. "3 Uses of Residual Newborn Screening Samples in Research." Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research: Workshop Summary. Washington, DC: The National Academies Press, 2010.
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Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research: Workshop Summary
in Massachusetts (Gwinn et al., 1991; Hoff et al., 1988). In the study, the state was divided into nine regions with the residual dried blood spots being identified only by the region where they were collected. All of the blood spots were analyzed simultaneously to determine the seroprevalence of HIV in the nine regions, which ranged from 11.6 percent to 0.3 percent. Thus, by performing research on the dried blood samples collected for the purpose of newborn screening, public health programs in Massachusetts were able to use this information to determine where to locate HIV services for women of childbearing age.
Research to benefit the service of providing improved newborn screening can also lead to a direct public health benefit. One recent study on expanding newborn screening in Massachusetts was aimed at identifying children with severe combined immunodeficiency (SCID). The treatment for SCID is quite effective, so a screen to identify such babies is easily justified. However, the practical issues of instituting such a screen on a population-wide level at the time were unknown. To date, Comeau said, the program has screened more than 75,000 infants for SCID, with less than 1 percent of parents declining to participate. Researchers also retrieved residual dried blood spots from storage after having received consent from the parents of infants who had previously been identified with SCID in order to demonstrate the clinical validity of the screening test. “Without the input from our program to save these [residual] dried blood spots, this would not have happened,” Comeau said. The program provided data to the SACHDNC so that the committee could make evidence-based decisions, and ultimately it helped to add SCID to the national uniform screening panel.
This interplay between service and research is reflected in the several rationales for retaining residual specimens that Comeau cited from the Massachusetts Department of Public Health Policy on the Purpose, Storage, and Use of Specimens Residual to Those Collected for Newborn Screening Services.
These samples provide legal accountability for reconfirmation of newborn screening test results and for the existence of a specimen and its adequate collection.
They allow for continuous improvements in the quality of screening and testing methodologies.
They enable the comparison and validation of new analytical methods.
They provide for research that can advance newborn screening efforts as well as other areas of public health medicine.
They make possible basic research to enhance general medical knowledge.