Interventions in Genetic Counseling

在过去的一年里，遗传服务研究股完成了几项遗传咨询相关研究的调查： 双相情感障碍是一种由遗传和环境因素引起的病因复杂的疾病，影响着1%-2%的人口。一项关于双相情感障碍的研究旨在了解适应双相情感障碍的成年人中应对的作用以及儿童情绪障碍的风险。方法：从支持/倡导组织招募成年人完成一项基于网络的调查。符合条件的参与者报告患有双相情感障碍，且未受影响的儿童年龄在31岁以下。测量的调查量表：疾病感知、乐观、应对、适应、儿童风险感知和应对儿童风险。我们的结果发现，与其他患有慢性病的成年人相比，参与者对自己的病情适应能力较差。一个孩子的风险与对一个诊断的信心(R=0.167，p=0.014)、支持遗传病因(R=0-344，p&lt；0.001)以及家庭中有更多受影响的个人(R=0.138，p=0.049)相关。父母适应的多元线性回归包括应对和乐观，可解释55.9%的变异(F=73.17p&lt；0.001)。父母应对方式的多元线性回归包括对诊断的信心和对双相情感障碍的应对，解释了10%的变异(F=9.27，p&lt；0.001)。有效的应对策略(积极的、社会的)可能导致对双相情感障碍的更大适应，并有助于应对儿童面临的风险。对自己诊断的信心会影响父母对自己孩子的风险感知和应对感知的风险。实践影响：旨在增加对双相情感障碍的积极和社会应对的临床干预措施预计将导致对儿童的更大适应和更有效地应对感知到的风险。 另一项针对孩子患有未确诊疾病的父母的研究探索了不确定性的作用。不确定是疾病的普遍特征。然而，人们对导致不确定性认知的个人或情景因素知之甚少。这项研究的目的是调查导致一名患有未确诊疾病的儿童的父母感知不确定性的因素。在这项研究中，266名受未确诊疾病影响至少两年的孩子的父母完成了一项电子管理调查，评估感知不确定性的理论预测因素。使用多元线性回归分析来确定关键变量与感知不确定性的关系。父母的控制感和乐观感与不确定感呈负相关(B=-1.642，p&lt；0.001，B=-0.300)。主观疾病严重程度与感知的不确定性呈正相关(B=1.388，p#8804；0.001)。控制感与两个领域的不确定性负相关(模糊性，p&lt；0.001；缺乏清晰度，p&lt；0.001)。我们的发现表明，当父母经历更多的不确定性时，他们感到控制力较弱，这可能会导致更有效的应对和更差的适应能力。父母感觉到最大不确定性的地区可以作为干预的目标，以增强对子女状况的控制意识。 其中一项研究利用了新基因技术的可用性。这项研究招募了270名年龄在25-40岁的健康参保成年人，他们来自父母研究项目--多元倡议，该项目是在美国密歇根州底特律的一个大型医疗保健系统内进行的。所有参与者都接受了一项多重基因测试，评估了八种疾病的风险：2型糖尿病、骨质疏松症、高血压、冠心病、高胆固醇血症、皮肤癌、肺癌和结直肠癌。数据是从基线调查、基于网络的决策调查和测试时收集的。我们的目标是通过一个概念模型来理解预测变量和接受测试的决定之间的关系，该概念模型源于计划行为理论和保护动机理论的融合。结构方程模型将反应效率确定为对多重基因测试态度的预测因子(P&lt；0.001)，这反过来又预测了对接受测试的意图。接受检测的意向是检测行为的强烈预测因素(P&lt；0.001)，有检测意向的人的摄取量是没有检测的人的17.67倍。总体而言，被测试的模型解释了56%的意图差异和95%的吸收差异。这些发现支持使用计划行为理论中的变量来模拟关于多种健康状况的基因测试的决策。

Over the past year, the Genetics Services Research Unit has completed several investigations in genetic counseling related research: One study of Bipolar disorder, an etiologically complex condition caused by genetic and environmental factors that affects 1-2% of the population aimed to understand the role of coping among adults adapting to bipolar disorder and the risk for a mood disorder in ones children. Methods: Adults were recruited from support/advocacy organizations to complete a web-based survey. Eligible participants reported having bipolar disorder and an unaffected child less than 31 years of age. Survey scales measured: illness perceptions, optimism, coping, adaptation, perception of childrens risk, and coping with risk to children. Our results found that participants were less well adapted to their condition than other populations of adults living with chronic conditions. Risks to ones children were associated with confidence in ones diagnosis (R=0.167, p=0.014), endorsing a genetic etiology (R=0-344, p<0.001), and having more affected individuals in the family (R=0.138, p=0.049). Multiple linear regression of parent adaptation included coping and optimism, and explained 55.9% of the variance (F=73.17, p<0.001). Multiple linear regression of parental coping included confidence in ones diagnosis and coping with bipolar disorder, and explained 10% of the variance (F=9.27, p<0.001). Effective coping strategies (active, social) may lead to greater adaptation to bipolar disorder and contribute to coping with risk to ones children. Confidence in ones own diagnosis affects parental perception of risk to ones children and to coping with perceived risk. Practice Implications: Clinical interventions aimed at increasing active and social coping with bipolar disorder are expected to lead to greater adaptation and more effective coping with perceived risks to ones children. Another study of parents with children with undiagnosed conditions explored the role of uncertainty. Uncertainty is a pervasive characteristic of illness. Yet little is known about the individual or situational factors that contribute to perceptions of uncertainty. This study aimed to examine the factors that contribute to perceived uncertainty among parents of a child with an undiagnosed condition. In this study, two hundred sixty six parents of a child, or children, affected by an undiagnosed medical condition for at least two years completed an electronically administered survey assessing theoretical predictors of perceived uncertainty. Multivariate linear regression analyses were used to identify the relationship of key variables to perceived uncertainty. Parents perceived control and optimism were negatively associated with uncertainty (B = -1.642, p < 0.001, B = -0.300, p &#8804; 0.01). Subjective disease severity was positively associated with perceived uncertainty (B = 1.388, p &#8804; 0.001). Perceived control was negatively associated with two domains of uncertainty (ambiguity, p<0.001; lack of clarity, p<0.001). Our findings suggest that when parents experience greater uncertainty they feel less in control, which may lead to less effective coping and poorer adaptation. Areas where parents perceive greatest uncertainty may serve as targets for interventions to enhance perceptions of control over their childs condition. One study capitalized on the availability of new genetic technology. This study recruited 270 healthy insured adults age 25-40 from a parent research project, the Multiplex Initiative, which was conducted within a large health care system in Detroit MI, USA. All participants were offered a multiplex genetic test that assessed risk for eight conditions: type 2 diabetes, osteoporosis, hypertension, coronary heart disease, hypercholesterolemia, skin cancer, lung cancer and colorectal cancer. Data were collected from a baseline survey, a web-based decisional survey, and at the time of testing. We aimed to understand relationships between predictor variables and the decision to undergo testing using a conceptual model that originated from an amalgamation of the Theory of Planned Behavior and Protection Motivation Theory. Structural equation modeling identified response efficacy as a predictor (&#946;=0.23, p<0.001) of attitudes toward multiplex genetic testing, which in turn predicted (&#946;=0.46, p<0.001) intentions towards undergoing testing. Intentions to undergo testing were a strong predictor of testing behavior (&#946;=0.97, p<0.001), with 17.67 fold higher uptake among those with intent to undergo testing than for those without. Overall, the tested model explained 56% of the variance in intentions and 95% of the variation in uptake. These findings support the use of variables from the Theory of Planned Behavior in modeling decision-making about a genetic test for multiple health conditions.