Committee Report

Abstract

Many rare genetic, congenital, and functional disorders in neonates can be identified by newborn screening (NBS). Among the most successful of public health programs, NBS ensures early management and appropriate follow-up for affected infants. Each state has the responsibility to develop and implement policies in their NBS programs, and there is considerable variation among states policies. In 1996, the first report was published providing guidance for the retention, storage, and use of residual NBS specimens. Although significant improvements occurred in individual state policies for NBS as a result of this report, several important issues have not been addressed.<br><br>Standard uses of residual specimens include ensuring that a specimen was collected, received, and properly analyzed, with quality assurance, program evaluation, verification of test efficacy, and test refinement. Other, nonstandard use of residual specimens includes medical research. Benefits of such uses of these samples include the capability to generate population-based knowledge about the risk of certain inherited conditions in family members, provide support for families, as well as advance science and improve critical care of newborns and children. Two distinct practices are generally used in state NBS programs regarding the storage and use of residual NBS specimens:(1) short-term storage (<3 years), primarily for standard uses and (2) long-term storage (>18 years), for standard as well as nonstandard uses.<br><br>Minimal public awareness about the purpose of storage and use of residual NBS blood specimens has resulted in significant concern about the storage of residual NBS specimens for its standard primary purpose as well as potential nonstandard secondary applications. State practices for NBS specimen storage should secure the specimens, protect the privacy of the newborns and their families, and ensure public trust. There are different or no policies in state NBS programs on the need for explicit consent of parents for the nonstandard use of residual dried blood specimens. In the absence of a well-defined policy, there is uncertainty over legal ownership of residual blood specimens, and issues related to nonstandard use of retained specimens are not adequately addressed.<br><br>SACHDNC (Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children) prepared this report to address these issues. The primary objectives of the SACHDNC report were to define all the pertinent issues regarding storage and use of residual specimens and provide recommendations that could be the basis for developing national guidance to states in this area.