ArticlePatient education and counseling2021
How patients deal with an ambiguous medical test: Decision-making after genetic testing.
Article in Patient education and counseling, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Pooled it
- Psychological distress following multi-gene panel testing for hereditary breast and ovarian cancer risk.Journal of genetic counseling · 2025Article
- Understanding Trust Determinants in a Live Chat Service on Familial Cancer: Qualitative Triangulation Study With Focus Groups and Interviews in Germany.Journal of medical Internet research · 2023Article
- "I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.Familial cancer · 2022Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
objectiveWe know little about how patients make decisions when they receive a variant of uncertain significance result (VUS) from genetic testing. The purpose of this study was to elucidate a model of patient-informed decision-making after receiving a VUS result.
methodsUsing an adapted Mental Models Approach, we conducted semi-structured interviews with women who received a VUS result from genetic testing for hereditary breast cancer (N = 20) to explore factors they believed were relevant to their decision-making. Two coders used a coding scheme informed by experts in hereditary breast cancer to conduct analysis. Inter-coder reliability was α = .86.
resultsThree overarching decision themes emerged from the interviews: managing ambiguity, medical risk management, and sharing results with others. While participants noted some difficulty understanding their result, genetic counselors' interpretations, psychosocial factors (e.g., risk perceptions), and competing extrinsic demands influenced their decisions.
conclusionComplex influences affect patient decision-making after a VUS result from genetic testing and may encourage health protective behavior. PRACTICE IMPLICATIONS: Even patients who understand their test result could use support managing the ambiguity of their test result and sharing it with others.
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