Ethical issues in DNA sequencing in the neonate

Abstract

With the recognition of genetic disorders in the newborn, there is the potential to offer new lifesaving therapies. For other conditions such as hypothyroidism in Down syndrome or hypercalemia in the 22q11 microdeltion syndrome, the early identification of an untreatable condition permits prompt screening for potential comorbid conditions. DNA testing for disorders and DNA-based screening are rapidly evolving. With new more powerful tests, there is an increasing ability to see into a potential future and change the outcome for newborns. However, there remain significant ethical and structural issues to be considered before routine implementation of DNA testing.

Keywords: Newborn screening; Severe combined immunodeficiency polymerase chain reaction; Whole genome sequencing.