Newborn Screening through Genome Sequencing: An ELSI Perspective
2023 Advances in Precision Medicine Seminar Series
Expanding Newborn Screening through Genome Sequencing: An ELSI Perspective
Kyle Brothers, MD, PhD
Chief Scientific Officer Norton Children’s Research Institute (NCRI)
Affiliated with the University of Louisville School of Medicine
Professor of Pediatrics
Endowed Chair of Pediatric Clinical & Translational Research
Chief, Division of Pediatric Clinical & Translational Research
University of Louisville School of Medicine
Genome sequencing has transformed diagnosis and treatment in a variety of domains, including pediatric rare disease and precision therapy in cancer. For decades, however, scientists and clinicians have dreamed of a day when genome sequencing might transform preventive care for presymptomatic individuals as well. Research programs across the country are currently examining the potential utility of genome sequencing in pre-symptomatic screening of newborns. This strategy, conducted either as a part of traditional newborn screening or as a separate step in early infancy, offers remarkable promise to make diagnoses and initiate treatment before irreversible symptoms have developed. It is also perhaps the most ethically complex of all proposed applications for genome sequencing technologies. In this Precision Medicine Seminar, Dr. Kyle Brothers, a pediatrician and bioethicist, will discuss the critical ethical challenges raised by this emerging innovation in newborn screening, with a particular focus on research approaches that can be used to anticipate and address these ethical challenges.
Zoom and In-person: 622 West 168th St. PH10-204
Zoom registration below
This event is co-sponsored by the Center for Research on the Ethical, Legal & Social Implications of Psychiatric, Neurologic and Behavioral Genetics, and the Precision Medicine Resource of the Irving Institute for Clinical and Translational Research.
This event is supported in part by a gift from Pfizer to Columbia.