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

The Children’s Hospital Colorado Precision Medicine Institute announces the recent opening of its innovative whole-genome sequencing lab. The lab 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. This transformation is driven by 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.

Genomic technology platform improves outcomes

"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. It can analyze and upload the staggering amount of data from one genome in less than a day."

Whole-genome sequencing aids diagnosis

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. 

How genomic data advances patient care

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.

A system designed to unlock diagnoses over time

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 become available.” 

Personalized prescriptions: using genetics to guide safer, more effective treatments

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 it will continue to adapt as we learn new information."

Making genetic testing easier for families

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.

Zooming in on the genome for deeper insight

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.