DNA sequencing in newborn screening

Use of genome sequencing as a screening tool for newborn screening has been an area of considerable interest worldwide. Genomic-based screening offers opportunities for identifying many more conditions for which new, transformative treatments are emerging, especially for conditions without biomarkers. The current newborn screening system lacks capacity to meet the demand that is only growing and modernization is needed. But many challenges exist regarding building the infrastructure needed for large-scale implementation of genome sequencing in newborn screening, such as cost, workforce needs, scientific and technical issues, coordination across state programs, privacy issues, ethical and legal concerns, and uncertain federal leadership. Numerous pilot studies and national initiatives both in the U.S. and internationally focused on genome sequencing in newborn screening are contributing data about feasibility, acceptability and health, behavioral and economic outcomes. As this experience and knowledge evolves, the changes to newborn screening practices will likely develop over time. It will be important for advanced practice nurses to participate as members of the community of stakeholders to help shape the evolution of newborn screening which has long been regarded as a major public health success.