title: Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.
abstract: Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant's genome relatively quickly and economically. Clinical application of whole-exome and whole-genome sequencing is expanding at a rapid pace but presents many challenges. Its utility in NBS has yet to be demonstrated and its application in the pediatric population requires examination, not only for potential clinical benefits, but also for the unique ethical challenges it presents.
authors.affiliation: Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7264.
authors.forename: Jonathan S
authors.initials: JS
authors.lastname: Berg
authors.affiliation: Departments of Pediatrics and Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7264.
authors.forename: Cynthia M
authors.initials: CM
authors.lastname: Powell
mesh_terms: D059472:Exome; D005820:Genetic Testing / Q000941:ethics / Q000379:methods; D023281:Genomics / Q000379:methods*; D034381:Hearing Loss / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000941:ethics / Q000379:methods*; D014481:United States