By harnessing advanced information technology and integrating genomic data into patients’ care plans, we can identify the root causes of disease and tailor treatments to each child’s unique genetics. This approach improves outcomes and enhances quality of life, helping us heal kids more precisely than ever before.
Philanthropic and hospital investments are propelling major leaps forward in how we diagnose and develop personalized treatments for children. With donor support, in July 2023, Children’s Hospital Colorado formally launched the Precision Medicine Institute to empower our healthcare experts to treat patients’ unique diseases by integrating highly individualized genomic insights into their care.
What sets Children’s Colorado apart in precision medicine is our innovative, integrated, dynamic system that connects genomic data and patient medical records. As scientific understanding of genes and diseases evolves, patient care evolves in real time because our systems continuously update genomic information for clinicians, ensuring decisions are informed by the most current knowledge. Thanks to philanthropy, tomorrow’s medicine is a reality for kids today.
The Virtuous Cycle of Improvement with Research at its Core
Powerful Numbers
3
state-of-the-art genetic sequencing machines for more accurate diagnoses
9,000+
genetic tests performed in 2025, more than double the number of tests performed in 2023
50+%
success rate for rare disease testing, ending the diagnostic odyssey for more than half of the cases we sequence
The Flynn Fund: Expanding Access to Genetic Testing
Flynn was just 21 months old when his family learned through a routine ultrasound that he had a massive tumor on his liver. Up until that point, the little boy had never even had a fever, according to his mom, Natalie, so the family was understandably shocked. A follow-up blood test confirmed that Flynn had a high-risk hepatoblastoma, which, while rare, is the most common form of pediatric liver cancer.Open to learn more
Flynn began an aggressive course of treatment that included 11 rounds of chemotherapy and surgery to remove 70 percent of his liver. Through it all, Flynn demonstrated inner strength. “In our darkest moments, he was still laughing and continuing forward with positivity,” said Natalie.
Although Flynn’s medical journey is not yet over, his family has found many silver linings throughout their experience, especially in the quality of the care Flynn receives from the Center for Cancer and Blood Disorders team.
Inspired by these caregivers, the family established a crowdfunding page to raise funds in support of other families facing a pediatric cancer diagnosis, including access to genetic testing and other services that may not be covered by insurance.
“For families to struggle to access the care for their child that would allow them the best hope for survival is unthinkable. We want to stand with the patients and families at Children’s Colorado who need our help.”
-Natalie, Flynn’s mom
Precision Medicine Innovators in Leadership Roles
As Chief Precision Medicine Officer, Scott Demarest, MD, provides leadership and strategic oversight for precision medicine programs across Children’s Colorado and ensuring safe, highly reliable care for patients. Dr. Demarest was recently named the Fritz and Betty Knoebel Family Endowed Chair in Precision Medicine, thanks to a significant gift from the Betty Knoebel Charitable Trust. Betty Knoebel was the widow of Fritz Knoebel, who founded a bakery distributor in 1929 and built it into Nobel/Sysco Food Services Co., the nation’s largest privately owned food service distribution company.
Chief Genomics Officer Alisa Gaskell, PhD, is responsible for developing the strategic plan for genomics and other precision diagnostics, which fuel the clinical and research programs supported by the Precision Medicine Institute. Her unique clinical and commercial expertise make her ideal to lead the continued development of Children’s Colorado state-of-the-art Precision Diagnostic Lab.
“We are just at the beginning of clinical genomics. We have a long road ahead, but philanthropy sets us up to be at the forefront of that change.” -Dr. Gaskell
Spotlight on Southern Colorado
Through a $1 million philanthropic partnership with the John and Margot Lane Foundation, Children’s Colorado is accelerating genetic testing for kids in southern Colorado, ensuring that more families in the region get the answers they need faster. In 2025, we completed 1,000 next-generation sequencing tests for patients across southern Colorado counties, including El Paso, Pueblo, Teller and others along the I-25 corridor. Of these, 75% were whole genome sequencing (WGS), providing the most comprehensive diagnostic insights for our patients. The remaining 25% focused on oncology cases, enabling our providers to deliver precise tumor diagnoses and guide targeted treatment plans.
Engaging the Southern Colorado Community
Margarita Saenz, MD, a geneticist and southern Colorado native, has leveraged her deep community roots to champion equitable access to genomic medicine as part of her new role as Medical Director for Education and Family Engagement at the Precision Medicine Institute. Her efforts have focused on expanding outreach and educational initiatives for providers, patients and families in southern Colorado, ensuring that underserved regions benefit from cutting-edge precision health services. Through strategic partnerships, philanthropic stewardship and the development of culturally responsive educational materials, Dr. Saenz is driving a mission to build trust and understanding of genomic medicine while aligning these efforts with statewide equity goals.
The Lane Foundation’s gift includes a dollar-for-dollar match of other investments in precision medicine in the southern region, inspiring additional contributions and spurring progress forward.
“We want to bring the power of precision medicine to kids in southern Colorado and reduce the time it takes to properly diagnose children with rare conditions and diseases.”
-Laura Blackburn, on behalf of the John and Margot Lane Foundation
From Patient to Aspiring Medical Student: Gene Therapy Offers New Hope for the Future
Xavius Hymes from Little Rock, Ark., is an aspiring doctor. He is also a person with sickle cell disease, an inherited condition in which normally round and flexible red blood cells become hard, sticky and crescent shaped. The disease can cause anemia and organ failure, but its most common symptom is pain, sometimes severe enough to require emergency care.Open to learn more
Hymes said that, as a child, living with the disease wasn’t so bad. But by college, his pain had worsened. In fact, Hymes was spending at least one week per month in the hospital because of debilitating pain.
The night before taking a crucial entrance exam, the Medical College Admission Test, he suffered a severe pain crisis that landed him in the hospital, forcing him to miss the test.
Through online research, Hymes learned about Chris McKinney, MD, a hematologist at Children’s Colorado who specializes in sickle cell disease. At the time, Dr. McKinney was conducting a clinical trial for a gene therapy that involved collecting a patient’s stem cells, editing them to prevent the formation of sickle-shaped red blood cells, and then reintroducing the corrected cells into the blood stream.
The process is arduous and time-consuming but was successful for Hymes and about 90% of the other patients who participated in the clinical trial.
“It was a total change in my energy level and how I was able to just go about life! I didn’t have to worry about having pain crises every other day or every month,” said Hymes.
In December 2023, the Food and Drug Administration (FDA) approved two new gene therapies that can cure sickle cell disease. The two FDA-approved treatments are slightly different from what Hymes received, but they work the same way: editing cells and then returning them to the patient.
“Now, when families come in for their first visit with us to talk about what it’s going to look like for their child to live with sickle cell disease, we can at least provide them with some hope that it is very, very treatable,” Dr. McKinney said.
Hymes’s story has a happy ending: Xavius is currently a first-year medical student in Arkansas.
Ensuring Quality and Safety in Novel Therapeutics
The Precision Medicine Institute’s ExACT program (Excellence in Advanced Complex Therapeutics) is a first-in-the-nation initiative designed to ensure a standardized, collaborative framework for the safe, scalable and sustainable delivery of Advanced Complex Therapeutics, from early-phase research to FDA-approved standard of care.
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Advanced Complex Therapeutics are high-risk, novel treatments that often involve significant clinical, operational and regulatory complexity and require precise coordination across multiple disciplines. ExACT supports teams across the research-to-care continuum by ensuring therapies are delivered safely; aligning quality mechanisms and metrics; coordinating infrastructure, training and space to mitigate risk; and standardizing workflows across the hospital system.
Since 2021, the number of complex therapeutics administered at Children’s Colorado has grown from 250 to about 450 in 2025, an 80% increase. Since 2018, we have administered 2,551 therapeutics for 569 patients. These treatments now span more than 60 conditions across 14 departments, and the number of patients receiving FDA-approved ExACT therapies is projected to increase substantially each year because of our expanding capabilities and in-house expertise.
“Our goal is to design systems that are highly reliable so that as patient care volumes increase, we have systems and processes in place to meet the demands.”
-Jenae Neiman, RN, MBA, Vice President of Research Operations, Colorado Child Health Research Institute
Pharmacogenomics: A Primer
Simply put, pharmacogenomics (PGx) is the study of how an individual’s genetic makeup affects their response to medications, with the aim of tailoring drug treatments for optimal efficacy and safety.
But pharmacogenomics is anything but simple.
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Pharmacogenomics analyze specific genes known as pharmacogenes, which can affect how a person metabolizes and responds to medications. Variations in these genes can lead to differences in how individuals respond to certain drugs. For instance, some people may metabolize a drug too quickly, rendering it ineffective, while others may metabolize it too slowly, leading to potential toxicity.
This is particularly important for children, where individual genetics, changing liver and kidney function, and weight variability make drug dosing even more complex. Without accounting for these factors, a child may have an adverse reaction to an adjusted adult dose of a chemotherapy drug, for example.
Because Children’s Colorado offers whole genome sequencing (WGS), clinicians can get a complete analysis of a patient’s genetic code and identify any changes or variations in the coding regions of the DNA that influence medication metabolism or efficacy, said Elizabeth Fenstermacher, MD (pictured left), a child and adolescent psychiatrist.
“Our testing identifies any changes from common genetic sequences and allows us to identify known impactful variants, as well as new unknown variants. To our knowledge, we are the first pediatric hospital in the world to do this on a large scale.”
In 2024, the Precision Medicine Institute team launched routine clinical testing for two pharmacogenes, TPMT and NUDT15, which play a critical role in cancer drug metabolism. If prescribed without dose adjustments, the consequences can be severe or even fatal.
“We hope to launch up to 18 additional pharmacogenes in the next one to two years to understand broader impacts in prescribing across all specialties. By having genetic data integrated into a patient’s electronic health record and comprehensively offering guidance, we will keep our clinicians operating at the limits of new knowledge and help to keep our patients safe,” said Dr. Fenstermacher.
Shining the Light: Bringing Whole-Genome Sequencing In-House
In 2009, the first human genome sequencing effort introduced researchers to the concept of applying genetics to help identify and diagnose disease and revealed the incredible potential of genetics to transform medicine.
By examining a person’s DNA and exploring the protein-coding regions, researchers and doctors could uncover mutations that cause disease, better understand why someone is sick, diagnose rare conditions and develop more targeted treatments.
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To harness the remarkable power of whole-genome sequencing (WGS), Children’s Colorado opened an in-house WGS lab in September 2024 , revolutionizing the hospital’s capabilities. This required funding and physical space and the creation of a specialized team of molecular technologists, data scientists and engineers, along with technology and infrastructure, to support the work. Much of our progress in precision medicine has been accelerated by generous philanthropic support and hospital investments.
With an on-site WGS lab, our team can provide faster results, giving physicians and families timely answers that accelerate care for the most critically ill patients and puzzling rare diseases. In 2025 alone, we performed more than 6,300 tests using the WGS backbone.
Ready access to testing also strengthens collaboration, as clinicians, scientists and lab experts work closely together to interpret what a patient’s DNA reveals. Genetic data is securely integrated into each patient’s electronic medical record, preserved for future testing or analysis. At the same time, individual genetic data contributes to a growing dataset of consolidated human genetic information that could help cure pediatric diseases now and in the future through non-identifiable data.
Alisa Gaskell, PhD (pictured left), Chief Genomics Officer with the Precision Medicine Institute (PMI), calls progress over the past year nothing short of amazing: “Instead of having a tiny little flashlight [to examine genetic information], we now have a floodlight.”
Genomics Utilized, Innovated, Data Enabled
In 2025, Children’s Colorado launched the Genomics Utilized, Innovated, Data Enabled (GUIDE) program to broaden the impact of our genomics efforts beyond clinical laboratory services and into innovation, research, and strategic external partnerships.Open to learn more
GUIDE is a multifaceted program designed to extend the reach and influence of genomics across the region. Our clinical laboratory and genomics specialty services remain foundational, continuing to deliver the highest‑quality genomic testing for patients while expanding both test offerings and access to care.
Building on this clinical strength, the GUIDE innovation team evaluates and implements cutting‑edge genomic technologies, such as long‑read and methylation sequencing, ensuring that Children’s Colorado remains at the forefront of a rapidly evolving field. Working in close collaboration, the bioinformatics team is developing the data infrastructure needed to securely access, integrate, and analyze clinical genomic data at scale.
Together, these capabilities enable deeper partnerships with biotechnology, healthcare data, and pharmaceutical organizations seeking to harness genomic insights to advance the future of medicine. This shared infrastructure will also support a dedicated research arm focused on discovering new diagnostic and therapeutic approaches, pushing the boundaries of precision medicine and accelerating impact for children and families.
Thanks to You.
Just as precision medicine is redefining what’s possible in children’s health, philanthropy is redefining how quickly we can find answers. Together, we are accelerating discoveries, transforming care and giving children access to the most advanced, individualized treatments available.
At Children’s Colorado, the future of medicine is already taking shape — powered by innovation, collaboration and the generosity of supporters like you. Thank you for helping us bring the promise of precision medicine to life for the children we serve, today and in the years to come.