Ensuring the Life-Span Benefits of Newborn Screening.

Abstract

Newborn screening is a highly successful public health program that has led to major improvements in outcomes for a variety of conditions otherwise associated with long-term disability and even death.1 In the United States, newborn screening is provided to every newborn, regardless of circumstance, leading to the identification of >13 000 newborns with a significant condition each year.1 Most of these individuals require specialized care over their life span. However, public health involvement in newborn screening typically ends once the condition has been diagnosed. This can lead to gaps in care and impede the ability to collect the data necessary for quality improvement and assess treatment effectiveness. The public health activities in newborn screening include choosing which conditions to screen for, implementing screening and monitoring quality, and ensuring follow-up testing and referrals after positive screen results. After referral for diagnosis, the public health mandate for most states ends, and the responsibility for care rests with pediatricians and other clinicians. Unfortunately, the lifelong management of the rare conditions identified through newborn screening can break down at multiple points, even for conditions that have been included in newborn screening for decades. For example, many children with sickle cell disease do not receive life-saving antibiotic prophylaxis2; the management of children with congenital hypothyroidism may be inconsistent with recommended care, undermining optimal cognitive development3; and adults with phenylketonuria often have limited access to the specialists and medical foods necessary to protect against neurocognitive impairment.4 The complexity of follow-up care has increased with the expansion … Address correspondence to Alex R. Kemper, MD, MPH, MS, Division of Ambulatory Pediatrics, Nationwide Children’s Hospital, 700 Children’s Dr, LAC5411, Columbus, OH 43205-2664. E-mail: alex.kemper{at}nationwidechildrens.org