Improving Genetic Counseling for BRCA+ Mothers

改善 BRCA 母亲的遗传咨询

• 批准号: 10337055
• 负责人: BETH N PESHKIN
• 金额: $ 35.49万
• 依托单位: GEORGETOWN UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-01-02 至 2024-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10337055
• 关键词: Address; Adolescent and Young Adult; Adoption; Adult; Adult Children; Aftercare; Age; Ally; Anxiety; Area; Awareness; BRCA mutations; Behavior Therapy; Behavioral; Blood; Breast; Cancer Control; Caregivers; Caring; Child; Child Rearing; Clinical; Cognitive; Communication; Communities; Complex; Conflict (Psychology); Coping Skills; Counseling; Critical Care; Data; Daughter; Decision Making; Disclosure; Distress; Face; Family; Family history of; Feeling; Female Adolescents; Future; Gene Mutation; Genes; Genetic; Genetic Counseling; Goals; Guilt; Health; Healthy People 2020; Hereditary Malignant Neoplasm; Inherited; Intervention; Knowledge; Malignant Neoplasms; Malignant neoplasm of ovary; Mediating; Medical; Mental Depression; Modeling; Monitor; Mothers; Notification; Oncology; Operative Surgical Procedures; Outcome; Parents; Participant; Patients; Pilot Projects; Population Genetics; Predisposition; Prevention; Protocols documentation; Psychosocial Assessment and Care; Public Health; Public Health Practice; Randomized; Reporting; Resources; Risk; Self Efficacy; Self Management; Service delivery model; Siblings; Site; Son; Stress; Structure; Test Result; Testing; Thinking; Time; Training; Uncertainty; Well in self; Woman; Work; anticancer research; arm; base; brca gene; cancer genetics; cancer prevention; cancer risk; communication aid; communication behavior; coping; efficacy testing; evidence base; experience; genetic counselor; genetic information; genetic testing; genomic tools; health goals; high risk; improved; intergenerational; kindred; lifetime risk; malignant breast neoplasm; member; mutation carrier; peer; peer coaching; peer support; preference; prevent; psychological distress; psychosocial; randomized trial; recruit; response; screening; skills; social; standard care; telephone coaching; telephone session; treatment as usual

Women carrying deleterious BRCA mutations are expected to notify their relatives about the family's inherited cancer susceptibility. This is important because relatives have a 50% chance of harboring the same cancer- causing genes, and may themselves be at risk for breast and other cancers. Patients sometimes collaborate with a genetic counselor to follow this advice—disclosing their BRCA+ status to parents, adult siblings, and additional members of their kindred. Evidence suggests women with children also want to inform their daughters and sons about maternal BRCA+ genetic test results, but carrier mothers are often psychologically distressed after testing and have difficulty navigating the social and medical implications for their adolescent and young adult (AYA) offspring. It is common for these mothers to experience uncertainty over early notification of BRCA+ to AYAs, manage their own thoughts/feelings about familial cancer, and maintain open the lines of communication with relatives without `keeping secrets' from their own children. Although genetic counseling assists with aspects of this decisional and psychosocial burden, there are no evidence-based resources specifically devoted to ameliorating mothers' anxiety/depression, worry, and self-blame and traverse complex questions surrounding BRCA+ status notification to their AYAs. In response to this gap, we developed and successfully piloted a new, fully manualized psychosocial support and family communication decision making protocol for BRCA+ mothers with AYA children. Our intervention is theoretically-grounded, and deeply attends to self-management needs, hereditary cancer stresses, and age-appropriate AYA concerns. Following standard genetic counseling, it adds 3 sessions of brief telephone counseling delivered by well- trained peers (parent coaches) who are also BRCA+ mothers themselves. Coaching covers: a) maternal socioemotional support, b) communication decision making training, and c) coping skill-building. We will rigorously test for efficacy in a 2-arm RCT to determine improvements in maternal psychosocial functioning and parent-AYA child communication outcomes after standard genetic counseling. BRCA+ mothers with AYA daughters and sons will be recruited from cancer genetic testing centers in the greater DC and Hackensack, NJ areas, randomized to an intervention or usual care control condition, and monitored for up to 6 months post- treatment. Our results should provide evidence for favorably impacting this population's genetic counseling outcomes, with a disseminable intervention poised for adoption. Peer support may be conventional within the breast cancer community at-large, but it remains an unproven treatment ally in genetically informed oncology care. The proliferation of genetic tests, and the modest genetic counseling workforce, necessitate new healthcare delivery models that leverage these and other accessible resources. Targeted peer coaching with an empirical decision support aide could prove to be a viable extension of genetic counseling efforts with BRCA+ mothers, and a complementary approach to hereditary cancer prevention and control in public health settings.

携带有害的BRCA突变的妇女应该通知她们的亲属， 癌症易感性这一点很重要，因为亲属有50%的机会患有相同的癌症- 这些基因本身也可能有患乳腺癌和其他癌症的风险。患者有时会与 遗传咨询师遵循这一建议-向父母，成年兄弟姐妹， 他们家族的其他成员。有证据表明，有孩子的妇女也想告诉他们的孩子。 女儿和儿子关于母亲BRCA+基因检测结果，但携带者母亲往往心理上 在测试后感到沮丧，并且难以驾驭对青少年的社会和医疗影响 年轻人（年轻人）对于这些母亲来说，在早期经历不确定性是很常见的。 通知AYA BRCA+，管理他们自己对家族性癌症的想法/感受，并保持开放 与亲属的沟通渠道，而不对自己的子女“保守秘密”。虽然遗传 咨询协助这一决策和心理社会负担的方面，没有证据为基础的 专门用于改善母亲焦虑/抑郁、担忧、自责和苦恼的资源 关于BRCA+状态通知的复杂问题。为了解决这个问题，我们开发了 并成功地试行了一种新的、完全手动化的心理社会支持和家庭沟通决策， 为有AYA儿童的BRCA阳性母亲制定方案。我们的干预是有理论基础的， 深切关注自我管理的需要，遗传性癌症的压力，和年龄适当的AYA关注。 在标准的遗传咨询之后，它增加了3次简短的电话咨询， 受过培训的同龄人（父母教练），他们本身也是BRCA+母亲。辅导涵盖：a）产妇 社会情感支持，B）沟通决策培训，以及c）应对技能建设。我们将 在2组RCT中严格检验疗效，以确定母亲心理社会功能的改善 和标准遗传咨询后的父母-AYA儿童沟通结果。患有AYA的BRCA+母亲 女儿和儿子将从大华盛顿和新泽西州哈肯萨克的癌症基因检测中心招募 区域，随机分配到干预或常规护理对照条件，并在治疗后监测长达6个月。 治疗我们的研究结果应该为有利地影响这一人群的遗传咨询提供证据 成果，并准备采取可传播的干预措施。同伴的支持可能是传统的， 但它仍然是遗传信息肿瘤学中未经证实的治疗盟友 在乎基因检测的扩散，以及适度的遗传咨询工作人员，需要新的 利用这些和其他可访问资源的医疗保健提供模式。有针对性的同伴辅导， 经验性决策支持助手可能被证明是BRCA+遗传咨询工作的可行延伸 母亲，以及在公共卫生环境中预防和控制遗传性癌症的补充方法。