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与乳腺癌和卵巢癌患者沟通基因检测:范围综述。

Communication about genetic testing with breast and ovarian cancer patients: a scoping review.

机构信息

Graduate School of Health, University of Technology Sydney, PO Box 123, Broadway, NSW, 2007, Australia.

Department of Clinical, Education and Health Psychology, University College London, 1-19 Torrington Place, London, WC1E 7HB, UK.

出版信息

Eur J Hum Genet. 2019 Apr;27(4):511-524. doi: 10.1038/s41431-018-0310-4. Epub 2018 Dec 20.

Abstract

Genetic testing of patients with cancer is increasingly offered to guide management, resulting in a growing need for oncology health professionals to communicate genetics information and facilitate informed decision-making in a short time frame. This scoping review aimed to map and synthesise what is known about health professionals' communication about genetic testing for hereditary breast and ovarian cancer with cancer patients. Four databases were systematically searched using a recognised scoping review method. Areas and types of research were mapped and a narrative synthesis of the findings was undertaken. Twenty-nine papers from 25 studies were included. Studies were identified about (i) information needs, (ii) process and content of genetic counselling, (iii) cognitive and emotional impact, including risk perception and recall, understanding and interpretation of genetic test results, and anxiety and distress, (iv) patients' experiences, (v) communication shortly after diagnosis and (vi) alternatives to face-to-face genetic counselling. Patients' need for cancer-focused, personalised information is not always met by genetic counselling. Genetic counselling tends to focus on biomedical information at the expense of psychological support. For most patients, knowledge is increased and anxiety is not raised by pre-test communication. However, some patients experience anxiety and distress when results are disclosed, particularly those tested shortly after diagnosis who are unprepared or unsupported. For many patients, pre-test communication by methods other than face-to-face genetic counselling is acceptable. Research is needed to identify patients who may benefit from genetic counselling and support and to investigate communication about hereditary breast and ovarian cancer by oncology health professionals.

摘要

癌症患者的基因检测越来越多地被用来指导治疗决策,这就使得肿瘤学专业医疗人员需要在短时间内沟通遗传信息并促进患者知情决策,因此对他们的沟通能力提出了更高的要求。本系统评价旨在绘制并综合分析目前已知的关于肿瘤学专业医疗人员与癌症患者就遗传性乳腺癌和卵巢癌的基因检测进行沟通的相关信息。采用一种已被认可的系统评价方法,我们对四个数据库进行了系统性检索。对研究的领域和类型进行了绘制,并对研究结果进行了叙述性综合分析。共纳入了 25 项研究的 29 篇论文。这些研究涉及:(i)信息需求;(ii)遗传咨询的过程和内容;(iii)认知和情感影响,包括风险感知和回忆、对遗传检测结果的理解和解释、焦虑和困扰;(iv)患者体验;(v)诊断后不久的沟通;(vi)替代面对面遗传咨询的方法。患者对以癌症为重点、个性化信息的需求并不总是能从遗传咨询中得到满足。遗传咨询往往侧重于生物医学信息,而忽略了心理支持。对于大多数患者来说,预检测沟通不会增加他们的焦虑感,但会增加他们的知识。然而,当结果公布时,一些患者会感到焦虑和困扰,尤其是那些在诊断后不久未经准备或未得到支持就接受检测的患者。对于许多患者来说,通过面对面遗传咨询以外的方法进行预检测沟通是可以接受的。需要研究确定哪些患者可能从遗传咨询和支持中受益,并研究肿瘤学专业医疗人员对遗传性乳腺癌和卵巢癌的沟通。

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