Penn Center for ELSI Research in Emerging Genetic Technologies in Health Care

宾夕法尼亚大学医疗保健新兴遗传技术 ELSI 研究中心

• 批准号: 7502247
• 负责人: REED E PYERITZ
• 金额: $ 104.89万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-09-27 至 2012-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7502247
• 关键词: African American; Age; BRCA1 gene; BRCA2 gene; Caring; Collaborations; Communication; Confusion; Counseling; Cystic Fibrosis; Down Syndrome; Economics; Evolution; Faculty; Family member; Funding; Genetic; Genetic screening method; Goals; Health; Health Services; Healthcare; Hereditary hemorrhagic telangiectasia; Individual; Institutes; Insurance Carriers; Investigation; Lead; Medical; Mind; Molecular; Other Minority; Other Resources; Patients; Pennsylvania; Perception; Persons; Policies; Policy Maker; Prenatal care; Process; Provider; Relative (related person); Research; Research Personnel; Risk; Schools; Science; Screening procedure; Severities; Suggestion; Support Groups; Testing; Time; Training; Uncertainty; Universities; Woman; career; cohort; coping; ethical legal social implication; genetic technology; health economics; human disease; improved; prenatal; psychologic; reproductive; response; social; tool; volunteer

DESCRIPTION (provided by applicant): Most, if not all, human diseases have one or more genetic factors that contribute to cause, likelihood of occurrence, severity, and response to existing or experimental treatments. There is a general perception that the ability to define a person's genetic makeup will lead to better health, improved treatments and a better understanding of risks to other family members. However, many genetic technologies increase uncertainty and confusion in the minds of patients, relatives, doctors, health insurers and others. The Penn CEER will define these issues better and offer suggestions for reducing the problems of uncertainty. The overall goal of the Center of Excellence for Ethical, Legal and Social Research at the University of Pennsylvania (Penn CEER) is to develop tools that will help consumers, professionals, policy makers and insurers understand and cope with the scope of certainty and uncertainty that genetic technologies engender. We propose to establish three cores to support transdisciplinary ELSI research and plan to study three situations at the outset. The initial studies will be: 1) To explore the evolution of prenatal screening for Down syndrome and cystic fibrosis carrier screening through a collaboration between historians of science, medical anthropologists, reproductive geneticists, prenatal care providers and women of reproductive age; 2) To utilize the Penn Center of Excellence for Hereditary Hemorrhagic Telangiectasia to explore the impact of presymptomatic molecular testing on the economics of caring for people at risk, and patient and provider perceptions of the utility of and barriers to testing; and 3) To follow a cohort of African-American (and other minority) women who have been counseled for testing of BRCA1 and BRCA2 to assess the longer-term psychological, social, and medical impact of risk counseling and genetic testing on themselves and their family members, with a focus on uncertainty. As part of the first two projects, group deliberations in real time will be facilitated by our investigators in the Annenberg School for Communication to explore public perceptions about the results of the formal investigations. The results of each of the three initial projects, and additional studies supported by the CEER, will be considered for dissemination through the Research-to-Policy Core, directed by colleagues in the Leonard Davis Institute of Health Economics. The Training Core of the Penn CEER will provide postdoctoral stipends, through a competitive process, which will prepare fellows to obtain further funding to develop a career in ELSI research. Additionally, the Penn CEER will serve as a resource for other Penn faculty, for other CEERs, and for individuals, volunteer support groups, payers of health care services and investigators, for educating about the implications of genetic technologies in terms of the realms of certainty.

描述（由申请人提供）：大多数（如果不是全部）人类疾病具有导致，发生，严重性和对现有或实验性治疗的反应的一种或多种遗传因素。人们普遍认为，定义一个人的遗传构成的能力将带来更好的健康，改善治疗方法，并更好地了解其他家庭成员的风险。但是，许多遗传技术会增加患者，亲戚，医生，健康保险公司和其他人的心目中的不确定性和困惑。 Penn Ceer将更好地定义这些问题，并为减少不确定性问题提供建议。宾夕法尼亚大学（Penn Ceer）的道德，法律和社会研究卓越中心的总体目标是开发工具，以帮助消费者，专业人士，政策制定者和保险公司理解并应对遗传技术的确定性和不确定性范围。我们建议建立三个核心，以支持跨学科的ELSI研究，并计划一开始研究三种情况。最初的研究将是：1）探索唐氏综合症和囊性纤维化携带者筛查产前筛查的演变，通过科学史学家，医学人类学家，生殖遗传学家，产前护理提供者和生殖年龄妇女之间的合作。 2）利用宾夕法尼亚州卓越中心的遗传性出血性毛细血管扩张来探索预症状的分子测试对照顾有风险的人的经济学以及患者和提供者对测试效用和障碍的影响； 3）跟随一群非裔美国人（和其他少数族裔）妇女，她们接受了BRCA1和BRCA2测试的咨询，以评估风险咨询和基因测试对自己及其家人的长期心理，社会和医学影响，重点是不确定性。作为前两个项目的一部分，我们在安嫩伯格学院的调查人员将促进小组审议，以探讨公众对正式调查结果的看法。这三个初始项目中的每一个的结果以及CEER支持的其他研究将被考虑通过研究对政策核心的传播，该核心由伦纳德·戴维斯卫生经济学研究所的同事指导。 Penn Ceer的训练核心将通过竞争过程提供博士后津贴，该过程将为研究员准备进一步的资金，以发展ELSI研究的职业。此外，Penn Ceer将作为其他宾夕法尼亚州教职员工，其他首席执行官以及个人，志愿者支持小组，卫生保健服务付款人和研究人员的资源，以教育遗传技术对确定性领域的影响。