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突变的妇女有望通知其亲戚有关家庭的继承癌症的敏感性。这很重要，因为亲戚有50％的携带癌症的机会 - 引起基因，并可能有乳腺癌和其他癌症的风险。患者有时与遵循此建议的遗传咨询师 - 将其BRCA+身份转换给父母，成人兄弟姐妹和他们的其他成员。有证据表明有孩子的妇女也想通知她们关于母亲BRCA+遗传测试结果的女儿和儿子，但载体母亲通常在心理上是测试后苦恼，并难以导航其青少年的社会和医学影响和年轻人（aya）后代。这些母亲很常见在早期经历不确定性将BRCA+通知AYA，管理自己对家庭癌症的想法/感受并保持开放与亲戚的沟通线，而没有向自己的孩子“保持秘密”。虽然遗传咨询有助于这种决策和社会心理伯恩的各个方面，没有循证专门用于改善母亲的动画/沮丧，忧虑和自欺欺人和遍历的资源围绕BRCA+状态通知的复杂问题。为了应对这一差距，我们发展了并成功试行了一个全新的，完全手动的社会心理支持和家庭沟通决策为BRCA+母亲制定协议。我们的干预是理论上的，并且深入满足自我管理需求，遗传性癌症的压力和适合年龄的AYA的关注。按照标准的遗传咨询，它增加了3次简短的电话咨询。训练有素的同龄人（父母教练）也是BRCA+母亲本身。教练封面：a）母亲社会情感支持，b）沟通决策培训以及c）应对技能建设。我们将严格测试2臂RCT中的效率，以确定孕产妇心理功能的改善标准遗传咨询之后的父母与儿童交流结果。 Brca+母亲与Aya 女儿和儿子将从大型DC和Hackensack中的癌症基因测试中心招募。区域，随机分配到干预或通常的护理控制条件，并在治疗。我们的结果应提供有利影响该人群遗传咨询的证据结果，可融合的干预措施中毒了。同行支持可能是常规的乳腺癌社区一般，但它仍然是未经证实的治疗方法关心。基因检测的扩散以及适中的遗传咨询劳动力，必要的新利用这些和其他可访问资源的医疗保健交付模型。有针对性的同伴教练经验决策支持助手可能被证明是与BRCA+的遗传咨询工作的可行扩展母亲，以及在公共卫生环境中进行遗传性癌症预防和控制的完整方法。