Patient Perceptions of Genomic Medicine

Common themes emerge from genomic medicine interventions.

Implementation science is a growing field – with the rise in funding to match. Increasingly, researchers are applying implementation science concepts to aid in integrating evidence-based practices, interventions and policies into health care.

The NIH-funded Implementing Genomics in initiative provides a platform for researchers to identify and share effective implementation strategies in genomic medicine. The network encompasses multiple study sites, including Vanderbilt University Medical Center, each conducting a different genomic medicine intervention.

“We’re not working in funded silos, but rather across the network,” said Andrea Ramirez, M.D., assistant professor of medicine at Vanderbilt. Ramirez is a member of IGNITE’s Common Measures Working Group that identifies common themes related to genomic medicine implementation across study sites.

Measuring Patient Perceptions

 “We all started with different projects, and we wanted to know how we could bring them all together to learn common themes,” Ramirez said.

The Common Measures Working Group recently analyzed how 6,817 patients perceive the interventions. They published their findings in Molecular Genetics and Genomic Medicine.

Ramirez helped analyze participant-facing questions for each of the interventions, standardize data collection, and identify what was common across sites. “How you phrase a question and get the right feedback matters. We need to know if patients are interested in genomic medicine, and how their perceptions differ by age, race, ethnicity or other factors,” Ramirez said.

Uncovering Differences

Cross-network analyses revealed associations between patient demographics and overall attitudes toward genomic medicine, their plan to share results, and quality of life.

Age was a major factor across outcomes. Younger participants were more positive before the intervention and more negative afterward. They were also more likely to share results and have higher quality of life throughout the interventions. Race was not a significant factor – though Caucasian participants were slightly more inclined to share results.

A participant’s likelihood of sharing results can be critical in genomic interventions. “Once you identify one person with a genetic change, their family members are likely to have a similar pattern,” Ramirez said. “If we identify an index case, and they don’t plan to share it, we need to know what’s an appropriate way to reach out to their family and the ethics involved.”

Informing IGNITE II

“By understanding the individual influences that impact the delivery of genomic medicine, we can better inform personalized care models of the future.”

The analyses have informed how IGNITE researchers will optimize and use methods to gather qualitative information in larger projects to come. Already five IGNITE sites have secured additional funding for IGNITE’s next phase to apply lessons learned.

“In IGNITE II we’re going to be charged with doing genomic medicine trials across many different study sites,” Ramirez said. The team is designing data collection surveys and tools sensitive to how different groups may perceive genomic medicine. Their goal is to minimize their impact throughout the intervention.

“By understanding the individual influences that impact the delivery of genomic medicine, we can better inform personalized care models of the future,” Ramirez said.