Comprehension and Perception of Genetic Influence: A Psychosocial Examination of Polygenic Risk Scores

Polygenic risk scores (PRS) are becoming increasingly accessible through direct-to-consumer (DTC) platforms and clinical practice. While PRS have the potential to enhance health monitoring and motivate preventive behaviors, misinterpretation of probabilistic risk estimates may also induce distress, reinforce genetic determinism, and lead to misguided health-related decisions. Present research indicates that patients and the public frequently misunderstand PRS results, often overestimating genetic influence and failing to contextualize probabilistic risk. Additionally, despite the rapid expansion of PRS use, standardized guidelines for communicating their meaning, limitations, and predictive accuracy remain lacking. This mixed-methods research program aims to systematically examine PRS comprehension, identify psychological predictors of genetic determinism, and develop evidence-based educational interventions to enhance genetic risk communication and comprehension. Aim 1 will assess how individuals understand genetic and statistical concepts underlying PRS through the development and evaluation of infographics designed to improve comprehension. Additionally, this aim will investigate how genetic causal attributions and genetic beliefs shape PRS interpretations, psychosocial responses, and health decisions. Aim 2 will experimentally evaluate how different PRS result formats (percentile rank vs. percentage change) and the inclusion of predictive accuracy metrics influence risk perception, emotional reactions, and subsequent health behaviors. Aim 3 will build upon these findings by experimentally testing PRS infographics integrated with a comprehension assessment and targeted corrective feedback to enhance public understanding and informed health decision-making. Overall, this research will identify key comprehension barriers, determine effective communication strategies, and establish best practices for responsibly reporting PRS results in both clinical and DTC settings. Findings will provide critical insights for healthcare providers, policymakers, and genomic companies to optimize PRS integration into precision medicine, empowering individuals to make informed, personalized health choices. This research will further serve as the foundation for a future R01-funded longitudinal randomized controlled trial (RCT) evaluating the long-term effectiveness of PRS communication strategies on psychosocial and behavioral health outcomes. By improving PRS comprehension, this work will help bridge the gap between scientific advancements in genomics and their ethical, effective application in public health. Project Number: 1K99HG014202-01A1 | Fiscal Year: 2026 | NIH Institute/Center: National Human Genome Research Institute (NHGRI) | Principal Investigator: Remy Furrer | Institution: MASSACHUSETTS GENERAL HOSPITAL, BOSTON, MA | Award Amount: $143,329 | Activity Code: K99 | Study Section: Special Emphasis Panel[ZRG1 SEIR-B (80)] View on NIH RePORTER: https://reporter.nih.gov/project-details/11302339