Ethical and programatic challenges of genomic newborn screening

For over half a century, state Newborn Screening (NBS) Programs have tested millions of children annually to identify medical conditions that, if untreated, result in severe physical, mental, or developmental harms. Recently there have been a number of discussions concerning the use of genomic sequencing technology within NBS programs. While use of genomic sequencing may expand the range of testing for pediatric disorders, the implementation of these technologies may have a number of undesirable effects that threaten the moral foundation and core mission of one the nation's most successful public health initiatives. This paper will explore a number of ethical and programmatic concerns raised by the use of genomic sequencing within newborn screening programs, including the ability of programs to interpret and communicate large amounts of genomic data to individuals and families. These concerns have the potential to overwhelm health departments, as program directors struggle to decide what information should be disclosed to parents and how to assure adequate education and counseling. This presentation will also report on findings from a recent study that assessed parents' interest in sequencing of newborns as part of a state newborn screening program. This study also explored what factors might influence parents interest, such as accuracy of the testing or privacy of the results. Lastly, I will discuss the need for ongoing dialogue between public health programs, genome scientists, primary care providers, and parents to assess where, and how, these technologies could be used appropriately within public health programs in the future.