Approximately 4 million infants are born yearly in the United States (US), and are screened to detect conditions that threaten their life and long-term health. Newborn screening is a public health activity aimed at the early identification of infants who are affected by certain genetic/metabolic/infectious conditions. Early identification of these conditions is particularly crucial, as timely intervention can lead to a significant reduction of morbidity, mortality, and associated disabilities in affected infants.
Newborn screening has been universally accepted for the past 3 decades. It represented the first population-based genetic screening program, and signaled the integration of genetic testing into public health programs. Today, advances in technology are making possible new forms of newborn screening programs, such as newborn hearing screening. These technological advances will continue to have a significant impact on the sensitivity, specificity, and scope of newborn screening programs, including newborn heelstick screening.
Challenges are anticipated with technological advances. It is likely that public pressure to deploy new diagnostic capabilities, such as DNA-based technology, will increase despite limited knowledge of potential risks and benefits. In addition, the ability to detect individuals with conditions for which there is no effective or necessary treatment is likely. Further, as the Human Genome Project is completed, the impetus and opportunity for the transition of genetic technology into practice will increase. These and other challenges will affect not only newborn screening tests, but also the entire newborn screening system, which includes short-term follow-up, diagnosis, treatment/management, and evaluation. Inherent to each of these components is an education process. A national dialogue and process is needed to support state newborn screening systems as they try to keep pace with new technology.
To address these and other issues, a national Task Force on Newborn Screening (Task Force) was convened by the American Academy of Pediatrics (AAP) with …