ClinSeq - Clinical and Behavioral Aspects

ClinSeq - 临床和行为方面

• 批准号: 9358526
• 负责人: Leslie Biesecker
• 金额: $ 111.55万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/9358526
• 关键词: Address; African American; Area; Attitude; Baseline Surveys; Behavioral; Caring; Clinical; Clinical Medicine; Data; Data Analyses; Development; Disease; Foundations; Functional disorder; Genomics; Goals; Image; Incidental Findings; Malignant hyperpyrexia due to anesthesia; Measures; Medical; Medicine; Modeling; Molecular; Motivation; Online Systems; Participant; Pathogenicity; Pharmacogenetics; Phenotype; Publications; Publishing; Randomized Controlled Trials; Reaction; Recruitment Activity; Research; Research Personnel; Surveys; System; Technology; Test Result; Time; Variant; arm; base; cohort; design; exome; falls; genomic data; improved; innovation; interest; new technology; rare variant; research study; variant of unknown significance; working group

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.

在2016财年，我们通过执行以下持续的子类别来实质上提高了Clinseq临床和行为项目的目标。 偶然发现。 我们正在积极地推进恶性高温区域，通过在克林根伞下召集专家小组来制定标准标准并评估这种重要疾病的变体。我还被任命为临床药物遗传实施联盟的主席恶性高温工作组。 结果回报的随机对照试验 由于测序技术是新的，因此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，我们对对该测序技术的基线态度进行了广泛的调查。 该调查已完成，分析，并将在今年秋天提交出版草案。我们在该领域的主要努力是，我们已经完成了大型（n = 400）的招聘，并通过实验臂进行了对照实验，这些实验会改变结果的返回方式，以比较直接临床互动的经典模型与新的基于Web的结果模式的返回。该实验将是发现结果回报率模式的关键。我们目前正在分析这项研究的数据。 我们还正在探索参与者对不确定临床意义的变异的反应。 这是基因组学的主要挑战，我们设计了一项试验，我们将返回具有未知意义的变体以上或低于50％的致病性阈值，以衡量参与者对此类变体的反应，并根据这些结果衡量其实施医疗服务的意图。