ClinSeq - Clinical and Behavioral Aspects

在2016财年，我们通过开展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。 偶然发现。 我们正在积极推进恶性高热领域，在ClinGen的保护伞下召集一个专家小组，制定标准并评估这一重要疾病的变异。我还被任命为临床药物遗传学实施联盟恶性高热工作组的主席。 返回结果的随机对照试验 由于测序技术是新的，重要的是要了解医疗系统如何采用这项技术。作为理解许多相关问题的重要基础，我们对这种测序技术的基线态度进行了广泛的调查。 这项调查已经完成，分析，并将在今年秋天提交一份出版物草案。我们在这一领域的主要努力是，我们已经完成了一个大的（n=400），控制实验的实验武器，不同的模式返回的结果比较的经典模型的直接临床医生的互动与基于网络的结果返回的新模式的招募。这个实验将是发现返回结果的有效模式的关键。我们目前正在分析这项研究的数据。 我们也在探索参与者对不确定临床意义的变异的反应。 这是基因组学中的一个重大挑战，我们设计了一项试验，在该试验中，我们将返回高于或低于50%致病可能性阈值的未知意义的变体，以衡量参与者对此类变体的反应，并根据这些结果衡量他们实施医疗护理的意图。

In FY2016 we have substantially advanced the goals and objectives for the ClinSeq clinical and behavioral project by performing the following ongoing substudies. Incidental findings. We are aggressively pushing into the area of malignant hyperthermia by convening an expert panel under the ClinGen umbrella to develop standards and evaluate variants for this important disease. I have also been appointed chair of the Clinical Pharmacogenetic Implementation Consortium working group on malignant hyperthermia. 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. As an important foundation for understanding many related questions, we have developed an extensive survey of baseline attitudes towards this sequencing technology. This survey has been completed, analyzed, and a draft publication will be submitted this fall. Our major effort in this domain is that we have completed recruitment for a large (n=400), controlled experiment with experimental arms that vary the mode of return of results to compare the classical model of direct clinician interaction with a new mode of web-based results return. This experiment will be key to discovering efficient modes of return of results. We are currently analyzing data for this study. We are also exploring participant reactions to variants of uncertain clinical significance. This is a major challenge in genomics and we have designed 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.