Unwinding the Ethical Concerns of Newborn Screening in the Age of Genomic Medicine

Abstract

The thesis begins by examining the history of the newborn screening (NBS) process in the United States and why it is the way it is today. The next section explores why certain genetic conditions, such as Long QT Syndrome (LQTS), do not fulfill requirements for the recommended uniform screening panel (RUSP). Lastly, ethical considerations of expanded NBS in the age of genomic technology are examined by highlighting the principles of autonomy, beneficence, equity, cost-effectiveness, privacy and trust. Overall, the NBS process benefits children by identifying serious rare diseases and intervening early to prevent harm; however, a deeper ethical analysis highlights some of the concerns with expanding mandatory, universal NBS in the age of precision medicine. The focus must be on educating the public and healthcare professionals about the NBS process and using evidence-based protocols for adding new conditions to the panel.