Calibrating variant curation by clinical context based on factors that influence patients' tolerance of uncertainty
Details
Publication Year 2023-09-15,Volume 25,Issue #12,Page 100982
Journal Title
Genetics in Medicine
Publication Type
Research article
Abstract
PURPOSE: Shared decision-making manages genomic uncertainty by integrating molecular and clinical uncertainties with patient values to craft a person-centered management plan. Laboratories seek genomic report consistency, agnostic to clinical context. Molecular reports often mask laboratory-managed uncertainties from clinical decision-making. Better integration of these uncertainty management strategies requires a nuanced understanding of patients' perceptions and reactions to test uncertainties. We explored patients' tolerance of variant uncertainty in three parameters: 1. Relative causal significance, 2. Risk Accuracy, and 3. Classification validity. METHOD: Deliberative forum were undertaken with 18 patients with predictive testing experience. Uncertainty deliberations were elicited for each parameter. A thematic framework was first developed and mapped to whether they justified tolerance for more or less parameter-specific uncertainty. RESULTS: Six identified themes mapped to clinical and personal domains. These domains generated apposing forces when calibrating uncertainty. Personal themes justified tolerance of higher uncertainty, and clinical themes lower uncertainty. Decision-making in uncertainty focused on reducing management regret. Open communication increased tolerance of Classification Validity and Risk Accuracy Uncertainty. Using these data, we have developed a nascent clinical algorithm integrating molecular uncertainty with clinical context through a targeted communication framework. CONCLUSION: Maximizing test utility necessitates context-specific recalibration of uncertainty management and communication.
Publisher
Springer Nature
Keywords
Genomic uncertainty; genomic implementation; genomic medicine; patient preferences; polygenic risk scores; variant curation
Department(s)
Familial Cancer Centre; Health Services Research
PubMed ID
37724515
Terms of Use/Rights Notice
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Creation Date: 2023-11-21 05:54:40
Last Modified: 2024-07-30 01:46:16
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