US recommends expanded newborn screening

18 May 2005

The US Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, an expert panel created by the Department of Health and Human Services (HHS) to develop a list of conditions for screening, has released its recommendations. It was proposed last week that all fifty US states should begin an expanded newborn screening programme to perform blood tests for at least 30 genetic disorders. These disorders all have effective interventions to avoid or improve adverse health outcomes for affected babies, if detected early enough, and can be reliably diagnosed by laboratory tests. Current estimates suggest that around 1000 newborn babies with treatable genetic disorders go undiagnosed in the US each year; it is hoped that expansion of current screening practice will identify these children in time to provide treatment (see Genome News Network report). The report also details an additional 25 conditions for which there is presently a reliable screening test, but no effective therapy; it proposes further expansion of routine newborn screening to include these conditions and urges states to report these test results.

Presently, the provision of newborn screening for genetic disorders in the US varies widely between different states. The recommendations, the result of a three-year study on newborn genetic conditions and screening performed by the American College of Medical Genetics (ACMG) on behalf of HHS, aim to establish parity across the US. However, the federal government cannot enforce the guidelines, and the decision on whether or not to implement them will rest with individual state health departments. Expansion of screening programmes will have associated cost implications, not so much for the tests themselves (which can be performed simultaneously and without additional expense using a technique called tandem mass spectrometry) as for the increased costs of re-testing and follow-up for babies with positive screening results. The situation with respect to fees is also complicated; most patients meet fees themselves but the costs for Medicaid patients are split between the state and federal governments.

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