“应该有一个地方你可以去:”BRCA突变携带者对癌症风险管理和遗传癌症登记的看法。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-02-01 Epub Date: 2023-10-21 DOI:10.1007/s12687-023-00685-5
J Hynes, L Dawson, M Seal, J Green, M Woods, H Etchegary
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引用次数: 0

摘要

建议携带BRCA1或BRCA2致病性变体的个人进行广泛的癌症预防筛查和降低风险的手术。接受这些建议的情况各不相同,BRCA携带者的风险管理仍有改进的空间。本文探讨了女性BRCA携带者在当前护理模式下的经验,以及她们对遗传性癌症登记的看法(和兴趣)。研究结果可以为这些患者制定专门的高风险筛查和管理计划提供信息。通过省级描述性调查和半结构化定性访谈收集定量和定性数据,以评估BRCA携带者对加拿大纽芬兰和拉布拉多省风险管理服务的意见。调查(n=69)和访谈数据(n=15)揭示了当前高危人群护理系统的连续性和协调性挑战。受访者表示,癌症遗传登记将有助于识别高危人群,并为已识别的携带者提供集中的风险管理系统。受访者对其登记数据的隐私表示担忧,包括谁可以访问这些数据。研究结果表明,BRCA携带者认为遗传癌症登记具有很大价值。具体而言,与会者指出,它可以提供一个集中的系统,帮助改善繁重的终身风险管理的协调。必须在患者和公共信息以及关于登记处的知情同意文件中解决患者对保护其隐私和健康数据机密性的重要担忧。
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"There should be one spot that you can go:" BRCA mutation carriers' perspectives on cancer risk management and a hereditary cancer registry.

Individuals who carry BRCA1 or BRCA2 pathogenic variants are recommended to have extensive cancer prevention screening and risk-reducing surgeries. Uptake of these recommendations is variable, and there remains room for improvement in the risk management of BRCA carriers. This paper explores female BRCA carriers' experiences with the current model of care and their perspectives on (and interest in) an inherited cancer registry. Findings can inform the development of a dedicated high-risk screening and management program for these patients. Quantitative and qualitative data were gathered through a provincial descriptive survey and semi-structured qualitative interviews to assess BRCA carriers' opinions toward risk management services in the province of Newfoundland and Labrador (NL), Canada. Survey (n = 69) and interview data (n = 15) revealed continuity and coordination challenges with the current system of care of high-risk individuals. Respondents suggested an inherited cancer registry would help identify high-risk individuals and provide a centralized system of risk management for identified carriers. Respondents identified concerns about the privacy of their registry data, including who could access it. Findings suggest BRCA carriers see great value in an inherited cancer registry. Specifically, participants noted it could provide a centralized system to help improve the coordination of burdensome, life-long risk management. Important patient concerns about protecting their privacy and their health data confidentiality must be addressed in patient and public information and informed consent documents about a registry.

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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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