that the specimens can be re-evaluated if warranted by the initial screening results, extra samples are collected in the form of multiple blood spots on a standardized form. Individual states may store these extra samples for use in the quality control of current tests and the development of new tests. In addition, residual dried blood spots also have many potential uses in public health and biomedical research. (These uses are discussed in Chapter 3.)

Newborn screening programs have been highly successful, said Dr. Anne Comeau, deputy director for the New England Newborn Screening Program and associate professor in the Department of Pediatrics at the University of Massachusetts Medical School. They provide an opportunity for early identification and treatment of infants with conditions that otherwise would go unrecognized prior to irreversible damage. In New England, about 1 in 600 children is found to have one of the conditions being looked for by the screen (Figure 2-1). But newborn screening programs include much more than just a laboratory test, Comeau said. To provide parents with information and get infants into treatment, her program has pre-analytic, analytic, and post-analytic components. Every baby needs to be screened and every affected infant needs to get treatment and follow-up care.

Quality people and quality systems are essential to the success of newborn screening, Comeau said. The people running screening programs need to be well trained and competent. Quality systems need to be in place for the analysis and storage of residual dried blood spots. “It is not just the robotics of running a laboratory test,” she said.

FIGURE 2-1 The number of cases detected (169)/100,000 screened through the New England newborn screening program.

FIGURE 2-1 The number of cases detected (169)/100,000 screened through the New England newborn screening program.

SOURCE: Comeau, 2010.



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