. 2026 Sep 26;17(5):112. doi: 10.1007/s12687-026-00944-1

Table 2.

Guiding questions and points to consider about patient/family-centered impacts

Guiding questions
• How do individuals and families with lived experience perceive the seriousness of the condition, and what impacts does it have on their daily lives, well-being, and economic circumstances? • How might labelling a condition as serious enough to justify PCS influence stigma, identity, and societal perceptions of disability? • How should societal views about which conditions are appropriate targets for prevention be balanced with respect for diverse lived experiences and perspectives on disability? • What approaches can be used to engage the public in discussions or deliberations about which conditions should be included on screening panels (e.g., forums, surveys, deliberative panels)?
Points to consider
Consider impacts on asymptomatic carriers: Evaluate the potential benefits and harms of PCS for carriers, including effects on anxiety, uncertainty, identity, and well-being. Embed meaningful community engagement: Involve individuals with lived experience, patient advocacy groups, cultural communities, end users, and other affected stakeholders early and throughout the process to ensure diverse perspectives, evolving understandings of disability, and real-world impacts are reflected. Account for cultural, social, and political context: Consider how cultural norms, disability perspectives, and broader social and political contexts influence perceptions of seriousness and inform equitable decision-making.

Guiding questions

• How do individuals and families with lived experience perceive the seriousness of the condition, and what impacts does it have on their daily lives, well-being, and economic circumstances?

• How might labelling a condition as serious enough to justify PCS influence stigma, identity, and societal perceptions of disability?

• How should societal views about which conditions are appropriate targets for prevention be balanced with respect for diverse lived experiences and perspectives on disability?

• What approaches can be used to engage the public in discussions or deliberations about which conditions should be included on screening panels (e.g., forums, surveys, deliberative panels)?

Points to consider

Consider impacts on asymptomatic carriers: Evaluate the potential benefits and harms of PCS for carriers, including effects on anxiety, uncertainty, identity, and well-being.

Embed meaningful community engagement: Involve individuals with lived experience, patient advocacy groups, cultural communities, end users, and other affected stakeholders early and throughout the process to ensure diverse perspectives, evolving understandings of disability, and real-world impacts are reflected.

Account for cultural, social, and political context: Consider how cultural norms, disability perspectives, and broader social and political contexts influence perceptions of seriousness and inform equitable decision-making.