Whole Genome Sequencing in Era of Newborn Screening

Abstract

After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining challenges include reimbursement, access to testing and trained genetics professionals, and overall healthcare costs. Despite these challenges, potential role of genomic sequencing being incorporated into newborn screening due to its diagnostic yield and clinical utility seems plausible. This article reviews whole exome and whole genome sequencing use within neonatal and pediatric settings and provides a perspective for the future potential of whole genomic sequencing in newborn screening in the United States.