Next Generation DNA Sequencing Technologies: The Communication of Test Results

下一代 DNA 测序技术：测试结果的交流

• 批准号: 1256874
• 负责人: Stefan Timmermans
• 金额: $ 20.19万
• 依托单位: University of California-Los Angeles
• 依托单位国家: 美国
• 项目类别: Standard Grant
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-05-01 至 2018-04-30
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=1256874&HistoricalAwards=false
• 关键词: Next; Generation; DNA; Sequencing; Technologies

This is an observational study of the recruitment of patients to have exome sequencing, the communication of the results of sequencing, and an examination of the social impact of whole sequencing results on families' lives. Exome sequencing is a genomic technique that promises to reveal nearly 85% of disease mutations. It will not only help answer specific clinical questions of symptomatic patients, but will reveal "incidental" results and results of "unknown clinical significance." Laboratory scientists and geneticists will need to determine what to tell patients and how to act on these findings. The researchers will use ethnographic observations of the backstage work performed to integrate whole exome sequencing in the laboratory and the hospital, video-recordings of patient-geneticist interactions with 100 patients offered whole exome sequencing over a 3-year period, and a series of in-depth interviews with these patients to gauge the impact of whole exome sequencing on their lives. This project is timely given the current the quest for clinical applications for genomic science. Whole exome sequencing may be a harbinger for what is considered the holy grail of personalized medicine, whole genome sequencing. This project will examine the social impact of the new technology for a wide range of stakeholders.

这是一项观察性研究，对患者进行外显子组测序的招募，测序结果的交流以及对整个测序结果对家庭生活的社会影响的检查。外显子组测序是一种基因组技术，有望揭示近85％的疾病突变。它不仅将有助于回答有症状的患者的特定临床问题，而且还会揭示“偶然的”结果和“未知临床意义”的结果。实验室科学家和遗传学家将需要确定如何告诉患者以及如何对这些发现采取行动。 研究人员将使用人种学观察对实验室和医院中整个外显子组测序进行整合，患者遗传学家与100名患者进行互动的视频触发的视频录制，并在三年内提供了整个外显子组测序，并与这些患者进行了一系列的访谈，以评估整个外来序列对他们的生活的影响。鉴于当前对基因组科学的临床应用的寻求范围，该项目是及时的。整个外显子组测序可能是个性化医学的圣杯，整个基因组测序。该项目将研究新技术对各种利益相关者的社会影响。