UCEER: Utah Center for Excellence in ELSI Research P20

UCEER：犹他州 ELSI 研究卓越中心 P20

• 批准号: 8857215
• 负责人: JEFFREY R. BOTKIN
• 金额: $ 24.84万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-06-16 至 2016-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8857215
• 关键词: Address; Aneuploidy; Child; Childhood; Communication; Communities; Complex; Couples; Diagnostic; Discipline; Discipline of obstetrics; Education; Educational process of instructing; Ethics; Faculty; Focus Groups; Fostering; Funding; Genetic Counseling; Genetic Research; Genetic Screening; Genetic screening method; Group Interviews; Health; Health Communication; Healthcare; Hereditary Disease; Hispanic Americans; Human Genetics; Indium; Individual; Infant; Informed Consent; Institution; Laboratories; Laws; Medicine; Mentors; Mentorship; Methods; National Human Genome Research Institute; Native Americans; Needs Assessment; Neonatal Screening; Newborn Infant; Nursing Philosophy; Outcome; Parents; Pediatrics; Pilot Projects; Population; Population Database; Postdoctoral Fellow; Pregnant Women; Process; Provider; Public Health Nurses; Public Health Nursing; Research; Research Design; Research Personnel; Research Training; Resources; Scholarship; Services; Staging; Strategic Planning; Students; TNFRSF5 gene; Techniques; Testing; Time; Training; Training and Education; United States; Universities; Utah; Woman; Work; cost; cost effectiveness; design; education cost; experience; fetal medicine; graduate student; health disparity; health literacy; high risk; legal implication; member; multidisciplinary; new technology; next generation; prenatal; programs; public health relevance; screening; social implication

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.

描述（由申请人提供）：犹他州大学ELSI研究卓越中心（UCEER）将为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遗传条件进行人口筛查。我们的具体重点将是产前遗传筛查和新生儿筛查。我们将建立在我们的优势和经验，以开发一个合作，跨学科的研究和培训中心ELSI问题。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）我们将组织和协调一个跨学科的小组，由各合作机构的调查人员和支助人员组成; B）为至少两个R 0 I级项目制定战略计划，解决产前和新生儿遗传筛查中的尖端ELSI问题。 具体目标2：制定多学科ELSI培训和指导战略计划 a）进行教师和学生在大学的教育，培训和指导ELSI问题的需求评估。 B）制定教育、培训和辅导机会战略计划。 （c）制定一项战略计划，为来自区域服务不足社区的学生提供教育和奖学金。 具体目标3：试点研究 a）确定提供者如何向夫妇传达非整倍体筛查信息和选择 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。

项目成果

Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review.

• DOI: 10.1007/s10995-015-1869-9
• 发表时间: 2016-03
• 期刊: Maternal and child health journal
• 影响因子: 2.3
• 作者: Goldenberg AJ;Comeau AM;Grosse SD;Tanksley S;Prosser LA;Ojodu J;Botkin JR;Kemper AR;Green NS
• 通讯作者: Green NS

Whole Genome Sequencing and Newborn Screening.

全基因组测序和新生儿筛查。

• DOI: 10.1007/s40142-016-0084-3
• 发表时间: 2016
• 期刊: Current genetic medicine reports
• 影响因子: 2.1
• 作者: Botkin,JeffreyR;Rothwell,Erin
• 通讯作者: Rothwell,Erin