Health Relevance

Childhood cancers and structural birth defects have profound, lifelong effects on patients and their families. A risk factor for childhood cancer is being born with a birth defect, suggesting there are shared genetic pathways underlying some types of childhood cancer and structural birth defects. However, there are limited data about shared pathways that may lead to the development of both outcomes. The Kids First Data Resource will allow scientists to identify genetic pathways underlying these conditions and to explore some of these pathways are shared between them. These findings have the potential to improve prognostics and treatment decisions for childhood cancers. Clinical and genetic sequence data obtained through Kids First studies will be accessible to researchers everywhere through the Kids First Data Resource.

In 2015, Kids First selected seven cohorts of children with cancer or structural birth defects for whole genome sequencing. The DNA sequence data along with well-curated clinical phenotype data will be deposited into the forthcoming Kids First Data Resource. Genetic sequence and phenotype data from the Genomic Analysis of Congenital Diaphragmatic Hernia cohort is now publicly available. Learn more about Kids First selected cohorts.