Werner-Lin Allison, Ratner Rachel, Hoskins Lindsey M, Lieber Caroline
School of Social Policy and Practice, University of Pennsylvania, 3701 Locust Walk, Philadelphia, PA, 19104, USA,
J Genet Couns. 2015 Feb;24(1):78-87. doi: 10.1007/s10897-014-9739-y. Epub 2014 Jul 12.
As a result of modern treatments, the life of women who test positive for BRCA mutations may be plotted along the arc of preventive medicine rather than the slope of diagnostics. Despite evidence supporting the benefits of risk reduction, protocols for early detection and prevention among women from families affected by hereditary breast and ovarian cancer (HBOC) are not yet proven, and clinical trials have not been undertaken for patients aged 18 to 25. The absence of psychosocial data may leave genetic counselors without uniform guidance on how to manage the care of these patients. This project sought to investigate perspectives on counseling 18-25 year-old patients from families with hereditary cancer syndromes, with specific emphasis on HBOC, given their unique developmental, familial, and medical challenges. Certified genetic counselors were recruited through the NSGC's Cancer Genetics Special Interest Group listserv. Researchers constructed an online survey which included 41 items and elicited information about: counselor demographics, training, and practice settings; approaches to cancer risk assessment; and common challenges in work with 18- to 25-year-old patients. The survey was also informed by previous work by researchers with 18 to 25-year-olds with BRCA gene mutations. Eighty-six surveys were completed. Researchers used a combination of grounded theory and content analysis for open-ended responses, supported and triangulated with statistical analysis to maximize the interpretation of data. Genetic counselors who responded to this survey experience 18-25 year old patients presenting for cancer risk assessment differently than older patients, and some reported adapting their counseling style to address these differences. Respondents differed in the extent to which they felt well-versed in the developmental needs of patients in this age group. Respondents aged 39 and under reported feeling familiar with this stage in life, having more recently completed it; respondents aged 40 and over reported they were less familiar with, and more interested in learning about, this age group. A primary challenge in cancer risk assessment of these patients, reported primarily by counselors aged 39 and under, is navigating family dynamics in counseling sessions and addressing the developmentally labile young adult. With respect to BRCA-related cancer risk, where penetrance is incomplete, onset in early adulthood is rare. Evidence-based treatment/prevention options exist, but providers may not have clarity regarding how or when to provide directive counsel. A rich understanding of the themes inherent in how people grow and change over time might enhance the counselor's capacity to assess patients and their family members. The integration of a developmental approach to genetic counseling has the potential to reduce the imperative for non-directive counseling.
由于现代治疗手段,携带BRCA基因突变且检测呈阳性的女性的生命轨迹可能遵循预防医学的弧线,而非诊断学的斜率。尽管有证据支持降低风险的益处,但针对遗传性乳腺癌和卵巢癌(HBOC)家族中女性的早期检测和预防方案尚未得到证实,并且尚未对18至25岁的患者进行临床试验。缺乏社会心理数据可能使遗传咨询师在如何管理这些患者的护理方面缺乏统一的指导。鉴于18至25岁患者面临独特的发育、家庭和医疗挑战,本项目旨在调查对来自遗传性癌症综合征家族的该年龄段患者进行咨询的观点,特别关注HBOC。通过美国国家遗传咨询师协会(NSGC)癌症遗传学特别兴趣小组的邮件列表招募了认证遗传咨询师。研究人员构建了一项包含41个项目的在线调查,以获取有关以下方面的信息:咨询师的人口统计学特征、培训和执业环境;癌症风险评估方法;以及与18至25岁患者工作中的常见挑战。该调查还参考了研究人员此前对携带BRCA基因突变的18至25岁人群的研究工作。共完成了86份调查问卷。研究人员对开放式回答采用扎根理论和内容分析相结合的方法,并辅以统计分析进行支持和验证,以最大限度地解读数据。回复此调查的遗传咨询师发现,18至25岁前来进行癌症风险评估的患者与年长患者不同,一些人报告说他们调整了咨询方式以应对这些差异。受访者在他们认为自己对该年龄组患者的发育需求了解程度上存在差异。39岁及以下的受访者表示熟悉这个人生阶段,因为他们自己最近才经历过;40岁及以上的受访者表示他们对这个年龄组不太熟悉,但更有兴趣了解。主要由39岁及以下的咨询师报告的对这些患者进行癌症风险评估的一个主要挑战是在咨询过程中处理家庭动态以及应对发育不稳定的年轻成年人。关于BRCA相关的癌症风险,由于外显率不完全,在成年早期发病的情况很少见。存在基于证据的治疗/预防选择,但提供者可能不清楚如何或何时提供指导性咨询。深入理解人们随着时间推移成长和变化所固有的主题,可能会增强咨询师评估患者及其家庭成员的能力。将发展方法整合到遗传咨询中有可能减少非指导性咨询的必要性。