Newborn screening for intellecutal disability

Abstract

Newborn screening began in the 1960s with a condition causing severe intellectual disability, phenylketonuria, a disease that could be remediated through a dietary change that prevented intellectual disability. Since then newborn screening has become a significant public health initiative offered in every birthing hospital in the United States, sometimes for more than 50 conditions. The landscape of newborn screening is changing rapidly, however, as a result of new gene discoveries, technological developments, advocacy efforts, and private market forces. Soon it will be possible to screen for many conditions causing intellectual disability, but for which there will be no immediate medical treatment, evoking issues related to the ethics of disclosing genetic information about “untreatable conditions” and the support systems that would be necessary to help families and children cope with this information. Fundamental questions have been asked about the likelihood of various costs and benefits of early identification, prompting a whole new set of demands for data on the efficacy of earlier psychosocial interventions and the timing of treatments. This chapter reviews the history and current status of newborn screening for intellectual disability, envisions a likely future of possible genetic disclosure, and identifies research questions that will need to be answered to help inform public policy.