Clinical pathology selected abstracts
October 2025—Whole genome sequencing is being evaluated in newborn screening to increase the diagnosis and treatment of rare clinical conditions. Such screening raises ethical questions about which results to report and the impact of those results on parents and their children. It is important to focus on societal norms when designing whole genome sequencing–newborn screening (WGS-NBS) to make sure people accept the testing and minimize patient harm. Although parents value the fact that WGS-NBS can lead to early diagnosis and treatment of various conditions, they recognize that results may cause psychological distress, eliminate children’s autonomy, raise data-storage and privacy concerns, and lead to uncertainty regarding adult-onset medical conditions. The public, in general, supports WGS-NBS for clinically actionable childhood-onset conditions, with the caveats that health professionals are trained to interpret such results and genetic counseling is available.