The impact of genomics on pediatric research and medicine

Abstract

In this review, we discuss some of the most recent developments in genomics research and their relevance to the field of pediatrics. In particular, we examine 3 major approaches that are being used to identify genetic correlates of disease: genome-wide association studies, copy number variation studies, and next-generation sequencing. In the past few years, these approaches have yielded major insights into the causes and pathophysiology of a wide range of diseases but are also constrained by certain limitations. This review provides an overview of the genomic landscape in complex pediatric disorders and sets the stage for translating new discoveries into clinical practice, the future of genomic medicine.

FIGURE 1

Pathways linked to CD. Wang et al (2010) manually compiled a pathway centered on IL-12 and IL-23 that is important to CD. Only the main proteins in this pathway are shown. For each gene, the most significant P value among SNPs closest to the gene was annotated. Reproduced with the permission of Nature Publishing Group.

FIGURE 2

Signal intensity patterns in 4 members of a simplex autism family. As shown in the Genome Browser (bottom), this CNV region encompasses DCGR6 and PRODH. A horizontal bar represents the region for each individual (light/dark = 3/4 copies). We infer the first child inherits duplications from both parents. Reproduced with the permission of Neuroscientist.

FIGURE 3

Identification of rare variants by progressive filtering. Combining genomic software and manual review identifies 2 variants that cause idiopathic hemolytic anemia. indels, insertions and deletions. Reproduced with the permission of Discovery Medicine.