Among the first of its kind with a pediatric focus, the Genomic Medicine Center at Children's Mercy provides clinical genomic services and is an epicenter for genomic research. Although the Center focuses on sequencing and analyzing rare inherited diseases in children, expansion plans are underway to include translational cancer genomics and research on the use of pharmacogenomics in precision medicine.
Genomic Answers for Kids (GA4K) is changing the landscape of pediatric genomics through what may be the most advanced system for rare disease diagnosis in the world. The team has surpassed 1,000 rare diagnoses through their groundbreaking work—far out-pacing other rare disease research programs—and continue to conduct cutting-edge science that has led to a number of “firsts” in the field of genomics research.
GA4K has produced more than 1,000 genomes through a state-of-the-art technique called HiFi sequencing that allows them to see more of the human genome than other techniques; is the first to use 5-base sequencing in their genomic analyses, accelerating answers for kids with rare diseases through the sequencing of the full genome; and is the first to apply “human assembly” to their rare disease genomics work, building hundreds of genomes from scratch to capture the DNA that is missed by the human genome developed in 2014.
An experienced team in genome analysis
The Center's staff includes physicians, PhD-level scientists, nurses and clinical laboratory scientists experienced in genome analysis. The team features board-certified clinical molecular geneticists, genetic counselors, bioinformaticians and software engineers. The Center works closely with the Bioethics Center and collaborate with physicians representing every subspecialty at Children's Mercy.