Improving Genetic Counseling for BRCA+ Mothers

改善 BRCA 母亲的遗传咨询

• 批准号: 10079017
• 负责人: BETH N PESHKIN
• 金额: $ 36.22万
• 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/10079017
• 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; Telephone; 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; 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家族遗传的情况 癌症易感性。这一点很重要，因为亲属患上同样的癌症的可能性为50%。 导致基因，本身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、成年兄弟姐妹和 他们的亲属中的其他成员。有证据表明，有孩子的女性也希望告知她们的 女儿和儿子对母亲BRCA+基因检测结果的了解，但携带者母亲往往心理上 在测试后感到苦恼，难以领会青少年的社会和医学影响 和年轻的成年(Aya)后代。对于这些母亲来说，早早经历不确定是很常见的 将BRCA+通知给AYA，管理自己对家族性癌症的想法/感受，并保持开放 与亲人的沟通渠道，而不对自己的孩子“保守秘密”。虽然基因 咨询帮助这种决策和心理社会负担的方面，没有基于证据的 专门用于改善母亲焦虑/抑郁、担心、自责和自责的资源 围绕BRCA+向其AYA发送状态通知的复杂问题。为了应对这一差距，我们开发了 并成功地试行了一项新的、完全人性化的心理社会支持和家庭沟通决策 为BRCA+有Aya孩子的母亲制定方案。我们的干预是有理论依据的，而且 深入关注自我管理需求、遗传性癌症压力和与年龄相适应的Aya问题。 继标准的遗传咨询之后，它增加了由Well-Well提供的3次简短的电话咨询 训练有素的同龄人(家长教练)，他们本身也是BRCA+母亲。辅导范围：a)产妇 社会情感支持，b)沟通决策培训，c)应对技能建设。我们会 严格测试双臂随机对照试验的有效性，以确定母亲心理社会功能的改善 以及标准遗传咨询后的亲子沟通结果。BRCA+患有Aya的母亲 女儿和儿子将从新泽西州大哥伦比亚特区和哈肯萨克的癌症基因检测中心招募 地区，随机到干预或通常护理控制条件，并监测长达6个月后- 治疗。我们的结果应该为有利地影响这一人群的遗传咨询提供证据 结果，并准备采用可传播的干预措施。同行支持可能是传统的 广泛的乳腺癌社区，但在基因信息肿瘤学中，它仍然是一个未经证实的治疗盟友 关心。基因测试的激增，以及适度的遗传咨询劳动力，需要新的 利用这些资源和其他可访问资源的医疗保健提供模式。通过有针对性的同行辅导 经验性决策支持助手可能被证明是BRCA+遗传咨询努力的可行扩展 在公共卫生环境中对遗传性癌症的预防和控制采取一种补充办法。