Hoskins Lindsey M, Werner-Lin Allison
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
J Genet Couns. 2013 Feb;22(1):27-38. doi: 10.1007/s10897-012-9521-y. Epub 2012 Aug 3.
Much of the extant literature addressing the psychosocial aspects of BRCA1/2 mutation testing and risk management aggregates mutation carriers of all ages in study recruitment, data analysis, and interpretation. This analytic strategy does not adequately address the needs of the youngest genetic testing consumers, i.e., women aged 18-25. Despite low absolute cancer risk estimates before age 30, BRCA1/2 mutation-positive women aged 18-25 feel vulnerable to a cancer diagnosis but find themselves in a management quandary because the clinical utility of screening and prevention options are not yet well defined for such young carriers. We present three cases, selected from a larger study of 32 BRCA1/2 mutation-positive women who completed or considered genetic testing before age 25, to demonstrate the unique developmental, relational and temporal influences, as well as the challenges, experienced by very young BRCA mutation-positive women as they complete genetic testing and initiate cancer risk management. The first case describes the maturation of a young woman whose family participated in a national cancer registry. The second addresses the experiences and expectations of a young woman who completed genetic testing after learning that her unaffected father was a mutation carrier. The third case highlights the experiences of a young woman parentally bereaved in childhood, who presented for genetic counseling and testing due to intense family pressure. Together, these cases suggest that BRCA1/2-positive women aged 18-25 are challenged to reconcile their burgeoning independence from their families with risk-related support needs. Loved ones acting in ways meant to care for these young women may inadvertently apply pressure, convoluting family support dynamics and autonomous decision-making. Ongoing support from competent healthcare professionals will enable these young women to remain informed and receive objective counsel about their risk-management decisions.
现有许多文献探讨了BRCA1/2基因突变检测及风险管理的社会心理层面，这些文献在研究招募、数据分析及解读过程中，将所有年龄段的突变携带者归为一类。这种分析策略未能充分满足最年轻的基因检测人群的需求，即18至25岁的女性。尽管30岁前的绝对癌症风险估计值较低，但18至25岁的BRCA1/2基因突变阳性女性仍感到自己易患癌症，然而她们却陷入了管理困境，因为针对如此年轻的携带者，筛查和预防措施的临床效用尚未明确界定。我们从一项对32名在25岁之前完成或考虑进行基因检测的BRCA1/2基因突变阳性女性的更大规模研究中选取了三个案例，以展示非常年轻的BRCA基因突变阳性女性在完成基因检测并开始癌症风险管理时所经历的独特的发育、人际关系和时间影响，以及挑战。第一个案例描述了一名年轻女性的成长过程，其家族参与了一个国家癌症登记处。第二个案例讲述了一名年轻女性在得知未受影响的父亲是突变携带者后完成基因检测的经历和期望。第三个案例强调了一名童年丧亲的年轻女性的经历，她因家庭的巨大压力而前来接受遗传咨询和检测。这些案例共同表明，18至25岁的BRCA1/2基因突变阳性女性面临着如何在逐渐摆脱家庭束缚的同时，满足与风险相关的支持需求的挑战。亲人出于关爱这些年轻女性的方式可能会无意中施加压力，使家庭支持动态和自主决策变得复杂。来自专业医疗保健人员的持续支持将使这些年轻女性能够了解相关信息，并就其风险管理决策获得客观的建议。
