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The Genomic Medicine Center 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.

An experienced team in genome analysis

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 Bioethics Center and collaborate with physicians representing every subspecialty at Children's Mercy.

Genomic 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 questionnaire. The questionnaire will allow our team to evaluate the proposal and our ability to provide assistance.

Software Tools

The Center for Pediatric Genomic Medicine has developed novel software for genome sequence analysis. The software is free for academic, research use. To download the software, visit the genome software portal. For all other uses, please email for license information.

Astrolabe is software for the translation of whole genome sequence data into pharmacogenetic information that can be used to guide medication selection, dosing and prescription. Clinicians and researchers can use this information to reduce adverse drug events and maximize medication efficacy.

The Children's Mercy variant characterization pipeline (RUNES: Rapid Understanding of Nucleotide variant Effect Software) is a multi-stage analysis pipeline for annotating and classifying human nucleotide variation detected through short read alignment. The long-term plan for the pipeline is to continually add characterizations and variant types as new tools/capabilities appear.

Variant classification is the final stage of variant characterization. Classification includes assigning an interpretive category representing clinical significance to each variant.

Clinical Services

We offer WGS clinically to identify disease-causing and likely disease-causing variants. WGS may find variants in on-coding regions which are not covered by exome sequencing.

Many aspects of our research initiatives involve collaborating with other top-notch research institutions. Our collective goal is to develop new methods for better genome studies.

The Children's Mercy Genome Center began offering exome sequencing in March 2016. We implemented clinical exomes with the goal to identify genetic variations responsible for diseases without the higher costs associated with whole-genome sequencing.

The Center for Pediatric Genomic Medicine works with many teams at Children's Mercy to provide faster diagnosis for a broad range of medical conditions. Our goal is to provide genomic analysis to support medical teams in providing the best possible care for pediatric patients.


The Center's capital equipment and software tools provide support for our achieving and maintaining CLIA certification and CAP accreditation. Our collection of sequencers and robots allows us to process over 2 Tb of data per week.


Genomic Medicine: Dalton's Story

Diagnosed with a rare, life-threatening syndrome called Brown-Vialetto-Van Laere syndrome, or BVVL, Dalton is treated at Children’s Mercy by a team of specialists including Jean-Baptiste Le Pichon, MD, PhD, pediatric neurologist. Dr. Le Pichon prescribes vitamin B-12, a promising new treatment, and Dalton’s condition greatly improves.

Genomic Research: Finding Answers for Leukemia

Thanks to ground-breaking research at the Genomic Medicine Center at Children’s Mercy, new treatments provide hope to infants with acute lymphoblastic leukemia, a rare cancer of the blood and bone marrow that has a very poor prognosis. Watch as baby Brisia joins just 49 other infants around in the world in an oncology trial that pairs special drugs along with her standard chemotherapy in hopes of improving her chances for a cure.