NEW YORK – Children's Hospital Colorado has a new philanthropy-funded precision medicine effort that it seeks to build into a central hub for developing and fine-tuning diagnostic and targeted treatment programs for the entire organization.
The Precision Medicine Institute launched at the nonprofit pediatric hospital system last month as the culmination of years of work ongoing across the organization. The institute will operate as a "horizontal" service line, according to Alisa Gaskell, its scientific director, meaning that precision medicine programs will run alongside and in support of other clinical and operational departments.
Precision medicine is already "happening all over our organization," Gaskell said. Now, the "service lines, labs, electronic health records, [and] IT … all of these components need to come together to make precision medicine really the fabric of how we practice medicine."
The Precision Medicine Institute is built around three pillars: developing and improving diagnostics and therapies, as well as educating patients. But beyond advancing new precision medicine interventions, the institute will also focus on ensuring that these tests and drugs are reaching patients. The institute will work with partners and other departments to identify access barriers and establish delivery and reimbursement mechanisms aimed at getting patients on new gene, cell, and other precision therapies.
There are many reasons why a patient might not receive precision medicines. They might not have access to genetic testing, for example, which could help diagnose their illness and identify the drug they'll respond best to. Even if they undergo such testing, it might reveal variants of uncertain significance, making a definitive diagnosis difficult — particularly when patients have rare diseases. And when patients are diagnosed with a rare illness, there might not be a treatment for them.
Gaskell is hoping the Precision Medicine Institute will partner with other departments within the Aurora, Colorado-based hospital system looking to integrate precision medicine into patient care. Some of this collaboration is already happening. For example, Children's Colorado's Precision Diagnostics Laboratory has worked closely with the pediatric cancer program to understand what additional tests would be useful for diagnosis and prognosis, such as comprehensive RNA evaluations, and how clinicians want those test results delivered and presented.
To facilitate similar partnerships, the Precision Medicine Institute is coordinating physician liaison groups and establishing a process for departments to assess their precision medicine needs.
"Our hope is that we can build a culture of precision medicine and that people will see us as their allies in getting these big, large initiatives across the [finish] line," Gaskell said. "We believe that there's a precision medicine tool out there for any setting." For example, even when patients don't present with any genetic predispositions to disease, they might still benefit from pharmacogenomic testing to determine if they are on optimal medications for pain management, heart disease, depression, and other chronic issues, or if the drugs they're on increase their risk for adverse events.
Gaskell, who will continue to serve in her previous role as the director of the Precision Diagnostics Laboratory, is part of a three-person leadership team at the Precision Medicine Institute. As scientific director, Gaskell brings her expertise in diagnostics, while pediatric neurologist Scott Demarest serves as the clinical director and Gregor Stoddard serves as the administrative director.
Stoddard noted that precision medicine has become one of Children's Colorado's strategic goals. Hospital leadership determined it was time to establish an "institutional approach" to the discipline given recent advancements in diagnostic tools and novel therapeutics. An organization-wide approach is also needed to support equitable access to these advancements, Stoddard said.
However, at the Precision Medicine Institute, the aim isn't to provide genetic sequencing to every patient, Gaskell said, but to identify triggers or events within each patient's healthcare journey where testing could inform care. "There is that clinical nuance that we want to bring forward," Gaskell said, adding that a precision medicine approach guided by an understanding of when testing is clinically useful for patients might sway more payors to cover such interventions.
Gaskell and colleagues began putting together a strategic plan for a Precision Medicine Institute in 2018. The plan was ultimately approved by Children's Colorado leadership in the weeks leading up to the start of the COVID-19 pandemic, which diverted hospital resources and delayed some of the work to establish the institute.
However, COVID-19 also put a spotlight on the power of genomics, as efforts to sequence the coronavirus allowed experts to identify and track SARS-CoV-2 variants infecting populations around the world, Gaskell said.
To assess the success of the institute in facilitating precision medicine throughout Children's Colorado, and determine where future investments should be made, leaders at the new initiative will track the extent to which patients have access to genetic testing, how long it takes to return test results, how useful the results are in diagnosing disease and informing treatment, how many precision medicine clinical trials are enrolling patients, and whether all this testing and individualized treatment is actually improving patients' safety and outcomes.
The institute's work is funded primarily through philanthropy at this point, including a $5 million gift from Elizabeth Searle, chair of the Children's Hospital Colorado Foundation board of trustees, although the institute is also supported by hospital investments, research funds, and industry contributions. Eventually, Gaskell hopes the Precision Medicine Institute will become self-sustaining and show a return on investment from providing precision care.
"This can only become medicine if it's really self-sustained and financially feasible," she said.