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

描述（由申请人提供）：大多数（如果不是全部）人类疾病都有一个或多个遗传因素，这些遗传因素会导致病因、发生的可能性、严重程度以及对现有或实验性治疗的反应。人们普遍认为，确定一个人的基因构成的能力将导致更好的健康，改善治疗和更好地了解其他家庭成员的风险。然而，许多基因技术增加了患者、亲属、医生、健康保险公司和其他人心中的不确定性和困惑。Penn CEER将更好地定义这些问题，并提供减少不确定性问题的建议。宾夕法尼亚大学伦理、法律的和社会研究卓越中心（Penn CEER）的总体目标是开发工具，帮助消费者、专业人员、政策制定者和保险公司了解和科普基因技术产生的确定性和不确定性的范围。我们建议建立三个核心，以支持跨学科的ELSI研究，并计划在一开始就研究三种情况。初步研究将是：1）通过科学史学家、医学人类学家、生殖遗传学家、产前护理提供者和育龄妇女之间的合作，探索唐氏综合征和囊性纤维化携带者产前筛查的演变; 2）利用宾夕法尼亚大学遗传性出血性毛细血管扩张症卓越中心来探索症状前分子检测对护理高危人群的经济学的影响，以及患者和提供者对测试的效用和障碍的看法;以及3）跟踪一组接受BRCA 1和BRCA 2测试咨询的非裔美国人（和其他少数民族）妇女，以评估风险咨询和基因检测对自己及其家庭成员的长期心理，社会和医疗影响，重点是不确定性。作为前两个项目的一部分，我们在安纳伯格传播学院的调查人员将促进真实的小组审议，以探讨公众对正式调查结果的看法。三个初始项目中的每一个的结果，以及CEER支持的其他研究，将被考虑通过伦纳德戴维斯卫生经济学研究所的同事指导的研究到政策核心进行传播。Penn CEER的培训核心将通过竞争性过程提供博士后津贴，这将使研究员准备获得进一步的资金，以发展ELSI研究的职业生涯。此外，Penn CEER将作为其他Penn教师，其他CEER以及个人，志愿者支持团体，医疗保健服务支付者和调查人员的资源，用于教育遗传技术在确定性领域的影响。

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.