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Newborn screening (NBS) first started in the 1960s to test for phenylketonuria. Since that time, NBS has expanded to become one of the most successful public health initiatives, preventing disability and death not only from metabolic disorders, but also from endocrine disorders, hematologic disorders, immune disorders, cardiac disorders, and pulmonary disorders. Early NBS was dictated by the principles of early disease detection as described by Wilson and Jungner.1 These principles focus on screening for disorders with accepted and readily available treatment, and testing that is acceptable to the population and economical. NBS continues to expand with newer technology in the hope of early treatment and intervention for many more pediatric conditions. DNA-based NBS programs will likely be available soon with technology to obtain DNA from the dried blood spot (DBS), as well as lower cost of genetic testing. As NBS expands into DNA-based technologies, more physicians and patients will need to be educated on the risks and benefits, considering the ethics and implications of genetic testing and diagnosis in the newborn period.
Current Screening
NBS in the United States is dictated by the policies of individual states, so there is a lack of uniformity in testing for disorders at birth around the country. The US Department of Health and Human Services and the American College of Medical Genetics and Genomics (ACMG) recommended conditions for which screening should be mandated. Currently, the recommended uniform screening panel (RUSP) recommends screening for 34 core disorders and 26 secondary disorders.2,3 The majority of the testing is done with the DBS sample; however, screening for critical congenital heart disease and hearing loss occurs as point-of-care testing at the bedside in the newborn nursery. Despite standardized recommendations, individual states ultimately determine what disorders will be screened for so there continues to be variation in testing across the US. More conditions are nominated for consideration as an addition to the RUSP as the preventive health benefits of early diagnosis and treatment become clear. With each new condition nominated to the RUSP, the advisory committee systematically and carefully considers each proposed condition's natural history, testing options allowing short-term follow-up and confirmation, and opportunities for long-term follow-up and treatment. Within the last 10 years, there have been substantial updates to NBS as the list...