended Uniform Screening Panel (RUSP), consisting then of 29 core conditions to adopt as the national newborn screening standard. The RUSP’s core conditions and any future additions had to meet 3 inclusion criteria: the disorder must be detectable within 48 hours of birth, the screening test must be sensitive and specific, and early detection must enable early treatment to secure proven benefit.1 Adding a condition to the RUSP is a rigorous, multistep process. Petitioners must write a report to the SACHDNC, presenting an overview of the condition, treatment efficacy and availability, validation of a laboratory test with available follow-up confirmatory testing, and a prospective population pilot study. Meeting these criteria can prove challenging. For example, the addition of mucopolysaccharidosis I (MPS I) and adrenoleukodystrophy were delayed because both diseases have a relatively unaffected carrier population, raising concern as to whether screening would pick up carrier patients. The SACHDNC then makes recommendations to the Secretary on the basis of an independent external evaluation regarding both inclusion criteria and feasibility. States are not legally bound by the … Address correspondence to Stephanie R. Morain, MPH, PhD, Center for Medical Ethics and Health Policy, Baylor College of Medicine, 1 Baylor Plaza, Suite 310D, Houston, TX 77030. E-mail: stephanie.morain{at}bcm.edu