Document Type


Publication Date



DOI: 10.1542/peds.2015-3731B


Next-generation genome sequencing of children is one of the most promising and most challenging new technologies in pediatrics. On the one hand, it offers the hope that we will be able to diagnose rare conditions that were previously impossible to diagnose, which, in turn, might lead to new treatments. On the other hand, the technology for sequencing presents daunting problems of interpretation. It is problematic to conduct the research necessary to characterize the pathogenicity of those variants at the same time that we are using them to guide the clinical care of children who have complex medical problems. It is difficult to know how parents will deal with predictive genomic information about their children. It is also difficult to know whether genome sequencing will complement or replace more traditional methods of newborn screening. This special supplement to Pediatrics presents some early reports from researchers who are exploring both the technical issues as well as the ethical, legal, and social issues that arise when we perform genomic sequencing on newborns.

Journal Title



137 Suppl 1

First Page


Last Page


MeSH Keywords

Child; Genetic Testing; Humans; Infant, Newborn; Periodicals as Topic; Publishing


Gene Testing