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

Fuente: arXiv
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Main Authors: Sun, Yuhao, Tenesa, Albert, Vines, John
Format: Preprint
Published: 2025
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author Sun, Yuhao
Tenesa, Albert
Vines, John
author_facet Sun, Yuhao
Tenesa, Albert
Vines, John
contents 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.
format Preprint
id arxiv_https___arxiv_org_abs_2501_19405
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle Human-Precision Medicine Interaction: Public Perceptions of Polygenic Risk Score for Genetic Health Prediction
Sun, Yuhao
Tenesa, Albert
Vines, John
Human-Computer Interaction
Computational Engineering, Finance, and Science
Emerging Technologies
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.
title Human-Precision Medicine Interaction: Public Perceptions of Polygenic Risk Score for Genetic Health Prediction
topic Human-Computer Interaction
Computational Engineering, Finance, and Science
Emerging Technologies
url https://arxiv.org/abs/2501.19405