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公众对医疗保健专业人员指导下的遗传性基因风险沟通的看法:一项混合方法的系统评价

Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review.

作者信息

Godino Lea, Turchetti Daniela, Gentili Vanessa, Chiari Paolo, Palese Alvisa

机构信息

Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.

出版信息

Eur J Hum Genet. 2025 Feb 3. doi: 10.1038/s41431-025-01790-4.

Abstract

Genetic testing has revolutionized the identification of individuals at increased risk for various hereditary conditions, enabling early intervention and preventive measures. However, effective cascade counseling and testing depends on successful intra-familial communication. This mixed-method systematic review aimed to explore the general population's perspectives and preferences regarding the communication of potential genetic risk information by healthcare professionals. This study adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and was registered in the International Prospective Register of Systematic Reviews database (CRD42024532829). A comprehensive search of six databases yielded 17,292 records. After removing duplicates and screening for relevance, nine studies were included in the final analysis, conducted across diverse Western countries using both qualitative and quantitative designs. Results indicated a preference for healthcare-mediated communication, particularly through formal methods as letters, valued for their clarity and reliability. The role of family-mediated communication is nuanced, influenced by interpersonal relationship quality and the emotional burden of disclosing sensitive information. Ethical and legal considerations highlighted public support for overriding confidentiality in treatable conditions, while emphasizing respect for individual privacy and autonomy in untreatable conditions. This review underscores the importance of understanding public preferences to develop tailored communication strategies that balance professional involvement with respect for individual and familial dynamics. Healthcare professionals should be trained to provide empathetic, clear, and accurate information, considering the specific needs and contexts of at-risk individuals.

摘要

基因检测彻底改变了对患各种遗传性疾病风险增加的个体的识别方式,使早期干预和预防措施成为可能。然而,有效的级联咨询和检测取决于家族内部成功的沟通。这项混合方法的系统评价旨在探讨普通人群对医疗保健专业人员传达潜在基因风险信息的看法和偏好。本研究遵循系统评价和Meta分析的首选报告项目指南,并在国际前瞻性系统评价注册数据库(CRD42024532829)中注册。对六个数据库进行全面检索后得到17292条记录。在去除重复记录并筛选相关性后,最终分析纳入了九项研究,这些研究在不同的西方国家采用定性和定量设计进行。结果表明,人们更倾向于由医疗保健机构介导的沟通,特别是通过信件等正式方式,因其清晰性和可靠性而受到重视。家庭介导的沟通作用较为微妙,受到人际关系质量和披露敏感信息的情感负担的影响。伦理和法律考量凸显了公众对在可治疗情况下 overriding confidentiality(此处原文可能有误,推测为“突破保密限制”)的支持,同时强调在不可治疗情况下尊重个人隐私和自主权。本综述强调了了解公众偏好以制定量身定制的沟通策略的重要性,这些策略要在专业参与与尊重个人和家庭动态之间取得平衡。医疗保健专业人员应接受培训,以提供富有同理心、清晰准确的信息,同时考虑到高危个体的具体需求和背景。

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