Making pretest genomic counseling optional: lessons from the RAVE study.
Making pretest genomic counseling optional: lessons from the RAVE study.
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进行预测试的基因组咨询可选：从Rave研究中的课程。
DOI：
10.1038/gim.2017.240
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发表时间：
2018-10
期刊：
影响因子：
--
通讯作者：
Sharp RR
中科院分区：
文献类型：
--
作者：
Sutton EJ;Kullo IJ;Sharp RR
将基因组医学成功地整合到临床实践中，需要基因专业人员重新评估临床标准，这些标准在追求基因组测序的个体数量较低时可能是合适的，但在更大的范围内可能不可行。其中一种做法是期望患者和研究参与者在进行基因组评估之前与遗传咨询师会面。当基因组测序成为医疗保健的一个组成部分时，这种期望可能与咨询师的可用性和患者对遗传咨询服务的兴趣不相容。1,2作为可操作变异回归实证（RAVE）研究的一部分，我们正在检查一组医学相关基因的靶向基因组测序结果的披露，我们正在检查患者对选择性遗传咨询的兴趣。RAVE研究将评估约3000人的109个基因，其中包括美国医学遗传学和基因组学学院确定的59个医学上可操作的基因。可操作的结果将由遗传专业人员向患者披露，并存入他们的电子健康记录中。与基因组测序的标准方法相比，RAVE研究的参与者不需要接受检测前遗传咨询。相反，基因咨询是在可选的、免费的基础上提供给那些表示有兴趣的人。在2016年3月18日至2016年4月29日的招募过程中，所有潜在的志愿者都收到了邀请函。这份邀请包括一份4页的信息小册子，一份2页的“常见问题”文件，以及一份14页的研究同意书。这些材料是由我们的遗传咨询团队开发的，包括测试前遗传咨询会议的标准要素。这些材料讨论了个人是如何被选择参加RAVE的，为什么要进行这项研究，参与的条件，谁可以获得健康信息，将产生什么样的基因检测结果，参与者将如何获得基因检测结果，为什么有人想参加，有什么隐私保护措施，对家庭成员的潜在影响，以及与谁联系有关研究的问题。
The successful integration of genomic medicine into clinical practice will require genetic professionals to reevaluate clinical standards that might have been appropriate when the numbers of individuals pursuing genomic sequencing were low, but may not be feasible on a larger scale. One such practice is the expectation that patients and research participants meet with a genetic counselor prior to pursuing genomic evaluation. Anticipating a time when genomic sequencing is an integral element of medical care, this expectation may be incompatible with counselor availability and patient interest in genetic counseling services. 1, 2 As part of the Return of Actionable Variants Empirical (RAVE) study, which is examining disclosure of results from targeted genomic sequencing of a panel of medically relevant genes, we are examining patients’ interest in elective genetic counseling. The RAVE study will evaluate 109 genes, including the 59 genes identified as medically actionable by the American College of Medical Genetics and Genomics, in approximately 3,000 individuals. Actionable results will be disclosed to patients by a genetic professional and placed in their electronic health record.In contrast to standard approaches to genomic sequencing, participants in the RAVE study were not required to receive pretest genetic counseling. Instead, genetic counseling was offered on an optional, no-cost basis to those individuals who expressed an interest. During the recruitment process, which occurred from 18 March 2016 to 29 April 2016, an invitation was mailed to all potential volunteers. This invitation included a 4-page informational pamphlet, a 2-page “frequently asked questions” document, and a 14-page consent form describing the study. These materials were developed by our genetic counseling team and included standard elements of a pretest genetic counseling session. These materials discussed how individuals were selected to participate in RAVE, why the study is being done, what participation requires, who has access to health information, what kinds of genetic test results will be generated, how participants will receive genetic test results, why someone would want to participate, what privacy protections are in place, potential implications for family members, and who to contact with questions about the study.
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