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.

这是一项招募患者进行外显子组测序、测序结果交流以及检验整个测序结果对家庭生活的社会影响的观察性研究。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。它不仅有助于回答有症状患者的具体临床问题，还将揭示“偶然”结果和“未知临床意义”的结果。实验室科学家和遗传学家需要确定告诉患者什么以及如何根据这些发现采取行动。 研究人员将利用对后台工作的人种学观察来整合实验室和医院的全外显子组测序、在3年时间内与100名提供全外显子组测序的患者进行的患者与遗传学家互动的视频记录，以及对这些患者的一系列深度访谈，以评估全外显子组测序对他们生活的影响。鉴于当前对基因组科学临床应用的追求，该项目是及时的。全外显子组测序可能是个性化医疗圣杯——全基因组测序的预兆。该项目将研究新技术对广大利益相关者的社会影响。