Children's Hospital Colorado Announces Innovative In-House Whole-Genome Sequencing Lab

Setting the standard through dynamic genomic technology platform, improving patient outcomes

AURORA, Colo., March 12, 2025 /PRNewswire/ -- The Children's Hospital Colorado (Children's Colorado) Precision Medicine Institute today announces the recent opening of its innovative whole-genome sequencing lab that is revolutionizing the hospital's capabilities to make genomic results accessible and integrated into patient care. Since its launch, the lab has dramatically changed how providers and patients benefit from genetic testing based on the speed at which results are available, the ability to seamlessly integrate into the patient's electronic health record and the ease with which families can complete the test from home. 

"Our new, in-house, whole-genome sequencing lab transforms the hospital's capabilities, speeds up the process — and most importantly — improves patient outcomes," said Alisa Gaskell, PhD, Chief Genomics Officer at Children's Colorado. "The lab has ground-breaking technology and equipment that was co-developed by the team at Children's Colorado, that analyzes and uploads the staggering amount of data from one genome in less than a day." 

A genome is the entirety of an individual's DNA. Understanding patient genetics has been a well-established path at Children's Colorado; however, researchers previously needed to know where to look to identify the possible disease-causing mutation in the patient's 3.3 billion base genome. Today, Children's Colorado providers can simply put a whole genome order into the electronic health record, along with their primary concerns for testing, and the Precision Diagnostics lab system will manage the flow of information and deliver discrete results back to the health record. It allows doctors to explore a patient's DNA and look for possible disease-causing mutations, which could help identify, diagnose and treat countless conditions. 

Until recently, providers would send blood samples to external partner laboratories and receive a report on genetic mutations that might be involved in a child's disease presentation. However, the process sometimes took months.  

Additionally, instead of simply collecting a patient's DNA and answering one question, genomic information can now be stored and interfaced with the patient's electronic health record. That extra step provides experts with information that could help patients later, and it contributes to a larger dataset of human genetic information that could help solve medical mysteries now and in the future.   

As new information about genes and therapies becomes available, the system implements the updates, allowing the provider to review the results quickly and determine the most precise course of care.  

"We may not have the answer or diagnosis today, but because of how we set up our program, there's a high chance that we will be able to provide a diagnosis for the patient one day," said Nicholas Willard, DO, medical director of the Precision Diagnostics Laboratory at Children's Colorado. "The desire is to maximize the likelihood of us finding that answer as more information about genes and rare diseases becomes available."  

Children's Colorado is embracing pharmacogenomics – how a person's genes affect their response to drugs – and when prescribing a drug to a patient, a notification will prompt the provider to review the prescription or dosage as it may be impacted by their genetic results. 

"Children's Colorado is among the first institutions to integrate genetic information in a sophisticated way to help physicians and patients have the right information at the right time," said Scott Demarest, MD, Chief Precision Medicine Officer at Children's Colorado. "We created dynamic systems that help clinical teams feel confident they are delivering accurate diagnoses and treatment, and they will continue to adapt as we learn new information."  

Another differentiator is the use of buccal swabs instead of blood for testing. Because needle pokes and additional appointments can be a major barrier to care for children, the team decided to use a simple swab of the inner cheek instead and began mailing kits to families' homes, where patients can collect samples from the comfort of their living rooms. This also allows parents to send the team their own DNA samples, which can help create an even more complete picture of their child's genome.   

The technology in Children's Colorado's new genome sequencing tools can be compared to a mapping satellite that takes pictures of the whole planet and then can zoom in on a single property. Similarly, a large picture of a genome can be honed to help researchers understand specific regions with mutations. Using technology from Illumina, a leading developer of genomic solutions, along with internally developed algorithms, the team can uncover essential associations between genetic differences and clinical presentation. Parental DNA helps narrow the picture further by weeding out inherited mutations and dialing into unique alterations or combinations within the patient's DNA.   

Children's Colorado established the Precision Medicine Institute in 2023. Co-founded by Demarest and Gaskell, the Institute uses innovative technology to integrate big data, including genomic data, into each individual patient's care plan to determine the best treatment for each patient. 

ABOUT THE CHILDREN'S HOSPITAL COLORADO PRECISION MEDICINE INSTITUTE 

Children's Hospital Colorado is one of the nation's leading and most expansive nonprofit pediatric healthcare systems, with a mission to improve the health of children through patient care, education, research and advocacy. At Children's Colorado, our focus on precision medicine allows us to play an active role in designing the future of care. Our Precision Medicine Institute was created to improve patient access to novel diagnostics, genomic testing and powerful therapeutics to aid in quick, accurate diagnosis and precise treatments. To do this, our institute supports clinicians and researchers through infrastructure, centralized knowledge, shared resources and collaborative opportunities. We are working to harness the power of precision medicine because we believe in a future in which all children receive care tailored to their unique needs. For more information about Children's Colorado, visit childrenscolorado.org or connect with us on Facebook, Instagram and YouTube.

Media Contact:  
Rachael Fowler 
Media Relations, Children's Hospital Colorado
24/7 media line: 303-890-8314 
[email protected]  

SOURCE Children's Hospital Colorado