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

Research Background and Issues

What problems or challenges did the authors identify?

1. Potential and Challenges of Polygenic Risk Score (PRS):

   • Although PRS holds significant potential in disease risk prediction and preventive medicine, it faces several critical barriers, including data inclusivity, psychological impacts, and public trust.
   • Existing genetic databases are predominantly based on European populations, leading to lower prediction accuracy for other ethnic groups or communities.
   • The probabilistic nature of PRS data may cause psychological anxiety and confusion among users, especially in the absence of clear follow-up guidance.

2. Issues of Public Engagement and Technology Governance:

   • Data privacy and security are central concerns for the public, particularly when such data is handled by commercial entities.
   • There is a lack of triple-layer analysis of PRS applications in ethical, policy, and social dimensions, such as its potential misuse in sensitive scenarios like insurance, education, or embryo selection.

Why is this issue important?

• PRS is a crucial component of precision medicine, with the potential to transform traditional healthcare models.
• However, its successful widespread application depends on public trust, ethical transparency, and addressing psychological and social complexities.
• If mishandled, PRS could exacerbate health inequities and data misuse, thereby threatening the ethical foundation of precision medicine.

Research Motivation and Related Work

• Research Motivation: To deeply understand public perceptions of PRS in terms of psychological, ethical, and social acceptability, providing a foundation for future technology design and governance.
• Related Work:
  • Existing studies focus on genetic data privacy protection and user interaction in personalized healthcare contexts.
  • Some research explores the application of PRS in non-medical scenarios like insurance and education, along with its social implications.

Solutions

What methods or solutions did the authors propose?

• Mixed-method research design:

  1. Online questionnaire survey: Conducted quantitative and qualitative surveys with 254 participants to comprehensively understand public attitudes, concerns, and interests.
  2. In-depth personal interviews: Held 11 one-on-one interviews to explore psychological reactions in specific scenarios.
  3. Interactive storyboards and ContraVision technology: Designed contextualized, contrasting scenarios to enhance reflection and discussion.

• Proposal of "Human-Precision Medicine Interaction" (HPMI): Extending the Human-Computer Interaction (HCI) perspective to focus on identifying mechanisms of interaction between PRS and other precision medicine technologies with the public.

What is innovative about this solution?

1. Multidisciplinary approach: Integrates sociology, psychology, and HCI to comprehensively explore the complex interaction between users and medical technologies.
2. Dynamic scenario design: Uses ContraVision technology to present contrasting positive and negative outcome scenarios, stimulating deeper participant reflection.
3. Introduction of HPMI: For the first time, explicitly introduces HCI into the field of precision medicine, advocating for a more inclusive and collaborative design and implementation framework.

What are the implementation steps? What key technologies were used?

1. Online survey: Used open-ended questions to understand participants' interest, understanding, and concerns regarding PRS.
2. Scenario-based storytelling and interviews: Designed interactive storyboards and presented realistic contrasting scenarios to provoke discussion.
3. Data analysis: Combined quantitative statistics and thematic analysis to extract ten key barriers and five major themes regarding public perceptions of PRS.

Research Outcomes

What specific outcomes were achieved?

• Public perspectives and key barriers:

  1. Identified ten barriers, such as data privacy (⊘1), psychological health impacts (⊘2), information interpretation (⊘3), preventive actions (⊘8), etc.
  2. Extracted five major themes, including personal health management, information complexity, inclusivity needs, psychological impacts, and privacy and social trust.

• Design recommendations: Provided design suggestions for the entire PRS application process, including early education, result presentation methods, and dynamic updates for follow-up recommendations.

How does it compare to existing solutions?

1. User-centered design: Developed interaction strategies directly based on user needs and psychological models.
2. Full-cycle framework: Offers guidance from the "pre-use stage" to the "post-use stage," addressing the limitations of existing studies that focus on single phases.
3. Cross-disciplinary discussion: Expands the application potential of the HCI community in the precision medicine domain, considering both social impacts and technology governance.

What were the experimental or evaluation results?

• Survey and interview results indicate that public attitudes toward PRS are generally neutral but highly dependent on the context.
  • Education and insurance scenarios: Most participants held negative attitudes.
  • Embryo selection scenarios: Showed slight polarization.
• Dynamic feedback and personalized risk interpretation were widely anticipated by participants.

Limitations and Future Directions

• Limitations:

  1. The study sample primarily consisted of participants from the UK, limiting global applicability due to cultural and policy differences.
  2. A high proportion of highly educated respondents may introduce data bias.
  3. The rapid development of PRS and precision medicine technologies may render some findings outdated over time.

• Future Directions:

  1. Expand research to more diverse global contexts, including developing countries.
  2. Conduct longitudinal studies to track dynamic changes in public understanding and acceptance of precision medicine technologies.
  3. Explore how to develop interdisciplinary collaboration models centered on "Human-Precision Medicine Interaction."

Conclusion

This study transcends traditional technical discussions of PRS by integrating psychological, social, and design perspectives to propose a comprehensive cognitive and application framework. By establishing the concept of HPMI, the authors pave the way for interdisciplinary collaboration between HCI and precision medicine while offering feasible strategies for the responsible development of PRS.