Approximately 50% of all rare diseases occur in kids, but diagnosing a disease can take years. State-of-the-art genomic treatments are creating opportunities to treat more diseases and diagnose them faster than ever before.

“It is an exciting time in medicine where previously untreatable conditions now have therapies being developed,” said Scott Demarest, MD, Clinical Director of the Precision Medicine Institute. “Children’s Colorado is uniquely positioned to advance genomic therapies in partnership with our vibrant research community on the Anschutz Medical Campus and generous donors. Together, we are using technology to integrate advancements into everyday patient care.”


“Philosophically, we believe that precision medicine is just medicine,” said Gregor Stoddard, Administrative Director of the Precision Medicine Institute. “This is why we have to strategically pursue our ambitions with an eye toward equity and sustainability. In the era of big data, we have an obligation to drive the best care and rapid advancements, while being responsible stewards of our patient’s most intimate data.”

Health equity is a crucial commitment of precision medicine efforts at Children’s Colorado. By increasing access to genetic testing, the genetic information of individuals from various underrepresented groups is regularly collected. Historically, underrepresented groups have been missing from large-scale genomic data sets, and increased genomic testing at Children’s Colorado will allow for improved health equity across patient populations.

"We hope that over time our ability to capture more data will allow us to acquire better answers for our patients, and to ensure that other institutions and labs will benefit from a larger, more diverse pool of pediatric data that helps us understand what's natural variation and what's something that is actually medically impactful," said Dr. Demarest.

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