UCEER: Utah Center for Excellence in ELSI Research P20

描述(由申请人提供)：犹他大学ELSI研究卓越中心(UCEER)将对ELSI研究、培训和指导进行战略规划，并进行两个试点项目。UCEER的重点将是在妇女和儿童保健中对人群进行遗传疾病筛查。我们的重点将是产前基因筛查和新生儿筛查。我们将在我们的优势和经验的基础上，建立一个协作的、跨学科的ELSI问题研究和培训中心。产前和新生儿筛查服务每年影响数百万人，是儿科和产科保健的重要组成部分。 具体目标1：制定跨学科/跨机构研究的战略计划 A)我们将在合作机构中组织和协调一个由调查人员和辅助人员组成的跨学科小组；以及 B)为至少两个R0I级项目制定战略计划，以解决产前和新生儿基因筛查中的前沿ELSI问题。 具体目标2：制定多学科ELSI培训和指导的战略计划 A)对大学教职员工和学生在ELSI问题上的教育、培训和指导进行需求评估。 B)制定教育、培训和辅导机会的战略计划。 C)为来自服务不足的区域社区的学生制定教育和奖学金战略计划。 具体目标3：试点研究 A)确定提供者如何将非整倍体筛查信息和选择传达给夫妇 B)利用犹他州人口数据库的独特资源，我们将描述犹他州孕妇人口的产前筛查率。

DESCRIPTION (provided by applicant): The University of Utah Center for Excellence in ELSI Research (UCEER) will conduct strategic planning for ELSI research, training and mentoring, and conduct two pilot projects. The focus of the UCEER will be population screening for genetic conditions in the health care of women and children. Our specific focus will be prenatal genetic screening and newborn screening. We will build on our strengths and experience to develop a collaborative, transdisciplinary center for research and training in ELSI issues. Prenatal and newborn screening services impact millions of individuals annually and represent important elements in pediatric and obstetric health care. Specific Aim 1: Develop a Strategic Plan for Transdisciplinary/Trans-institutional Research a) We will organize and coordinate a transdisciplinary team of investigators and support staff across the collaborating institutions; and b) Develop a strategic plan for at least two R0I level projects that addresses cutting-edge ELSI issues in prenatal and newborn genetic screening. Specific Aim 2: Develop a Strategic Plan for a multidisciplinary ELSI Training and Mentoring a) Conduct a needs assessment of faculty and students at the University for education, training, and mentorship in ELSI issues. b) Develop a strategic plan for educational, training and mentoring opportunities. c) Develop a strategic plan for education and scholarship of students from regional underserved communities. Specific Aim 3: Pilot Studies a) To identify how aneuploidy screening information and choices are communicated to couples by providers b) Using the unique resources of the Utah Population Database, we will describe the rates of prenatal screening in the population of pregnant women in Utah.