Download Newborn Screening: Toward a Uniform Screening Panel and System (PDF - 11.5 MB, 329 pages)
SUMMARY: The changing dynamics of emerging technology, and the complexity of genetics require an assessment of the state of the art in newborn screening and a perspective on the future directions such programs should take.
In 1999, the American Academy of Pediatrics Newborn Screening Task Force recommended that ``HRSA should engage in a national process involving government, professionals, and consumers to advance the recommendations of this Task Force and assist in the development and implementation of nationally recognized newborn screening system standards and policies.''
In response to this need, pursuant to 42 U.S.C. 701(a)(2), the Maternal and Child Health Bureau (MCHB) of HRSA commissioned the American College of Medical Genetics (ACMG) to conduct an analysis of the scientific literature on the effectiveness of newborn screening and gather expert opinion to delineate the best evidence for screening specified conditions and develop recommendations focused on newborn screening, including but not limited to the development of a uniform condition panel. It was expected that the analytical endeavor and subsequent recommendations be based on the best scientific evidence and analysis of that evidence. ACMG was specifically asked to develop recommendations to address:
The ACMG report is a response to the HRSA/MCHB request. The ACMG report, Newborn Screening: Toward a Uniform Screening Panel and System is available here.
In the report, 29 conditions were identified as primary targets or core panel conditions for screening; an additional 25 conditions were listed as conditions that could be identified in the course of screening for core panel conditions. Many of these 25 additional conditions are included in the differential diagnosis of the conditions including in the primary target list. With additional screening, an improvement in the infrastructure for appropriate follow-up and management throughout the lives of children who have been identified as having one of these rare conditions will be needed. A cost analysis for the State of California indicates newborn screening is beneficial to patients and may have some net costs or net savings over time depending on assumptions of expected lifetime costs of medical care.