Interventions in Genetic Counseling

在过去的一年里，遗传服务研究单位的研究人员一直在两个NHGRI研究计划内进行遗传咨询相关的研究：多重计划和ClinSeq。 两项研究利用了在密歇根州底特律市的一个大型医疗保健系统内进行的多重倡议中新基因技术的可用性。所有参与者都接受了多重基因检测，评估了8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。我们的目的是了解参与者对选择性返回结果的假设兴趣，因为人们在多疾病测试中选择条件时的偏好知之甚少。在这项辅助研究中，294名健康的投保参与者接受了多重基因检测。在基线、决策和测试期间收集数据。一项分析的重点是了解人们如何整合对多种健康状况的态度，以决定是否接受基因检测。对不同疾病的平均态度预测了测试的吸收，但并没有超过高峰期的态度，这是对测试中单一疾病的最高态度。峰值态度被发现足以预测测试吸收。这些发现支持理论认为，人们使用代表性的评价态度的形成。这些发现对基因检测进一步发展的意义是，多重检测的沟通和影响可能需要考虑到对峰值态度的偏见。另一项分析评估了担忧与八种常见疾病的可能性和严重程度之间的关系。个体和疾病的变化，担心和看法进行了检查。受试者间和受试者内分析得出以下主要结果：（1）担心与可能性感知的关系比与严重性感知的关系更密切;（2）严重性感知显著增加了可能性感知之上和之外的可解释的担心方差;（3）风险感知和担心形成两个集群：癌症疾病和心血管代谢疾病;（4）风险感知和担心的差异可以通过被试间和被试内差异的组合来解释。风险认知研究应关注严重性认知、受试者内变异性和疾病间差异，以及分组条件的策略。 结合NIH临床全基因组测序研究，我们探讨了参与者对接收不同类型序列结果的偏好。我们对NIH ClinSeq队列研究参与者进行了一项基线调查，以评估对不确定性的看法，假设这是学习和使用序列信息决策的关键决定因素。我们开发了一种新的量表，评估对基因组测序的不确定性的看法，基于对不确定性的理论研究和对研究参与者的焦点小组访谈。该量表包含10个项目，评估与基因组序列结果相关的不确定性对未来健康和行动的预测影响的看法。473名ClinSeq参与者在决定是否了解其序列结果之前完成了量表。回答呈正态分布，总体平均不确定性评分为3.5（SD 0.58），内部一致性较高（=0.835）。验证性因素分析揭示了实际不确定性、情感反应和结果可信度三个因素。未来使用这个尺度在纵向研究将使我们能够确定随着时间的推移，以及如何感知的不确定性影响决策的学习和行动的序列结果的不确定性感知的变化。

Over the past year, the Genetics Services Research Unit investigators have been conducting genetic counseling related research within two NHGRI research initiatives: The Multiplex Initiative and ClinSeq. Two studies capitalized on the availability of new genetic technology within the Multiplex Initiative that was conducted within a large health care system in Detroit, Michigan. 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. We aimed to understand participants hypothetical interest in selective return of results as little is known about peoples preferences when choosing among conditions on a multi-disease test. In this ancillary study, 294 healthy insured participants were offered multiplex genetic testing. Data was collected at baseline, during decision-making, and testing. One analysis focused on learning how people integrate attitudes about multiple health conditions to make a decision about genetic testing uptake. Averaging attitudes across diseases predicted test uptake but did not contribute beyond peak attitudes, the highest attitude toward testing for a single disease in the set. Peak attitudes were found sufficient to predict test uptake.These findings support theories suggesting that people use representative evaluations in attitude formation. The implication of these findings for further developments in genetic testing is that the communication and impact of multiplex testing may need to be considered in the light of a bias toward peak attitudes. Another analysis assessed the relationships between worry and perceptions of likelihood and severity across the eight common diseases. Individual and disease variability in worry and perceptions were examined. Between- and within-subjects analyses yielded the following main findings: (1) worry is more closely related to likelihood perceptions than to severity perceptions; (2) severity perceptions add significantly to explained worry variances above and beyond likelihood perceptions; (3) risk perceptions and worries form two clusters: cancer diseases and cardiovascular-metabolic diseases; and (4) variance in risk perception and worry is explained by a combination of between- and within-subjects variances. Risk perception research should attend to severity perceptions, within-subjects variability and inter-disease differences, and to strategies for grouping conditions. In conjunction with an NIH clinical whole genome sequencing study we explored participants preferences for the receipt of different types of their sequence results. We conducted a baseline survey of NIH ClinSeq cohort study participants to assess perceptions of uncertainty, hypothesized to be a key determinant of decisions to learn and use sequence information. We developed a novel scale assessing perceptions of uncertainty specific to genomic sequencing, based on theoretical work on uncertainty and focus groups interviews with study participants. The scale contains 10 items that assess perceptions of the projected effect of uncertainties related to genomic sequence results on ones future health and actions. 473 ClinSeq participants completed the scale prior to making a decision about whether to learn their sequence results. There was a normal distribution in responses with an overall mean uncertainty score of 3.5 (SD 0.58) and high internal consistency (α=0.835). Confirmatory factor analysis revealed three factors related to practical uncertainty, affective responses and trustworthiness of the results. Future use of this scale within this longitudinal study will allow us to identify changes in perceptions of uncertainty over time and how perceptions of uncertainty affect decisions about learning and acting on ones sequence results.