Patrick-Miller Linda J, Egleston Brian L, Fetzer Dominique, Forman Andrea, Bealin Lisa, Rybak Christina, Peterson Candace, Corbman Melanie, Albarracin Julio, Stevens Evelyn, Daly Mary B, Bradbury Angela R
Department of Medicine, Division of Hematology-Oncology, Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, IL, United States.
JMIR Res Protoc. 2014 Oct 29;3(4):e49. doi: 10.2196/resprot.3337.
Dissemination of genetic testing for disease susceptibility, one application of "personalized medicine", holds the potential to empower patients and providers through informed risk reduction and prevention recommendations. Genetic testing has become a standard practice in cancer prevention for high-risk populations. Heightened consumer awareness of "cancer genes" and genes for other diseases (eg, cardiovascular and Alzheimer's disease), as well as the burgeoning availability of increasingly complex genomic tests (ie, multi-gene, whole-exome and -genome sequencing), has escalated interest in and demand for genetic risk assessment and the specialists who provide it. Increasing demand is expected to surpass access to genetic specialists. Thus, there is urgent need to develop effective and efficient models of delivery of genetic information that comparably balance the risks and benefits to the current standard of in-person communication.
The aim of this pilot study was to develop and evaluate a theoretically grounded and rigorously developed protocol for telephone communication of BRCA1/2 (breast cancer) test results that might be generalizable to genetic testing for other hereditary cancer and noncancer syndromes.
Stakeholder data, health communication literature, and our theoretical model grounded in Self-Regulation Theory of Health Behavior were used to develop a telephone communication protocol for the communication of BRCA1/2 genetic test results. Framework analysis of selected audiotapes of disclosure sessions and stakeholders' feedback were utilized to evaluate the efficacy and inform refinements to this protocol.
Stakeholder feedback (n=86) and audiotapes (38%, 33/86) of telephone disclosures revealed perceived disadvantages and challenges including environmental factors (eg, non-private environment), patient-related factors (eg, low health literacy), testing-related factors (eg, additional testing needed), and communication factors (eg, no visual cues). Resulting modifications to the communication protocol for BRCA1/2 test results included clarified patient instructions, scheduled appointments, refined visual aids, expanded disclosure checklist items, and enhanced provider training.
Analyses of stakeholders' experiences and audiotapes of telephone disclosure of BRCA1/2 test results informed revisions to communication strategies and a protocol to enhance patient outcomes when utilizing telephone to disclose genetic test results.
疾病易感性基因检测作为“个性化医疗”的一种应用，有可能通过提供基于风险降低和预防的建议，增强患者和医疗服务提供者的能力。基因检测已成为针对高危人群进行癌症预防的标准做法。消费者对“癌症基因”以及其他疾病（如心血管疾病和阿尔茨海默病）相关基因的认识不断提高，同时越来越复杂的基因组检测（即多基因检测、全外显子组测序和全基因组测序）的可及性不断增加，这使得人们对基因风险评估以及提供此类服务的专家的兴趣和需求不断升级。预计需求的增长将超过基因专家的供给。因此，迫切需要开发有效且高效的基因信息传递模式，使其在风险和收益方面能与当前面对面交流的标准相媲美。
本试点研究的目的是开发并评估一种基于理论且经过严格制定的方案，用于通过电话传达BRCA1/2（乳腺癌）检测结果，该方案可能适用于其他遗传性癌症和非癌症综合征的基因检测。
利用利益相关者数据、健康传播文献以及基于健康行为自我调节理论的理论模型，开发了一种用于传达BRCA¬1/2基因检测结果的电话沟通方案。通过对选定的结果告知环节录音带进行框架分析以及收集利益相关者的反馈，来评估该方案的有效性，并据此对方案进行完善。
利益相关者的反馈（n = 86）以及电话告知录音带（38%，33/86）显示出一些感知到的不利因素和挑战，包括环境因素（如非私密环境）、患者相关因素（如健康素养低）、检测相关因素（如需要额外检测）以及沟通因素（如缺乏视觉线索）。针对BRCA1/2检测结果沟通方案所做的修改包括明确患者说明、安排预约、优化视觉辅助工具、扩充结果告知清单项目以及加强医疗服务提供者培训。
对利益相关者的经验以及BRCA1/2检测结果电话告知录音带的分析，为沟通策略的修订以及一项方案提供了依据，该方案旨在利用电话传达基因检测结果时提高患者的受益程度。
