Dyadic Influence in Genomic Medicine: Couples' Beliefs, Disclosures, & Wellbeing

描述（由申请人提供）：基因组医学一方面具有在实际发作之前预测潜在衰弱性疾病的能力;另一方面，它为患者确定如何评估不确定性和发生基因组相关成人发病性疾病的风险带来了挑战。如果成年人在进行基因测试时已婚，他们可能会与配偶讨论测试结果，并共同决定未来的行动，例如向他人披露基因测试结果;他们的配偶也可能会受到这些讨论和决定的影响。这个项目，然后，提供了深入了解基因测试的社会影响。 目前关于配偶对基因检测的讨论的研究集中在无症状的成年人身上，他们考虑到自己未来的疾病风险或对子女的遗传影响。在这个个性化医疗时代，基因检测越来越多地与传统诊断相结合。例如，当成年人出现呼吸急促或喘息等症状时，诊断工作可能包括筛查慢性感染，沿着评估患者基因型以确定α-1抗胰蛋白酶缺乏症（AATD）的风险。AATD符合一类遗传性疾病，其中临床发作是在成年期，发展的可能性是可变的，治疗和/或生活方式改变可以改变临床疾病的发作或进展。其他符合这一类别的条件是与乳腺癌相关的BRCA 1/2突变。患有严重慢性病的成年人可能会发现他们的AOMC存在遗传风险。通过关注夫妇对AATD检测结果的沟通，我们可以揭示夫妇面临的疾病和关系挑战，以及有症状和无症状的情况如何影响这两个领域的管理。 在这个项目中，我们测试了一个基因组/遗传医学决策（GMD）的理论模型，该模型形式化了配偶对遗传学的信念如何预测（a）他们关于遗传信息的夫妻内沟通，（B）他们分享什么信息以及与谁分享，以及（c）患者和配偶的整体健康和保护行为。到目前为止，在GMD夫妇的信念和夫妇内的影响的相互依存关系一直没有检查。通过收集来自配偶双方的信息，我们可以确定GMD中的自我，人际和夫妻层面的影响。 被诊断患有AATD的人及其配偶与Alpha-1 Research Registry合作进行了调查。拟议的工作将使用定量技术来分析拟议的GMD模型与这些数据的拟合程度，以便根据他们的遗传信念，对话模式和幸福感来识别夫妇的子群体。该理论和小组的研究结果将用于与支持机构一起开发有针对性的材料，以支持管理基因检测结果的夫妇。未来的R 01项目将通过网站部署来测试这些有针对性的材料，包括预曝光，为夫妇提供在线测验，以便他们可以访问相关材料。

DESCRIPTION (provided by applicant): Genomic medicine has, on one hand, the power to predict potentially debilitating disease before its actual onset; on the other hand, it creates challenges for patients in determining how to assess uncertainty and the risk of developing genomic-related adult-onset medical conditions. If adults are married when genetic testing occurs, they may discuss the test results with their spouses and decide on future actions together, such as disclosing the genetic test results to others; their spouses may also be affected by these discussions and decisions. This project, then, provides insights into the social implications of genetic tests. Current research on spousal discussions of genetic tests focuses on asymptomatic adults considering risks of future conditions for themselves or genetic implications for their children. In this era of personalized medicine, genetic tests are increasingy included with traditional diagnostics. For example, when adults present with symptoms such as shortness of breath or wheezing, diagnostic efforts may include screening for chronic infections, along with evaluation of patient genotype to establish risk for Alpha-1 antitrypsin deficiency (AATD). AATD fits into a class of genetic conditions in which clinical onset is in adulthood, likelihood of development is variable, and treatment and/or lifestyle modification can alter the onset or progression of clinical conditions. Other conditions fitting into this category are BRCA 1/2 mutations associated with breast cancers. Adults managing serious chronic illnesses may discover they have a genetic risk for their AOMC. By focusing on couples' communication about AATD test results, we can reveal illness and relational challenges faced by couples and how symptomatic and asymptomatic scenarios may influence management in both realms. In this project, we test a theoretical model for genomic/genetic medical decision-making (GMD) that formalizes how spouses' beliefs about genetics predict (a) their within-couple communication about the genetic information, (b) what information they share and with whom, and (c) patients' and spouses' overall wellbeing and protective behaviors. To date, the interdependence in couples' beliefs and within-couple influences in GMD has been unexamined. By gathering information from both spouses, we can identify intrapersonal, interpersonal, and couple-level influences in GMD. Persons diagnosed with AATD and their spouses have been surveyed in collaboration with the Alpha-1 Research Registry. The proposed work will use quantitative techniques to analyze how well the proposed GMD model fits these data, in order to identify sub-groups of couples based on their genetic beliefs, conversation patterns, and wellbeing. The theory and sub-group findings will be used to develop targeted materials with support agencies to support couples managing genetic test results. A future R01 project will test these targeted materials through website deployment, including a pre-exposure, online quiz for couples so they can access relevant materials for them.