Patient education and counseling · 2026
Uncertainty and information management for Lynch syndrome in a genomic screening cohort: Connections to clinical engagement.
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Hallquist Miranda Lg, Bakhsh Reem I, Delehoy Brooke N, Campbell-Salome Gemme
Аннотация
OBJECTIVE: Lynch syndrome (LS) is a common hereditary cancer predisposition syndrome. This study explores how individuals learning about LS-related cancer risk through a population genomic screening program appraise, reappraise, and manage uncertainty and engage in medical management.
METHODS: We recruited participants with an LS result from a population genomic screening study, purposively sampling based on the characteristics of sex, age, LS gene, and family history of cancer. Semi-structured interviews and chart reviews focused on participants' experiences of learning about the LS result and making management decisions. Thematic analysis and heatmapping were used to explore participant characteristics related to uncertainty management and clinical engagement.
RESULTS: Seventeen participants completed interviews, describing uncertainty discrepancies or ambivalent appraisals. Most participants who appraised their LS risk as a threat had high clinical engagement. All participants who had lower clinical engagement received misinformation, had little support from clinicians, or had misunderstandings about LS.
CONCLUSION: Accurate information from trusted sources is critical to support uncertainty management and subsequent engagement in clinical risk management choices.
PRACTICE IMPLICATIONS: Ensuring primary care providers have the information and tools to provide patients with accurate information may support recommended clinical engagement, thereby improving health outcomes for this population.
METHODS: We recruited participants with an LS result from a population genomic screening study, purposively sampling based on the characteristics of sex, age, LS gene, and family history of cancer. Semi-structured interviews and chart reviews focused on participants' experiences of learning about the LS result and making management decisions. Thematic analysis and heatmapping were used to explore participant characteristics related to uncertainty management and clinical engagement.
RESULTS: Seventeen participants completed interviews, describing uncertainty discrepancies or ambivalent appraisals. Most participants who appraised their LS risk as a threat had high clinical engagement. All participants who had lower clinical engagement received misinformation, had little support from clinicians, or had misunderstandings about LS.
CONCLUSION: Accurate information from trusted sources is critical to support uncertainty management and subsequent engagement in clinical risk management choices.
PRACTICE IMPLICATIONS: Ensuring primary care providers have the information and tools to provide patients with accurate information may support recommended clinical engagement, thereby improving health outcomes for this population.