Long-term Impact and Value of Infant Genomic Sequencing (LIVING)

The use of genomic sequencing at birth has generated great enthusiasm. Genomic sequencing can not only identify newborns with existing genetic disorders, but can also identify predispositions for future disease that could be prevented or mitigated through early intervention. In addition, genomic sequencing can help clinicians manage their patients’ medications by characterizing genes associated with drug metabolism and modifying medication choices accordingly. These applications and more have raised hopes that genomic sequencing could complement traditional newborn screening and provide ongoing benefits to individuals and families. However, great uncertainties exist about how genomic sequencing programs should be implemented, and whether long-term benefits for children and families are actually realized, as well as how laboratories should reanalyze genomic information over time. This study addresses these uncertainties with a goal of providing critically-needed evidence about to help ensure newborn genomic sequencing fulfills its promise as a tool that provides lifelong benefits.