By Maya Sabatello and Paul S. Appelbaum

Whole genome and exome sequencing (WGS/WES) techniques raise hope for a new scale of prediction, prevention, and diagnosis of genetic conditions, and improved care for children. Although still in its early stages, the increased investment in pediatric genomic research, the rapid progress in powerful data analysis technologies, and the plummeting costs associated with DNA sequencing are promising indicators of future introduction of WGS/WES into routine clinical practice. However, the use of WGS/WES in pediatric research settings raises considerable challenges for families, researchers, and policy makers. In particular, the possibility that these techniques will generate genetic findings of medical and nonmedical relevance unrelated to the primary goal of sequencing has stirred intense debate about whether, which, how, and when these secondary or incidental findings (SFs) should be returned to parents and minors.

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Sabatello, M. and Appelbaum, P. Raising Genomic Citizens.pdf