Improving Genetic Counseling for BRCA+ Mothers

改善 BRCA 母亲的遗传咨询

基本信息

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
项目类别：
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

项目摘要

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 BRCA 突变的女性应将家族遗传信息告知其亲属这很重要，因为亲属有 50% 的机会患有相同的癌症 - 导致基因，并且患者本身可能面临乳腺癌和其他癌症的风险。遗传咨询师遵循此建议——向父母、成年兄弟姐妹披露他们的 BRCA+ 状态其他证据表明，有孩子的妇女也想告知她们的情况。女儿和儿子对母亲 BRCA+ 基因检测结果很关心，但携带者母亲往往在心理上检测后感到苦恼，难以应对其对青少年的社会和医学影响这些母亲在早期经历不确定性是很常见的。向 AYA 通报 BRCA+，管理他们自己对家族癌症的想法/感受，并保持开放尽管遗传，但与亲戚的沟通渠道不会对自己的孩子“保守秘密”。心理咨询有助于减轻这种决策和社会负担的各个方面，但没有基于证据的证据专门用于缓解母亲焦虑/抑郁、担心、自责和困扰的资源围绕向其 AYA 发出 BRCA+ 状态通知的复杂问题，我们制定了针对这一差距的解决方案。并成功试点了一种新的、完全手动的社会支持和家庭沟通决策为患有 AYA 孩子的 BRCA+ 母亲制定方案我们的干预是有理论根据的，并且深入关注自我管理需求、遗传性癌症压力和适合年龄的 AYA 问题。在标准遗传咨询之后，它增加了 3 次简短的电话咨询，由良好的专家提供。受过培训的同伴（家长教练）本身也是 BRCA+ 母亲。教练涵盖： a) 母亲。社会情感支持，b) 沟通决策培训，以及 c) 应对技能培养。严格测试 2 组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患有 AYA 的 BRCA+ 母亲接受标准遗传咨询后父母与 AYA 儿童的沟通结果。女儿和儿子将从大华盛顿特区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控制条件，并在治疗后长达 6 个月进行监测我们的研究结果应该提供证据，证明对这一人群的遗传咨询有有利的影响。成果，并准备采用可传播的干预措施，这在同行支持中可能是常规做法。乳腺癌界普遍存在，但它仍然是遗传肿瘤学中未经证实的治疗盟友基因检测的普及和遗传咨询人员的数量有限，需要新的护理。利用这些资源和其他可用资源的医疗保健提供模式。经验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，以及公共卫生环境中遗传性癌症预防和控制的补充方法。