Every Newborn, Every State: Funding to End Variability in Newborn Screening RUSP Implementation

Started in the 1960’s, newborn screening is widely regarded as one of the most successful public health initiatives. Thanks to these state-run programs, each of the nearly 3.6 million babies born in the U.S. is screened for certain serious and rare conditions at birth, allowing for early treatment of disease before the onset of preventable death or disability. The United States Department of Health and Human Services (HHS) maintains a comprehensive list of core and secondary conditions, referred to as the Recommended Uniform Screening Panel (RUSP), which serves as a guideline for state newborn screening panels. There are currently 40 core conditions, and 26 secondary conditions listed on the RUSP. Early detection and treatment of these conditions can greatly improve quality of life and reduce direct medical costs while also averting indirect costs (e.g., work productivity losses for caretakers).

The objective of this  is to estimate the cost of implementing newborn screening for conditions added to the RUSP in the last 10 years in the states that have not yet begun screening for such conditions.The recently added conditions are: Pompe, X-ALD, MPS I, MPS II, GAMT, Infantile Krabbe Disease, DMD and MLD. As part of the analysis, we also estimate the costs of two additional conditions that may be added to the RUSP in the next three to five years. This paper focuses on our existing newborn screening system, which is largely dried blood spot (DBS)-based biochemical testing with occasional additional confirmatory testing but does not address the feasibility or necessity of system modernization by wholesale incorporation of genetic sequencing tests, such as whole genome sequencing or targeted gene panel sequencing tests.

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