A Vision of the Future of Newborn Screening

Abstract

In 40 years, newborn screening has evolved to become a standard component of preventive public health. Despite its widespread acceptance, efforts need to be made to overcome some significant problems. There is inequity in the conditions for which states screen routinely, and many conditions that could be screened for are not, for economic or logistic reasons. Existing (tandem mass spectrometry) and potential (DNA microarray) technologies could be developed and put in place to correct these existing shortcomings. To do so will require investment in the technologies, combined with public and professional education and provision of a high-quality, accessible system for confirmation of diagnoses, family counseling, initiation of treatment, and the opportunity to participate in research to develop new or improved therapies.www.pediatrics.org/cgi

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

“…2007;Hinman et al 2009;Botkin et al 2009;Alexander and van Dyck 2006). The following statements from a recent report documenting communications within newborn screening programs describe some of the issues: "Most states have individual protocols for the acquisition and analysis of dried bloodspot specimens, dissemination of screening results, and the mechanism of data input and information exchange.…”

“…Should LTFU data collection and evaluation prove too burdensome for inclusion as a routine NDBS function, then perhaps registries with proper privacy protections embedded and follow-up through regional service delivery networks may be an alternative (Alexander and van Dyck 2006). One proposal for a national registry for conditions identifiable through NDBS acknowledged the need for a data collection system on long-term outcomes, using standardized data collection protocols.…”

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

“…[3][4][5][6][7] Advances in knowledge about genetics will magnify this debate, given that new genetic tests could be applicable to the whole population and complement existing prenatal, newborn, and pediatric testing practices aimed at the primary prevention of adult-onset health conditions. [7][8][9][10][11][12][13] The impact of offering genetic testing to children has been subject to considerable discussion among health practitioners, researchers, policy makers, and bioethicists, 6,7,14 -20 although the majority of publications on the topic are not empirical. 18 Many have noted the possibility that genetic test results (e.g., knowledge of increased personal risks) might have a negative impact on children's psychosocial wellbeing 14,19,21,22 as measured by adverse emotional states, altered self-perception, or disrupted social relationships.…”

Health-care providers’ views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders

“…4 In this context, there is increased attention to the additional benefits that might be realized, such as the opportunity to inform individuals, both parents and the infant, about the reproductive risks they may face. 5,6 Historically, 'reproductive benefit' -that is, the benefit of learning reproductive risk information that may support family planning -arose as an outcome secondary to the primary goal of identifying a treatable condition. Yet, recent discourse defending expanded NBS has argued that screening can be justified, at least in part, by secondary benefits, and reproductive benefit specifically.…”

“…Yet, recent discourse defending expanded NBS has argued that screening can be justified, at least in part, by secondary benefits, and reproductive benefit specifically. [5][6][7][8][9] Reproductive benefit can be realized as one of the primary benefits of NBS in several ways. The first is when expanded NBS panels include conditions for which clear evidence of treatment is not established, 4 such that the identification of reproductive risks becomes one of the main assured benefits of screening.…”