ClinSeq - Clinical and Behavioral Aspects

ClinSeq - 临床和行为方面

• 批准号: 8750717
• 负责人: Leslie Biesecker
• 金额: $ 61.42万
• 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/8750717
• 关键词: American; Attitude; Baseline Surveys; Behavioral; Cardiomyopathies; Clinical; Clinical Medicine; Clinical Research; Data; Development; Disease; Dominant Genetic Conditions; Functional disorder; Genes; Genetic Variation; Genomics; Goals; Image; Incidental Findings; Informed Consent; Interview; Malignant Neoplasms; Malignant hyperpyrexia due to anesthesia; Medical; Medical Genetics; Medicine; Modeling; Molecular; Motivation; Online Systems; Paper; Participant; Patients; Pattern; Phenotype; Predisposition; Reaction; Recommendation; Reporting; Research Personnel; Surveys; Technology; Test Result; Variant; Writing; arm; college; experience; human disease; improved; interest; new technology; novel; novel strategies; research study

In FY2013 we have substantially advanced the goals and objectives for the ClinSeq(c) clinical and behavioral project by performing the following ongoing substudies. Incidental findings. The topic of incidental findings has exploded onto the clinical and research agenda, to no small extent facilitated by the ClinSeq(c) study. In the prior period, we piloted incidental findings by identifying cancer susceptibility variants in ClinSeq(c) participants (Johnston et al, 2012). In this period, we have expanded this effort by extending it into a new project on cardiomyopathy and dysrhythmia variants (Ng et al, In Press) and a second project on malignant hyperthermia (Gonsalves et al, In Press). We are extending this into a broader project to explore all null variants (novel and known) in genes known to cause human disease in an autosomal dominant pattern and correlating this with phenotype. This project will extend into the next reporting period. Indeed, the ClinSeq(c) experience substantially contributed to the recommendations issued by the American College of Medical Genetics on incidental findings (Green et al, 2013). Surveying participant attitudes and informed consent. As sequencing technology is new, it is important to understand how patients will understand and take up this technology. To that end, we have surveyed our participants to understand the motivations for participating in the study (Facio et al, 2012a) and the intentions to receive results (Facio et al 2012b). We have also surveyed them to gauge the depth of their understanding, which was quite high (Kaphingst et al., 2013). Finally, we have written a theoretical paper that proposes a novel approach to informed consent for studies like ClinSeq(c), which generate hypotheses for clinical research (Facio et al, 2013). For the upcoming year, we have developed an extensive survey of baseline attitudes towards this sequencing technology. Return of results. We are currently identifying known pathogenic gene variants in our participants. For the known dominant traits, we are returning those as they are identified and are performing qualitative interviews on the participants to gauge their reactions and how they plan to use the results. In addition, we are planning a large, 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.

在2013财年，我们通过执行以下持续的子类别来实质上提高了Clinseq（C）临床和行为项目的目标。 偶然发现。 偶然发现的主题已经爆发在临床和研究议程上，这在Clinseq（C）研究中促进了临床和研究议程。在上一个时期，我们通过鉴定Clinseq（C）参与者中的癌症敏感性变异来试验偶然发现（Johnston等，2012）。在此期间，我们通过将其扩展到有关心肌病和肌动脉症变体的新项目（NG等人，印刷中）和关于恶性高温的第二个项目（Gonsalves等人，印刷中）。我们将其扩展到一个更广泛的项目中，以探索已知在常染色体显性模式中引起人类疾病的基因中的所有空变体（新颖和已知），并将其与表型相关联。该项目将延长到下一个报告期。实际上，Clinseq（C）经验实质上促成了美国医学遗传学学院关于偶然发现的建议（Green等，2013）。 调查参与者的态度和知情同意。 由于测序技术是新的，因此重要的是要了解患者将如何理解和接受这项技术。为此，我们调查了参与者，以了解参与研究的动机（Facio等，2012a）和接收结果的意图（Facio等，2012b）。我们还调查了他们以评估他们的理解深度，这很高（Kaphingst等，2013）。最后，我们撰写了一篇理论论文，该论文提出了一种新颖的方法，以了解Clinseq（C）等研究的知情同意，该研究产生了临床研究的假设（Facio等，2013）。在接下来的一年中，我们对这项测序技术的基线态度进行了广泛的调查。 结果返回。 我们目前正在确定参与者中已知的病原基因变异。对于已知的主要特征，我们正在归还这些特征，因为它们被识别出来，并对参与者进行定性访谈，以评估他们的反应以及他们计划如何使用结果。此外，我们正在计划进行大型，受控的实验，该实验将改变结果的返回方式，以将直接临床医生互动的经典模型与新的基于Web的结果的新模式进行比较。