Generalizing Genomics Learning

Genomics is making an increasing impression on the clinical lab, with both providers and patients requesting tests for everything from drug sensitivities to risk of heart disease. Nonetheless, many laboratories aren’t able to provide genomic testing—and not all of those who can choose to include it in their test menus.

To broaden its adoption, the National Institutes of Health has instituted a new program that aims to integrate genomics into learning health systems—institutes that acquire and build on internal and external data for continuous improvement.¹ These systems focus on breaking down barriers between medical practitioners, community care services, and patients to deliver value-based, rather than volume-based, care. With their evidence-based approach to preventing disease and improving patient outcomes, learning health systems aim to drive innovation and disseminate knowledge to other, potentially less well-resourced institutions.

The new Genomics-enabled Learning Health System (gLHS) Network is jointly administered by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute. Over five years, the program will award $27 million in funding to projects that create shareable knowledge, tools, and resources that can benefit all types of labs, hospitals, and care providers.²

A link to learning

The new funding was prompted by recognition of the fact that genomics has seen limited adoption. “For example, BRCA mutations convey a 50 to 70 percent lifetime risk of developing certain diseases, yet they remain underutilized in clinical settings.³ As a result, many individuals with these risk factors go undetected—and this is only one example,” an NHGRI spokesperson says. “The adoption of learning health systems has gradually increased over the years, but genomics integration into these systems remains lacking. By supporting efforts to integrate genomics into learning health systems, we can enhance the adoption of genomics in clinical care while gaining a better understanding of its impact on clinical outcomes.”

The NHGRI chose to focus specifically on learning health systems because they have the necessary infrastructure to find and resolve barriers to the adoption of genomics in clinical practice. “The iterative process of implementing and measuring impact in learning health systems enables the identification of obstacles and the development of tools and resources to address those obstacles that can be used by less-resourced healthcare providers to enhance adoption within their specific clinical settings,” the NHGRI explains.

They hope that the first round of gLHS Network research will include projects aimed at “identifying individuals at significant risk, accelerating disease diagnosis, and ensuring appropriate and guideline-based treatment and preventive care to those identified. These are areas where we may see near-term benefits.” Proposals from participating institutions are already under discussion and final decisions will be made based on which projects are likely to have the greatest impact on the adoption of genomics-based testing.

Generalizable genomics

“Clinical laboratories play a crucial role in providing reliable and accurate genomic results that enable the effective integration of genomic information into clinical care,” the NHGRI says. “To achieve this, laboratories must deliver results in a digestible format, allowing health systems to incorporate the data into clinical decision support tools to help clinicians use the results effectively.”

But not every lab is in a position to begin offering genomic testing or scale up existing offerings—and not every patient population warrants it. In these cases, the value of the new gLHS Network lies in making genomics more accessible via collaborations or outsourcing.

“The focus of this effort is to increase the adoption of genomics where existing evidence supports broader use,” says the NHGRI. “These efforts can assist laboratories in determining whether the demand within their communities justifies incorporating the test into their workflows or whether they should develop processes for outsourcing the testing. Regardless of who generates the genomic result, the laboratory provides a critical role in working with clinicians to integrate and interpret genomic results effectively.”

Because the gLHS Network’s goal is to democratize genomics as much as possible, its teams will include community partners from healthcare settings with a variety of structures and resources. “Engaging and involving partners from across diverse populations and differently resourced settings is essential for understanding and ensuring the scalability and transferability of learnings and tools from this program and to help realize the promise of genomic medicine to make a difference in people’s lives,” the NHGRI notes. “These partners, along with affiliate members of the network, are critical for engagement and discussions to prioritize the tools and resources with the broadest applicability and adaptability to other settings based on purpose.”

The NHGRI encourages labs interested in expanding their use of genomic testing to become affiliate members of the gLHS Network. That way, they can share information about the challenges they face and the solutions they’ve found, gaining additional education and support from other members and adding their own knowledge to drive improvements in genomics access and adoption. The NHGRI says, “The intention is to foster co-development and co-learning to maximize the applicability of tools and learnings from gLHS Network activities that these champions and innovators from different types of settings can use to adopt genomics into their settings.”

Next steps

The six clinical sites involved in the gLHS Network are considering projects that range from pharmacogenomics and hereditary disease testing to personalizing laboratory reference ranges based on patients’ genomic data.⁴ Investigators are also open to more experimental proposals, such as those involving the use of artificial intelligence, but with caveats regarding their relevance and feasibility. For now, the network is focused on selecting projects with strong potential for generalizability, innovation, and clinical implementation in a wide range of settings.

“We are excited to bring this network together to move genomic discoveries into clinical practice,” Robb Rowley, program director for the NHGRI’s Electronic Medical Records and Genomics Network, told press.² “Learning health systems present an excellent opportunity to generate new medical understandings from genomic data, which is critical to realizing the promise of precision health for everyone.”

References:

1. Agency for Healthcare Research and Quality. About Learning Health Systems. May 2019. https://www.ahrq.gov/learning-health-systems/about.html.
2. Rogers A. NIH awards $27M to establish new network of genomics-enabled learning health systems. National Human Genome Research Institute. September 23, 2024. https://www.genome.gov/news/news-release/nih-awards-dollar27m-establish-new-network-genomics-enabled-learning-health-systems.
3. Kurian AW et al. Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol. 2019;37(15):1305–1315. doi:10.1200/JCO.18.01854.
4. Snyder B. ‘Learning’ network will help move genomics into the clinic. Vanderbilt University Medical Center. September 24, 2024. https://news.vumc.org/2024/09/24/learning-network-will-help-move-genomics-into-the-clinic.