Young Women From BRCA1/2 Families: A Family History And A Future

描述(申请人提供)：BRCA1/2突变携带者患HBOC的几率极高，他们的一级和二级亲属可能也是如此。指南建议，这些年轻亲属的BRCA1/2检测不应在18岁之前开始，因为医疗益处有限，而且可能造成心理社会伤害。相比之下，建议对25岁以上的女性进行检测，作为护理的标准。对18-25岁的女性进行测试是一个临床难题。在这么年轻的时候进行检测，可以提供明确的遗传风险信息，从而有机会对生命规划采取积极的立场。然而，在这个年龄段，风险管理策略伴随着明显的劣势。其中包括30岁之前的携带者与乳房X光检查相关的乳腺癌风险增加。年轻女性面临着这些优势和劣势，她们的决策经验和决策过程有限，比年长的女性更容易产生情感偏见。我们正在与提供者进行的定性工作表明，这些情感和发展因素使咨询这些女性变得独特和具有挑战性。本申请解决了这些年轻女性和她们的提供者面临的临床困境。在遗传易损性理论的指导下，我们将利用我们的癌症基因登记和临床研究计划，对18-25岁的女性进行混合方法研究，她们的一级或二级亲属是BRCA1/2携带者。我们的资源包含了关于我们大量具有已知突变的女性和男性(“索引携带者”)的特征良好的数据。这些数据不仅包括关于测试年龄、受影响状态和风险管理决策的数据，还包括诸如痛苦等心理社会数据。我们将把这些二次数据与从年轻女性亲属那里收集的新的主要数据结合起来，以评估与她们进行测试的可能性相关的变量。在第一阶段，我们将使用这些定量数据来评估年轻女性癌症家族史与癌症相关情绪和对她进行测试的可能性的认知之间的关系。我们还将评估指数载体的心理社会功能和健康行为对这种关系的中介作用。在第二阶段，我们将在我们的定量工作之后，对20名接受测试的女性和她们的医生进行定性访谈。这些访谈将使我们能够从接受检测的年轻女性及其提供者的角度，确定收到基因检测结果如何影响HBOC年轻女性亲属的发展和医疗保健的心理社会任务。我们的工作将允许有针对性地在这一人群中进行患者教育和咨询。

DESCRIPTION (provided by applicant): BRCA1/2 mutation carriers have highly elevated odds of developing HBOC, as may their first- and second- degree relatives. Guidelines suggest that BRCA1/2 testing for these young relatives should not begin before age 18 due to limited medical benefit and potential psychosocial harm. In contrast, testing for women over age 25 is recommended as standard of care. Testing for women aged 18-25 presents a clinical dilemma. Testing at this young age could offer the advantage of providing definitive genetic risk information, allowing the opportunity to take a proactive stance to life planning. However, risk management strategies come with distinct disadvantages at this age. These include an increase of breast cancer risk associated with mammography in carriers prior to age 30. Young women face these advantages and disadvantages with limited decision making experience and decision processes that are more prone to affective biases than their older counterparts. Our ongoing qualitative work with providers suggests these emotional and developmental factors make counseling these women unique and challenging. The present application addresses the clinical dilemma that faces these young women and their providers. Guided by the Theory of Genetic Vulnerability, we will leverage our cancer genetic registry and clinical research program in a mixed-methods study of women age 18-25 with a first- or second-degree relative who is a BRCA1/2 carrier. Our resources contain well-characterized data about our large cohort of women and men with a known mutation ("index carrier"). These data include not only data regarding age of testing, affected status, and risk management decisions, but also psychosocial data such as distress. We will combine these secondary data with new primary data collected from young female relatives to assess variables associated with their likelihood to test. In Phase I, we will use these quantitative data to assess the relationship between a young woman's cancer family history and cancer-related emotions and cognitions on her likelihood to test. We also will assess the mediational effects of index carrier's psychosocial functioning and health behaviors on this relationship. In Phase II, we will follow our quantitative work with qualitative interviews of 20 tested women and their physicians. These interviews will allow us to determine how receipt of a genetic test result affects the psychosocial tasks of development and medical care of young female HBOC relatives from the perspective of tested young women and their providers. Our work would allow for targeted approaches to patient education and counseling in this population.