“This Has to Happen” - Children's Hospital Colorado is bringing precision medicine closer to patients.

Use of comprehensive patient data in healthcare brings with it opportunities to transform clinical care. Nowhere is the potential greater than in precision medicine— which is using genomics to make medicine more precise and changing how care is delivered.

Children's Hospital Colorado (Aurora), home to one of the leading precision medicine programs in the country, is guided by a philosophy that genomics should serve patients rather than exist simply as an esoteric research endeavor.

Becker's Hospital Review recently spoke with leaders from Children's Colorado's Precision Medicine Institute, including:

  • Scott Demarest, MD, Clinical Director
  • Alisa Gaskell, PhD, Scientific Director
  • Gregor Stoddard, Administrative Director

They discussed the background and vision for the Precision Medicine Institute, its focus and investments, initial results and future plans.

Developing an institutional approach to precision medicine

In the mid-2010s, Children's Colorado had pockets of precision medicine expertise, including some medical programs and faculty members who were leaders in this space, as well as investments in the organization's clinical laboratory. However, Children's Colorado lacked an institutional approach to precision medicine. Meanwhile, it was becoming more common for peer institutions to make investments in this space.

These factors led Children's Colorado to initiate a strategic planning process for its approach to a precision medicine program powered by genomics. This process involved defining the organization's aspirations, looking at what was necessary to continue attracting world-class faculty and assessing where investments had already been made along with the value and risks of making (or not making) additional investments.

"Ultimately, our strategic plan was approved, and we were conceptualized as a horizontal service line with the goal of bringing novel tools and technologies to bear across diagnostics, treatments and our educational platforms," Ms. Stoddard said.

Securing leadership support for a robust program

Ms. Stoddard pointed out that leadership at Children's Colorado was clear that precision medicine would play a significant role in the advancement of medicine, especially in pediatrics. The organization's leadership also understood there were significant risks to not investing in this area. These risks included lagging behind peer institutions and hindering the ability to attract a high-caliber workforce. There was a sense that to remain a preeminent institution and to continue to build a national reputation, it was necessary to create an institutional capability in precision medicine.

To secure leadership support, the Precision Medicine Institute took a stepwise approach to building its program. They articulated big aspirational goals and the risks of not pursuing these goals, and then created a series of smaller milestones. Instead of focusing on five, 10 or 15 years out, shorter timeframes of roughly 18 months were established. "We were able to look at an investment and a timeframe that was much more palatable to leaders than say $100 million for a 10-year aspiration," Ms. Stoddard said. Children's Colorado was able to connect near-term value to its longer-term vision, which gave leadership comfort in making foundational investments in this institute.

Building Children's Colorado's Precision Medicine Institute

Dr. Demarest explained that different precision medicine programs around the country tend to have spectrum between discovery and clinical care. "We are a clinical-first program," he said. "We want to ensure that when we are deciding to invest in or focus on something that we are deriving direct benefit for patients."

He emphasized that research isn't enough; Children's Colorado sees a feedback loop where the clinical care that is delivered drives research opportunities, and those research opportunities flow back into clinical care, akin to a learning health system. "We're building our infrastructure on a clinical genomics platform," Dr. Demarest said. "But what we're not doing is giant research programs without a clear connection back to clinical care."

Children's Colorado's precision medicine program is based on three pillars: diagnostics, treatment and education. It all starts with providing equitable and timely access to genomic testing, which leads to diagnosis. "Without that diagnosis, you can't get to precision treatments and therapies," Dr. Demarest said. "So, therapy is really built on top of diagnoses." In addition to therapy is education, which enables alignment across the pillars and feedback for new insights.

Supporting the vision with significant investments

In building the Precision Medicine Institute, Dr. Gaskell said the team at Children's Colorado considered how to establish medicine as a data-driven entity that supports their complex aspirations. As a result, they've committed to developing an integrated information infrastructure. This infrastructure involved collecting data and priming that data for reuse across multiple purposes. The intended result is to efficiently and effectively assimilate knowledge and bring it back to patients.

Creating this data infrastructure required major investments, along with investments to stand up an in-house genomics laboratory and to integrate it with the EHR, so clinicians have access to genomic data at the point of care.

Other investments have included those to create the therapeutic capacity to deliver novel therapeutics in a safe way, as well as investments in research infrastructure to support participation in complicated, high-quality clinical trials. In addition, Children's Colorado is making investments in the education space, such as faculty and clinician training and a precision medicine fellowship program that enables participating physicians to be on the cutting edge of precision medicine. This is a strong point for the institution for attracting and enabling physicians to be able to practice the best care based possible.

Delivering meaningful clinical and operational results

Through precision medicine, Children's Colorado has already achieved important results. "We saw almost a doubling of our clinical yield," Dr. Gaskell said, referring to the institute's oncology results. "We've had numerous wins where we've been able to give a more precise diagnosis. We've empowered our oncologists to be more nimble and informed, and as such, our patients are getting more precise care."

Beyond oncology, Dr. Demarest mentioned positive developments in treating pediatric patients with neurologic conditions and cardiac challenges. "There are numerous examples and scenarios where our diagnosis has allowed us to bring a treatment to bear that we wouldn't have thought made any sense prior to getting that genomic diagnosis," he said.

Another meaningful result relates to health equity. By increasing access to genetic testing, the genetic information of individuals from various minority groups has been captured. This is important because minority groups have historically been unrepresented in large-scale genomic datasets. "We have seen even early in our data that we are capturing many minority groups in the ways that we are offering genomic testing to our patients," Dr. Demarest said. "We hope that over time this will allow us to not only get better answers for those patients, but also enable us to contribute to these databases of knowledge to ensure that other institutions and labs that do genomic testing will also benefit from a larger, diverse pool of data that helps us understand what's just natural variation and what's something that is actually medically impactful."

In creating its own genomic lab, Children's Colorado also has reduced reliance on reference laboratories and additional costs incurred in sending out samples for various testing. Moving testing in-house on a unified testing platform captured additional value in scale, and menu consolidation. Having its own lab also can speed up the time to diagnosis and treatment, which can reduce the length of stay and even reduce the lifetime cost and burden of care.

The Precision Medicine Institute is also having a real impact on families by eliminating some barriers to genomic testing and treatment, and getting answers sooner. Also, Children's Colorado is gathering data to start making the case to payers that there is a more rational approach to genomic testing and treatment, which will hopefully start to remove insurance barriers around access to testing, diagnosis and treatment. There is already momentum with some payers to cover genomic tests for various diseases that may have genetic-causes.

Linking the precision medicine service line with other parts of Children's Colorado — and beyond

"We're a horizontal service line, and our mandate is to support all of the service lines across our hospital to maximize the impact of precision medicine opportunities," Dr. Demarest said. This involves prioritizing investments and being as strategic as possible in engaging with and supporting other service lines.

Children's Colorado is an active participant in the emerging precision medicine ecosystem. "Every aspect of our program is plugged into and connected to the larger community," Dr. Demarest said. This includes sharing knowledge and best practices, publishing research, participating in various networks and engaging in informal knowledge sharing.


The team from Children's Colorado doesn't view genomics guided precision medicine as easy — and they don't view it as optional. "This has to happen," Dr. Gaskell said.

Dr. Demarest observed that while precision medicine is currently seen as a separate area of medicine, in reality, this isn't the case. "Precision medicine is just medicine," he said. "We have to be able to integrate large genetic data into our care. We have to get it right for our patients. And frankly, the value proposition of this is incredibly exciting."

Children's Colorado's experience shows that precision medicine is not the future of medicine anymore and validates the need to prioritize patient-driven clinical care today, while also engaging in research built on the foundation of a data and knowledge infrastructure.

To learn more about how other institutions are adopting precision medicine, visit “the Insider” here.

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