Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice

Abstract

Whole-genome sequencing (WGS) has advanced to a point where it is beginning to be integrated into pediatric practice. With little consensus on how to maximize the benefits of WGS for children, there is a growing need for focused efforts that connect researchers, clinicians, and families to chart a path forward. To illustrate relevant concerns, two contrasting applications of pediatric WGS are explored: clinical use with children who have undiagnosed conditions, and population-based screening. Specific challenges for health care services, policy development, and the well-being of children are discussed in light of current research. In the interest of ensuring evidence-based pediatric WGS, strategies are identified for advancing our understanding of what it means for children to grow up with WGS results guiding their health care.

Figure 1. Outline of possible delivery methods for (a) problem-based and (b) population-based pediatric whole genome sequencing (P-WGS)

Shaded boxes indicate stages that differ between the two approaches. Dashed arrows indicate paths that may be contingent on results, changes in genomic risk information, or child age.

Figure 2. Related areas in need of development to create a strategic approach for implementing pediatric whole-genome sequencing (P-WGS)