Burke Kimberly, Dawson Lesa, Hodgkinson Kathleen, Wilson Brenda J, Etchegary Holly
Faculty of Medicine, Division of Community Health and Humanities, Memorial University, St. John's, NL, Canada.
Faculty of Medicine, Discipline of Obstetrics and Gynecology, Memorial University, St. John's, NL, Canada.
J Community Genet. 2024 Aug;15(4):387-400. doi: 10.1007/s12687-024-00720-z. Epub 2024 Jul 24.
Individuals affected with cancer predisposition (CPS) syndromes such as BRCA1, BRCA2 or Lynch syndrome (LS) are at an elevated risk of multiple cancers. Identifying high-risk individuals is important if they are to access risk-reducing strategies. Interventions such as risk-reducing salpingo-oophorectomy in carriers of BRCA pathogenic or likely pathogenic (P/LP) variants or regular colonoscopy for carriers of LS P/LP variants are highly effective and reduce mortality. Despite clear evidence that the identification of at-risk relatives has value, the uptake of cascade testing remains at approximately 50%. It is important to understand strategies and barriers to testing to facilitate communication in families identified as haveing a hereditary cancer syndrome, to improve uptake of counselling and testing.
A national online survey of both Canadian probands (the first member in a family to have genetic testing and who were variant positive, regardless of a cancer diagnosis) and their at-risk relatives. Respondents were individuals affected with hereditary breast and ovarian cancer (HBOC) and LS. The survey was constructed based on a review of the literature and authors' feedback. Both open and closed-ended questions were used for items on demographic characteristics, risk perception, genetic test results and cancer diagnosis. Items on experiences with hereditary cancer risk communication, communication challenges, preferences and supports required were explored using a 5-point Likert scale.
Responses indicated a high level of acceptance for the proband's direct involvement in family communication with the support of a health care provider (67% among the probands given a family letter and 55-57% among those who were not given a family letter). Respondents without a personal history of cancer were more likely to endorse a health care professional's help with family communication compared to those with a personal history of cancer (p = 0.031). Preferences for family member outreach also varied by education level, annual income, marital status and geographic location. Similarities were noted between the probands and relatives on communication outreach preferences.
While the family-mediated approach to communication remains the standard across many cancer genetics programs, participants note that additional support is necessary for dissemination of result information among relatives. Because family dynamics and communication vary widely, alternative options that retain the probands' involvement in family communication but add support from a health care provider should be explored.
患有癌症易感性（CPS）综合征（如BRCA1、BRCA2或林奇综合征（LS））的个体患多种癌症的风险较高。如果高危个体要采用降低风险的策略，识别他们就很重要。诸如对携带BRCA致病或可能致病（P/LP）变异的个体进行降低风险的输卵管卵巢切除术，或对携带LS P/LP变异的个体进行定期结肠镜检查等干预措施非常有效，可降低死亡率。尽管有明确证据表明识别高危亲属有价值，但级联检测的接受率仍约为50%。了解检测的策略和障碍，对于促进在被确定患有遗传性癌症综合征的家庭中进行沟通、提高咨询和检测的接受率很重要。
对加拿大的先证者（家族中第一个进行基因检测且检测结果为变异阳性的成员，无论其是否患有癌症）及其高危亲属进行全国性在线调查。受访者为患有遗传性乳腺癌和卵巢癌（HBOC）及LS的个体。该调查是在文献综述和作者反馈的基础上构建的。关于人口统计学特征、风险认知、基因检测结果和癌症诊断的项目，同时使用了开放式和封闭式问题。关于遗传性癌症风险沟通的经历、沟通挑战、偏好及所需支持的项目，采用5点李克特量表进行探究。
调查结果表明，在先证者在医疗保健提供者的支持下直接参与家庭沟通方面，接受程度较高（收到家庭信件的先证者中有67%，未收到家庭信件的先证者中有55 - 57%）。与有个人癌症病史的受访者相比，没有个人癌症病史的受访者更有可能认可医疗保健专业人员在家庭沟通方面提供的帮助（p = 0.031）。家庭成员外展的偏好也因教育水平、年收入、婚姻状况和地理位置而有所不同。在先证者和亲属的沟通外展偏好方面发现了相似之处。
虽然家庭介导的沟通方法在许多癌症遗传学项目中仍然是标准做法，但参与者指出，在亲属中传播结果信息还需要额外的支持。由于家庭动态和沟通差异很大，应探索一些替代方案，这些方案既能让先证者参与家庭沟通，又能增加医疗保健提供者的支持。
