University of Utah Center of Excellence in ELSI research (UCEER)

项目摘要 本申请是为ELSI研究的犹他州卓越中心的资金更新 （UCEER）。我们的中心已收到资金下的P20赠款从2014 - 2016年和根据 2016 - 2020年RM 1补助金。UCEER主要关注基于人口的ELSI问题 基因检测和筛查。对于当前的融资周期，UCEER非常强调 新生儿筛查、产前筛查和携带者筛查。对于此次更新，我们建议 将这一重点扩展到解决遗传残疾问题，包括成本效益 家庭和社区内的治疗、适应和支持，以及法律的/政策 问题.此外，我们建议处理以人口为基础的文物测试所引起的问题 直接给消费者基因检测公司。我们建议保持一系列强有力的努力， 涉及来自广泛学科的教师和学生，从本科到 博士后水平。UCEER获得了NHGRI的R25奖，与我们的RM 1资金挂钩， 支持那些有残疾的本科生和研究生。UCEER拥有 建立了一个有效的行政结构和程序，并建立了一个强大的工作人员队伍， 支持我们的研究和教育计划。

PROJECT SUMMARY This application is for renewal of funding for the Utah Center of Excellence in ELSI Research (UCEER). Our Center has received funding under a P20 grant from 2014 – 2016 and under an RM1 grant from 2016 – 2020. UCEER is primarily focused on ELSI issues in population-based genetic testing and screening. For the current funding cycle, UCEER has had a strong emphasis on newborn screening, prenatal screening and carrier screening. For this renewal, we propose extending this focus to also address issues with genetic disabilities, including cost- effectiveness of treatments, adaptation and support within families and the community, and legal/policy issues. In addition, we propose to address issues arising from population-based heritage testing by direct to consumer genetic testing companies. We propose to maintain a robust set of efforts to involve faculty from a broad range of disciplines and students from the undergraduate to post-doc levels. UCEER has received a R25 award from NHGRI, linked to our RM1 funding, that supports undergraduate and graduate students who identify with a disability. UCEER has developed an efficient administrative structure and processes and a strong group of staff to support our research and educational programs.