Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism
Jan M. Friedman
Abstract
The development and implementation of population-based newborn screening was one of the most successful public health interventions of the twentieth century. Newborn screening is now routinely provided to almost all infants in many jurisdictions and usually includes a number of Mendelian diseases as well as some other treatable conditions of infancy. Genome-wide sequencing of the DNA that can be obtained from a small drop of an infant’s blood would permit the identification of genomic variants that are predictive of thousands of additional genetic diseases and provide the opportunity to treat many more healthy-appearing babies with childhood-onset disorders. Newborn genomic sequencing could also give parents information about genetic variants associated with conditions for which there is currently no treatment, that do not have onset until much later in life, or that only raise concern in relatives of the infant. However, our knowledge of the penetrance, natural history, and variability of most rare genetic diseases is limited, the clinical validity and utility of genomic diagnosis for many of these conditions have not yet been established, and the value of presymptomatic treatment is often unclear. As a consequence, much of the information obtained through newborn genomic screening may be of no benefit to, or could even harm, a baby. Genomic sequencing data might be stored indefinitely in an infant’s electronic health record, a prospect that raises serious ethical, legal, privacy, and social concerns. Implementing universal genomic newborn screening in accordance with widely-accepted public health disease screening criteria would sidestep most the concerns that have been raised.