NHGRI/DIR Genetic Counseling Training Program

完成了四篇学生论文。下文介绍了其中两项。所有的研究都将在2015年10月在汉堡举行的国家遗传咨询师协会会议上发表，并将很快提交出版。 马尔西巴尔：遗传性癌症易感性检测 本研究的目的是研究决策的呈现如何影响遗传性癌症易感性基因检测的选择。具体来说，选项的数量和个性化建议的添加如何影响结果，例如接受基因检测的可能性，选择的基因检测以及一个人的测试选择是否符合他们的个人偏好。454名健康志愿者完成了一项在线假设小插曲研究。每个参与者被随机接受两个调查版本之一，这两个版本在呈现测试选项的方式以及这些选项如何与提供者建议相结合方面有所不同。回归分析进行，以确定之间的关系的选择和参与者的决定。Wilcoxon秩和检验用于确定提供者建议对最终基因检测选择的影响。当有三个选项而不是两个选项时，参与者更有可能选择接受基因检测（OR：2.00 p=0.014）。当决定不接受检测的个体接受第三种选择时，不再观察到这种效应（OR：0.90 p=0.775）。增加提供者建议并没有显著改变所选选项的总体分布（p=0.746）。然而，在获得推荐后，参与者更有可能选择与个人对所需遗传信息类型的偏好最匹配的测试（p<0.001）。当有更多选择时，参与者更有可能接受基因检测。他们也更有可能选择符合个人偏好的选项，如果有一个基于这个偏好的建议。 卡罗琳·杨：遗传学研究人员认为有义务将偶然发现和个人结果返回给参与者 临床研究者越来越多地面临着关于将个体研究结果（IRR）和偶然发现（IF）以及从基因组测序返回给研究参与者的决定。研究表明，参与者对获得结果感兴趣。然而，在生物伦理学界，研究人员在多大程度上有义务归还IRR和IF，这一问题一直存在争议。很少有研究关注研究人员是否认为他们有道德义务返回结果，以及这种看法是否预测结果的返回。 目的：本研究探讨研究人员的看法和预测他们的义务，返回结果的参与者。此外，我们报告的义务的看法是否与报告的做法是一致的。通过美国人类遗传学会和美国国立卫生研究院基因型和表型数据库（dbGaP）确定的人类遗传学研究人员被邀请完成遗传学和公共政策中心进行的在线调查，旨在描述对遗传学当前问题的看法，包括同意，隐私保护，数据共享和个人研究结果的回报。本研究（二次数据分析）旨在描述的程度，研究人员的看法，法律的和道德的义务，返回结果，描述预测这种态度，并描述相关的因素，报告返回的结果给participator.Genetics研究人员不同的程度上，他们认为有义务返回IRR和IF给他们的参与者。虽然大多数研究人员（68%，n=242）支持将IRR或IF返回给参与者，但不到一半的研究人员表示有义务返回结果（IRR：44%，n=158; IF：44%，n=157）。多元线性回归显示，使用临床样本预测较高的感知义务返回结果（p<0.01），而工作环境也预测义务感（p<0.05）。大多数遗传学研究人员（60%）不向其参与者返回任何IF或IRR。进一步的多变量分析显示，那些有更高的感知义务和那些与参与者有更多互动的人更有可能返回结果（p<0.01）。在那些不返回结果的人中，他们的决策受到许多影响，包括缺乏有用的结果以及与IRB相关的障碍，同意限制和与参与者的联系水平。这些结果提供了研究人员如何思考他们对参与者的道德义务的见解，并表明这种义务的程度。

Four student theses were completed. Two are described below. All studies will all be presented at the The National Society of Genetic Counselors' conference in Pittsburg, October 2015 and will soon be submitted for publication. Marci Barr: Testing for Hereditary Cancer Predisposition The purpose of this study was to examine how the presentation of a decision can influence choices about genetic testing for inherited cancer predispositions. Specifically, how the number of options and the addition of a personalized recommendation might influence outcomes such as the likelihood of undergoing genetic testing, the genetic test chosen, and whether a persons test choice matches their personal preferences. An online hypothetical vignette study was completed by 454 healthy volunteers. Each participant was randomized to receive one of two survey versions which differed in the manner of presenting testing options and how these options were integrated with a provider recommendation. Regression analyses were performed to determine the relationships between the presentation of choice and participant decisions. Wilcoxon rank-sign tests were used to determine the impact of a provider recommendation on final genetic testing choices. Participants were more likely to choose to undergo genetic testing when presented with three options instead of two (OR: 2.00 p=0.014). This effect was no longer observed when individuals who had decided not to undergo testing were presented with a third option (OR: 0.90 p=0.775). The addition of a provider recommendation did not significantly change the overall distribution of options chosen (p=0.746). However, after a recommendation, participants were more likely to choose the test that best matched with personal preferences about the type of genetic information desired (p<0.001). Participants are more likely to undergo genetic testing when presented with more options. They are also more likely to select an option in line with personal preference if presented with a recommendation based on this preference. Caroline Young: Genetics researchers' perceived obligations to return incidental findings and individual results to participants Clinical investigators are increasingly facing decisions about returning individual research results (IRRs) and incidental findings (IFs) and from genome sequencing to research participants. Studies have shown that participants are interested in receiving results. Yet there has been debate in the bioethics community about the extent of researcher obligation to return both IRRs and IFs. Little research has focused on whether researchers perceive that they have an ethical obligation to return results, and whether such perceptions predict the return of results. Objective: This study examines researchers perceptions about and predictors of their obligation to return results to participants. Further, we report on whether perceptions of obligations are concordant with reported practice. Human genetics researchers identified through the American Society of Human Genetics and the National Institutes of Health database of genotypes and phenotypes (dbGaP) were invited to complete an online survey conducted by the Genetics and Public Policy Center seeking to describe perspectives about current issues in genetics including consent, privacy protections, data sharing, and the return of individual research results. This study (a secondary data analysis) seeks to describe the extent of researchers perceptions of legal and ethical obligation to return results, describe predictors of such attitudes, and describe factors related to the reported return of results to participants.Genetics researchers varied in the extent of their perceived obligation to return IRRs and IFs to their participants. While the majority of researchers (68%, n=242) support returning IRRs or IFs to participants, less than half reported feeling an obligation too return results (IRRs: 44%, n=158; IFs: 44%, n=157). Multiple linear regression showed that the use of clinical samples was predictive of higher perceived obligation to return results (p<0.01), while work setting was also predictive of feelings of obligation (p<0.05). The majority of genetics researchers (60%) do not return any IFs or IRRs to their participants. Further multivariate analysis revealed that those with higher perceived obligation and those with more interaction with participants were more likely to return results (p<0.01). Among those who do not return results, there were many influences on their decisions including lack of useful results generated as well as barriers associated with IRBs, consent constraints, and level of contact with participants. These results provide insights into how researchers are thinking about their ethical obligation to their participants, and suggest that the extent of this obligation.