NHGRI/DIR Genetic Counseling Training Program

完成了三篇学生论文。下面将介绍其中两个。所有这三项研究都将在2016年9月在西雅图举行的全国遗传顾问协会会议上发表，并提交发表。 Jennefer Kohler：基因组学中的个人效用：确定关键因素的混合方法研究 随着新测序技术的快速整合，研究人员和临床医生认识到基因组测试结果如何以不同于普遍接受的临床结果的方式影响接受者。这些结果被贴上了提供个人效用的标签。然而，在基因组测试中，没有一致或全面的个人效用描述，这使得确定哪些结果与基因组测序相关具有挑战性。确定个人效用的要素将有助于临床医生告知患者更广泛的潜在有用结果。明确什么是个人效用将增加测序研究设计的精确度。这项研究旨在确定个人效用的关键要素，并收集证据支持基因组测序研究中利益相关者要素的重要性。这项研究有两个主要部分：系统的文献回顾和使用德尔菲法与现有研究队列的调查。系统的文献综述确定了已发表的个人在基因组测试中的效用的结果。确定的结果被迭代地编码成个人效用的代表性元素。文献综述中确定的元素随后被组装成德尔菲法调查，应用于全基因组测序研究的参与者。调查包括两轮；每轮之后，根据评级结果添加或删除元素。文献检索返回330篇摘要，其中25篇研究符合纳入/排除标准。研究涉及受影响的、未受影响的和有风险的个人、家庭成员、研究参与者和公众。它们包括各种基因组测试类型。编码产生了19个不同的个人效用要素，分为四个主要领域：情感幸福感、认知理解、社会效果和实际应用。这19个元素被用来创建一个由38个项目组成的德尔福调查。第一轮后，有七个项目被删除，增加了两个项目；第二轮后，由于评分较低，增加了六个项目。这产生了27个项目，代表了个人效用的15个要素。个人效用的要素已经在25项研究中得到了突出表现，强调了它们对寻求基因组测试结果的个人的所谓价值。这项混合方法的研究发现，与整个基因组测序环境最相关的个人效用要素在很大程度上是积极的，这意味着个人主要从学习他们的结果中受益。这项研究的发现可能会为临床医生和寻求基因组测试的个人之间的共同决策提供信息，并指导测试前咨询。 克莱尔·安德森：遗传咨询师正在筛查青少年自杀风险吗？一项混合方法研究 这项研究描述了遗传咨询师在青少年客户自杀风险评估(SRA)方面的做法、态度和信念。自杀是一个重大的公共卫生问题，也是美国青少年死亡的主要原因之一。对自杀预防运动的分析表明，减少自杀最有效的方法是培训提供者认识自杀危险因素。由于慢性病是自杀的另一个危险因素，儿科遗传咨询师会遇到特别高风险的客户，并且由于其工作的心理社会性质，他们处于很好的位置来评估自杀风险。然而，遗传咨询师的SRA实践以前没有被描述过。在行为改变跨理论模型指导下的这项横断面研究中，遗传咨询师通过一个由数量成分和开放式问题组成的匿名在线问卷，调查了他们对SRA的做法、态度和信念。去年为青少年客户提供咨询的229名美国遗传咨询师是通过全国遗传咨询师学生研究调查列表招募的。几乎一半的受访者曾评估过青少年客户的自杀风险，但大多数人在他们的青少年客户中只有不到10%的人进行了SRA。大约11%的受访者将SRA作为其临床实践的常规部分。基于Logistic回归，采用SRA的准备阶段与先前的培训和认为SRA在遗传咨询师的执业范围内的看法有关。虽然大多数人认为SRA很重要，但定性结果表明，许多人认为SRA存在障碍，经常担心他们的青少年客户的负面反应。针对遗传咨询师的需要和关注的自杀风险评估培训有助于增加青少年SRA的频率。

Three student theses were completed. Two are described below. All three studies will all be presented at the The National Society of Genetic Counselors' conference in Seattle, September 2016 and be submitted for publication. Jennefer Kohler: Personal Utility in Genomics: A Mixed Methods Study to Identify Key Elements With the rapid integration of new sequencing technologies, researchers and clinicians recognize how genomic test results affect recipients in ways distinct from generally accepted clinical outcomes. These outcomes have been labeled as providing personal utility. Yet no consistent or comprehensive delineation of personal utility in genomic testing exists, making it challenging to determine which outcomes are relevant to genome sequencing. Identifying elements of personal utility will help clinicians inform patients about a broader range of potential useful outcomes. Clarity in identifying what is meant by personal utility will add precision to the design of sequencing studies. This study aimed to identify key elements of personal utility and gather evidence in support of the importance of elements from stakeholders in a genome sequencing study. There were two major components to the study: a systematic literature review and use of a Delphi method survey with an existing research cohort. The systematic literature review identified published outcomes of personal utility in genomic testing. Identified outcomes were iteratively coded into representative elements of personal utility. Elements identified in the literature review were subsequently assembled into a Delphi method survey, administered to participants in a whole-genome sequencing research study. The survey consisted of two rounds; after each round, elements were added or removed based on the rating results. The literature search returned 330 abstracts from which 25 studies met the inclusion/exclusion criteria. Studies involved affected, unaffected, and at-risk individuals; family members; research participants; and the public. They included a variety of genomic test type. Coding resulted in 19 distinct elements of personal utility, organized into four overarching domains: affective wellbeing, cognitive understanding, social effect, and practical application. These 19 elements were used to create a 38-item Delphi survey. After round one, seven items were dropped and two were added; after round two, six additional items were dropped based on low rating. This resulted in 27 items representing 15 elements of personal utility. Elements of personal utility have been featured in 25 studies, emphasizing their purported value to individuals seeking genomic test results. This mixed-methods study found that elements of personal utility most relevant to the whole genome sequencing context are largely positive, implying that individuals predominately experience benefits from learning their results. Findings from this study may inform shared decision-making between clinicians and individuals seeking genomic testing, as well as guide pre-test counseling. Claire Anderson: Are genetic counselors screening for adolescent suicide risk? A mixed-methods study This study describes the practices, attitudes, and beliefs of genetic counselors in relation to suicide risk assessment (SRA) of adolescent clients. Suicide is a major public health issue and one of the leading causes of death for adolescents in the U.S. Analysis of suicide prevention campaigns has shown that the most effective way to decrease suicide is by training providers to recognize suicide risk factors. As chronic illness is an additional risk factor for suicide, pediatric genetic counselors encounter particularly high-risk clients and are well-positioned to assess for suicide risk due to the psychosocial nature of their work. However, the SRA practices of genetic counselors have not been previously described. In this cross-sectional study guided by the transtheoretical model of behavior change, genetic counselors were surveyed about their practices, attitudes and beliefs concerning SRA through an anonymous online questionnaire consisting of quantitative components and open-ended questions. 229 U.S. genetic counselors who counseled adolescent clients in the past year were recruited through the National Society of Genetic Counselors Student Research Survey listserv. Almost half of respondents had assessed an adolescent client for suicide risk, but most had performed SRA with fewer than 10% of their adolescent clients. Approximately 11% of respondents used SRA as a routine part of their clinical practice. Based on logistic regression, stage of readiness to adopt SRA was associated with prior training and perceptions that SRA is within a genetic counselors scope of practice. While most rated SRA as important, the qualitative results suggest that many perceive barriers to SRA, often fearing negative reactions from their adolescent clients. Suicide risk assessment training specific to genetic counselors needs and concerns could help to increase frequency of adolescent SRA.