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To better integrate precision medicine into the care they deliver, Children’s Hospital Colorado (Children’s Colorado) has launched a Precision Medicine Institute. The institute will use big data, including genomics, to determine “the best treatment for each patient,” according to a release. The effort is funded in part by a recent $5 million gift from Elizabeth “Betsy” Searle, chair of the Children’s Colorado Foundation Board of Trustees.

“Accurate genetic diagnoses form the foundation of precision medicine, and we see genomics and next-generation diagnostics driving more precise treatment and care plans,” said Alisa Gaskell, PhD, scientific director of the Children’s Colorado Precision Medicine Institute.

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

“While today we can only diagnose some patients, new technologies and analytical approaches will allow us to understand how genetic makeup affects the course of illness, and that knowledge will help us transform healthcare centered around the unique features of each patient,” said Gaskell.

Children’s Colorado specialists are pioneering precision medicine treatments for numerous childhood diseases such as pediatric cancer, rare neurodegenerative diseases, cystic fibrosis, cardiomyopathy, neuromuscular conditions, genetic and metabolic disease, and others.

“Our investment in precision medicine is critical in that it drives the future of medicine and patient care. The work will focus on diagnostics, therapeutics, and education to ensure the most comprehensive and holistic care now while enabling integrated research that will result in future discovery,” said David Brumbaugh, MD, chief medical officer at Children’s Colorado. “I’m proud of our team who are committed to evolving the state of medicine and advancing access to the best care for patients and their families.”

“It is an exciting time in medicine where previously untreatable conditions now have therapies being developed,” said Scott Demarest, MD, clinical director of the new 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.”

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.

“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.”

“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 Demarest.

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