不同种族人群中癌症基因检测结果的家庭沟通:对 200 多名患者的定性研究。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-08-01 Epub Date: 2024-05-30 DOI:10.1007/s12687-024-00712-z
Rachel Hodan, Miles Picus, Caroline Stanclift, Kelly E Ormond, Jennifer Morales Pichardo, Allison W Kurian, Charité Ricker, Gregory E Idos
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引用次数: 0

摘要

以往有关癌症基因检测结果的家庭沟通研究主要集中在非西班牙裔白人高风险致病变异体(PV)患者身上。关于中度风险 PV、意义不确定变异(VUS)和阴性结果的患者沟通数据有限。这项定性研究考察了不同种族和社会经济背景人群对遗传性癌症多基因面板(MGP)阳性、阴性和 VUS 结果的交流情况。作为一项多中心、前瞻性队列研究的一部分,该研究对美国加利福尼亚州三家医院的 2000 名接受 MGP 检测的患者进行了自由文本书面调查:在结果披露后 3 个月和 12 个月的调查问卷中,我们收集了参与者对 "是否愿意与他人分享讨论基因检测结果的想法或经验 "这一问题的自由文本书面调查回答。对来自 214 名受访者的 256 份回答进行了内容和主题分析,分析采用的是计划行为理论(TPB)。对分享基因检测结果有较高认知效用的受访者通常对分享检测结果持积极态度,并直接鼓励他人进行基因检测。在共享过程中自我效能感高的受访者可能会报告共享的高感知效用,而自我效能感低的患者更经常出现 VUS 结果,并且更可能报告共享的不确定性。与 TPB 一致,我们的研究结果表明,临床医生对基因检测效用的强化可能会增加患者交流基因信息的意愿。我们的研究结果表明,临床医生应将重点放在提高患者对 VUS 结果理解的策略上。
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Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients.

Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patients with high-risk pathogenic variants (PV). There are limited data on patient communication of moderate-risk PVs, variants of uncertain significance (VUS), and negative results. This qualitative study examined communication of positive, negative, and VUS hereditary cancer multi-gene panel (MGP) results in an ethnically and socioeconomically diverse population. As part of a multicenter, prospective cohort study of 2000 patients who underwent MGP testing at three hospitals in California, USA, free-text written survey responses to the question: "Feel free to share any thoughts or experiences with discussing genetic test results with others" were collected from participant questionnaires administered at 3 and 12-months post results disclosure. Content and thematic analyses were performed using a theory-driven analysis, Theory of Planned Behavior (TPB), on 256 responses from 214 respondents. Respondents with high perceived utility of sharing genetic test results often reported positive attitudes towards sharing test results and direct encouragement for genetic testing of others. Respondents with high self-efficacy in the sharing process were likely to report high perceived utility of sharing, whereas patients with low self-efficacy more often had VUS results and were more likely to report uncertainty about sharing. Consistent with TPB, our findings suggest that clinician reinforcement of the utility of genetic testing may increase intent for patients to communicate genetic information. Our findings suggest that clinicians should focus on strategies to improve patient understanding of VUS results.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
期刊最新文献
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