Interventions in Genetic Counseling

在过去一年中，遗传服务研究组完成了几项遗传咨询相关研究的调查。 在对220名面临侵入性产前检测决定的妇女的矛盾心理流行率进行先前研究的结果进行后续研究时，发现大约三分之一的妇女有明显的矛盾心理，设计了一项原则研究的证据。 在这项研究中，两个干预措施，旨在减少矛盾心理，从而提高知情选择产前检测正在探讨其可接受性和可行性。正在收集数据。 一项对191名有亨廷顿病风险的人进行的研究显示，大多数人向其社交网络中的大多数成员透露了他们的亨廷顿舞蹈症状态、亨廷顿舞蹈症的遗传、亨廷顿舞蹈症的特征以及他们对亨廷顿舞蹈症状态的感受和担忧。 然而，在人群中，对HD和其状态的披露程度各不相同，有选择性披露和不披露的证据。 多元回归分析表明，对HD状态的披露程度沿着个人知道其HD状态的年数预测适应HD风险生活。 这项研究表明，HD披露给他人的复杂性，也揭示了一个重要的关联披露的程度有关的地位和适应生活在危险之中。 这些结果表明，HCP可以帮助个人制定披露计划和策略，以科普其披露决定的后果。 在最后一项关于广泛性发展障碍儿童照顾者适应性的研究中，我们采用了横断面设计，调查了广泛性发展障碍儿童照顾者的控制信念、因果归因、应对策略和适应性之间的关系。 主要的成果衡量标准是适应性。 研究设计参考了Lazarus和Folkmans的压力和应对跨学科模型。在324名受访者中，大多数是女性（95%），已婚（80%），完成了大学学业（70%），是白色（92%），收入超过7万美元（51%）。 平均而言，这些儿童在五年前被诊断出患有PDD。 照顾者认为他们对查尔兹生活的各个方面都有适度的控制权，但报告说他们对查尔兹的医疗护理和治疗有最大的控制权。 多变量分析显示，更高的长期课程控制和控制他人，以问题为中心的应对，可控的因果归因与更高水平的适应。尽管作为PDD儿童的照顾者有时被描述为控制机会有限的情况，但这些照顾者报告了他们可以通过多种方式控制查尔兹症状和护理的许多方面。 控制信念，特别是在长期的过程中，可以作为一个潜在的目标，旨在提高适应临床干预。 此外，以问题为中心的应对是一个重要的预测适应的照顾者在这项研究中，这可能表明这些应对策略的重要性，特别是在几年后立即诊断。

Over the past year, the Genetics Services Research Unit has completed several investigations in genetic counseling related research. In follow up to the results of a prior study into the prevalence of ambivalence among 220 women facing decisions about invasive prenatal testing found that found that about a third of women have significant levels of ambivalence, a proof of principle study was designed. In this study two interventions aimed at reducing ambivalence, thereby enhancing informed choice about prenatal testing are being explored for their acceptability and feasibility. Data collection is ongoing. A study of 191 people at risk for Huntington's disease revealed that the majority of individuals disclosed their HD status, the inheritance of HD, the features of HD, and their feelings and concerns about their HD status to the majority of members within their social network. However, the extent of disclosure about HD and ones status varied within the population, with evidence for selective disclosure and nondisclosure. Multiple regression analysis indicated that the extent of disclosure about HD status along with number of years an individual had known their HD status predict adaptation to living at risk for HD. This study demonstrates the complex nature of HD disclosure to others and also reveals an important association between the extent of disclosure about ones status and adaptation to living at risk. These results suggest ways that HCPs can assist individuals in devising disclosure plans and strategies to cope with the consequences of their disclosure decisions. In a final study on the adaptation of caretakers of children with pervasive developmental disorders we used a cross-sectional design to investigate the relationships between control beliefs, causal attributions, coping strategies and adaptation among caregivers of children with PDD. The main outcome measure was adaptation. Study design was informed by Lazarus and Folkmans Transactional Model of Stress and Coping. Among the 324 respondents, the majority was female (95%), married (80%), had completed college (70%), were white (92%) and had an income greater than $70,000 (51%). On average, the children had been diagnosed with a PDD five years ago. Caregivers felt that they had a moderate amount of control over all aspects of their childs life, but reported having the most control over their childs medical care and treatment. Multivariate analysis revealed that higher long-term course control and control by others, problem-focused coping, and controllable causal attributions were associated with greater levels of adaptation. Though being a caregiver to a child with PDD has sometimes been characterized as a situation with limited opportunities for control, these caregivers reported many ways that they find control over many aspects of their childs symptoms and care. Control beliefs, particularly over long-term course, may serve as a potential target for clinical interventions aimed at enhancing adaptation. Furthermore, problem-focused coping was a significant predictor of adaptation for the caregivers in this study, which may indicate the importance of these coping strategies, particularly in the years immediately following a diagnosis.