Next Generation DNA Sequencing Technologies: The Communication of Test Results

点击翻译按钮获取中文摘要

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.