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Pediatric Genomic Medicine
Pediatric Genomic Medicine

The Center for Pediatric Genomic Medicine at Children's Mercy was established in 2011. Among the first of its kind with a pediatric focus, the center provides clinical genomic services and is an epicenter for genomic research. Although our focus is sequencing and analysis of rare inherited diseases in children, plans are underway for expansion into a translational cancer genomics program and the use of pharmacogenomics in precision medicine.

Genomic Medicine Staff

Our staff includes MDs, PhDs, RNs and clinical laboratory scientists experienced in genome analysis. Team members feature board-certified clinical molecular geneticists, genetic counselors, bioinformaticians and software engineers. We work closely with the Center for Bioethics and collaborate with physicians representing every subspecialty at Children's Mercy. 
Meet our team »

Clinical Services

The Center has developed clinical tests for next-generation medical treatments designed to improve outcomes in patients at Children's Mercy and around the world. Learn more about whole genome sequencing (WGS) and exome sequencing.

Research Services

Children's Mercy is dedicated to becoming a leader in pediatric translational research — studies that translate medical research into better ways of treating sick kids. This commitment is leading to new breakthroughs in treating, diagnosing and preventing complex childhood diseases, which, in turn, transforms lives of kids in our community and around the world.

The Center performs genomic tests for internal and external investigators. The laboratory started a research project in early 2016 taking a broader "integrated genomics" approach to understanding what's going on in difficult to understand diseases. Integrated genomics is an approach which combines numerous next-generation sequencing methods to understand the underlying biology of a given sample. Integrated genomics allows deeper investigation into the relationship between DNA and inherited diseases. Methylation studies tell a story at the molecular level. While many rare diseases are not methylation-related, methylation might play a role in the biological processes behind some rare conditions. We are also examining expressed RNA to provide clues on what cells in the body are involved, as well as disease progression and severity. Combining whole-genome sequence data with these additional data may provide more opportunities for physicians to take care of sick children.

The different types of sequencing, testing and specimen options which are offered by the Genome Center may be viewed here. If interested in collaborating with the Center, please complete a complete a questionnaire. The questionnaire will allow our team to evaluate the proposal and our ability to provide assistance.

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