ClinSeq - Clinical and Behavioral Aspects

在2019财年，我们通过执行以下正在进行的子研究，大幅推进了ClinSeq临床和行为项目的目标和目标。 结果返回的随机对照试验 由于测序技术是一项新技术，了解医疗系统如何采用这项技术是很重要的。我们开发了一个具有成本效益的基于网络的结果返回平台，并在随机对照试验中对其进行了测试。这项研究已经完成，并进行了分析，并由此产生了三种出版物。 我们还探讨了参与者对临床意义不确定的变异的反应。这是基因组学中的一项重大挑战，我们已经完成了一项试验，我们将返回致病性可能性高于或低于50%阈值的未知意义的变异，以衡量参与者对这些变异的反应，并根据这些结果衡量他们实施医疗保健的意图。 最后，关于我们新的非洲裔美国人群体，我们进行了一项关于态度和意图的基线调查，并已公布。我们现在正在组织焦点小组，以一种更微妙的方式探索偏好和意图。我们正在进行一项随机对照试验，通过网络界面返回负面的二次调查结果报告。

In FY2019 we have substantially advanced the goals and objectives for the ClinSeq clinical and behavioral project by performing the following ongoing substudies. Randomized controlled trial of return of results As sequencing technology is new, it is important to understand how the medical system can take up this technology. We developed a cost effective web-based return of results platform and tested it in a randomized controlled trial. This study has been completed, analyzed, and three publications have emanated from this. We have also explored participant reactions to variants of uncertain clinical significance. This is a major challenge in genomics and we have completed a trial where we will return variants of unknown significance either above or below the 50% threshold of likelihood of pathogenicity to gauge participant reactions to such variants, and measure their intentions to implement medical care based on these results. Finally, with respect to our new African-American cohort, we have performed a baseline survey of attitudes and intentions, which has been published. We are now performing focus groups to explore preferences and intents in a more nuanced way. We are running a randomized controlled trial of returning negative secondary findings reports by web interface.