何时告知以及由谁负责告知？一项关于健康专业人员对 BRCA 基因癌症风险披露看法的横断面定性研究。
When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals' views regarding disclosure of BRCA genetic cancer risk.
机构信息
The University of Sydney, Faculty of Science, School of Psychology, Centre for Medical Psychology & Evidence-based Decision-making (CeMPED), Sydney, New South Wales, Australia
Kids Cancer Centre, Sydney Children's Hospital Randwick, Sydney, New South Wales, Australia.
出版信息
BMJ Open. 2020 Feb 25;10(2):e033127. doi: 10.1136/bmjopen-2019-033127.
OBJECTIVES
Disclosure of a hereditary condition in the family poses notable challenges for patients who often seek the assistance of genetic health professionals (GHPs). This study aimed to investigate GHPs' opinions about the ideal time for disclosure to offspring and their responsibility to at-risk relatives.
DESIGN
Cross-sectional qualitative study.
SETTING
Genetic familial cancer clinics related to mostly secondary and tertiary care hospitals and centres in urban, regional and rural areas across all states of Australia.
PARTICIPANTS
GHPs (N=73) including clinical geneticists, genetic counsellors, medical specialists, nurses, surgeons and mental health specialists (eg, psychiatrists, psychologists) who had worked with and families for an average of 9 years.
RESULTS
Focus groups and interviews were transcribed and analysed thematically. GHPs perceived that life stage, maturity, parents' knowledge and capacity to disseminate information influenced parent-offspring disclosure. In general, GHPs recommended early informal conversations with offspring about a family illness. GHPs considered that facilitation of disclosure to relatives using counselling strategies was their responsibility, yet there were limitations to their role (eg, legal and resource constraints). Variability exists in the extent to which genetic clinics overcome challenges to disclosure.
CONCLUSIONS
GHPs' views on the ideal time for the disclosure of genetic risk are generally dependent on the patient's age and relative's ability to disclose information. A responsibility towards the patient and their at-risk relative was widely accepted as a role of a GHP but views vary depending on legislative and specialty differences. Greater uniformity is needed in genetic procedural guidelines and the role of each discipline (eg, geneticists, genetic counsellors, oncologists, nurses and mental health specialists) in genetic clinics to manage disclosure challenges.
目的
向患者披露家族遗传性疾病会带来显著挑战，而这些患者通常会寻求遗传健康专业人员（GHPs）的帮助。本研究旨在调查 GHPs 对向后代披露的理想时间以及对有风险亲属的责任的看法。
设计
横断面定性研究。
地点
与主要二级和三级保健医院以及澳大利亚所有州的城乡地区的中心相关的遗传家族癌症诊所。
参与者
GHPs（N=73），包括临床遗传学家、遗传咨询师、医学专家、护士、外科医生和心理健康专家（如精神科医生、心理学家），他们平均与 1 个家庭合作了 9 年。
结果
对焦点小组和访谈进行了转录和主题分析。GHPs 认为，生活阶段、成熟度、父母的知识和传播信息的能力会影响父母与子女之间的披露。一般来说，GHPs 建议与子女进行关于家庭疾病的早期非正式对话。GHPs 认为，使用咨询策略促进向亲属披露是他们的责任，但他们的角色存在局限性（例如，法律和资源限制）。遗传诊所克服披露挑战的程度存在差异。
结论
GHPs 对遗传风险披露的理想时间的看法通常取决于患者的年龄和亲属传播信息的能力。对患者及其有风险亲属的责任感得到了广泛认可，但由于立法和专业差异，观点各不相同。遗传程序指南和遗传诊所中每个学科（例如遗传学家、遗传咨询师、肿瘤学家、护士和心理健康专家）的角色需要更加统一，以管理披露挑战。
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