Human-Precision Medicine Interaction: Public Perceptions of Polygenic Risk Score for Genetic Health Prediction

2025-01-31

AI Summary

This study investigates public awareness, ethical concerns, and adoption barriers surrounding polygenic risk scores (PRS) in precision medicine. Employing a mixed-methods approach—254 surveys and 11 in-depth interviews—integrated with an original interactive storyboard (ContraVision) and thematic coding analysis, it introduces the “Human–Precision Medicine Interaction” (HPMI) framework: the first HCI-informed conceptual model addressing core PRS challenges, including poor interpretability, underrepresentation in training data, and psychological burden. The study identifies ten categories of adoption barriers and five overarching thematic concerns, synthesizing them into a responsible PRS design framework. It further derives seven actionable, evidence-based design implications for practitioners and policymakers—aimed at enabling human-centered, equitable, and trustworthy clinical and societal deployment of PRS.

Technology Category

• Knowledge Representation and Reasoning: Preferences
• Application Domains: Humanities & Computational Social Science
• Humans and AI: Learning Human Values and Preferences

Application Category

• User Modeling, Personalization and Recommendation: Accountability, Transparency, and Ethics for personalization
• Responsible Web: Human-perceived consequences of algorithmic deployment on the web
• Economics, Online Markets and Human Computation: Fairness, privacy, and diversity in economic environments

Abstract

Precision Medicine (PM) transforms the traditional"one-drug-fits-all"paradigm by customising treatments based on individual characteristics, and is an emerging topic for HCI research on digital health. A key element of PM, the Polygenic Risk Score (PRS), uses genetic data to predict an individual's disease risk. Despite its potential, PRS faces barriers to adoption, such as data inclusivity, psychological impact, and public trust. We conducted a mixed-methods study to explore how people perceive PRS, formed of surveys (n=254) and interviews (n=11) with UK-based participants. The interviews were supplemented by interactive storyboards with the ContraVision technique to provoke deeper reflection and discussion. We identified ten key barriers and five themes to PRS adoption and proposed design implications for a responsible PRS framework. To address the complexities of PRS and enhance broader PM practices, we introduce the term Human-Precision Medicine Interaction (HPMI), which integrates, adapts, and extends HCI approaches to better meet these challenges.

Problem

• Public Perception
• Polygenic Risk Scores
• Ethical Psychological Social Issues

Innovation

• Human-Precision Medicine Interaction (HPMI)
• Polygenic Risk Score (PRS) Responsiveness
• Responsible Precision Medicine Design