Center for ELSI Research on Psychiatric Neurologic and Behavioral Genetics

ELSI 精神神经和行为遗传学研究中心

• 批准号: 8141550
• 负责人: Paul Stuart Appelbaum
• 金额: $ 0.21万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-06-01 至 2013-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8141550
• 关键词: Affect; Area; Behavior Disorders; Behavioral; Behavioral Genetics; Cities; Collaborations; Crime; Data; Drug Formulations; Ethnic Origin; Faculty; Family; Future; General Population; Genetic; Genetic Counseling; Genetic screening method; Guilt; Health behavior; Institution; Internet; Interview; Investigation; Judgment; Knowledge; Laws; Medical center; Medicine; Morals; National Human Genome Research Institute; Neurologic; Patients; Persons; Phenotype; Pilot Projects; Population; Preimplantation Diagnosis; Psychology; Public Health; Public Policy; Reproduction; Research; Research Infrastructure; Research Personnel; Self Perception; Site; Social Work; Societies; Sociology; Solutions; Surveys; Testing; Training; Training Activity; Underrepresented Minority; Universities; Work; base; criminal behavior; design; ethical legal social implication; genetic variant; help-seeking behavior; member; prenatal; psychogenetics; response; trait

DESCRIPTION (provided by applicant): Research on the genetics of Psychiatric, Neurologic, and Behavioral (PNB) phenotypes reveals a panorama of complexity that creates several challenges: 1) the data are difficult for clinicians to assimilate and integrate into their practices, and even more so for patients and other members of society to understand and use; 2) because the traits investigated by PNB geneticists often have significance for our self-perceptions, new data can challenge our self-images in fundamental ways. In response to these challenges, with the objective of helping clinicians, patients and their families, and the general public better use evolving knowledge, we propose to develop the framework for a Center of Excellence in ELSI Research (CEER) on PNB Genetics. Over a 3-year period, we will use NHGRI support to accomplish the following: Specific Aim 1 - Conduct pilot studies on ethical, legal and social issues in PNB genetics aimed at identifying productive areas of investigation for a CEER at Columbia University. Pilot studies will use internet-based surveys and direct interviews to examine (a) how clinicians understand and use genetic tests for PNB phenotypes (including preimplantation genetic diagnosis and prenatal genetic testing); (b) the impact of genetic information on patients' and families' self-image, fatalism, help-seeking, and other health behaviors, and modifying factors, including ethnicity; and (c) how PNB genetic data affect judgments of moral and criminal responsibility (i.e., guilt and sentencing for crimes by persons with genetic propensities to criminal behavior). Specific Aim 2- Develop the intellectual and administrative infrastructure necessary to support the formulation of a P5O application for a CEER focused on PNB genetics. To accomplish this, we will knit together faculty with backgrounds in medicine, public health, genetic counseling, psychology, sociology, law, social work, and other areas of study. Specific Aim 3 - Design training activities, in collaboration with other institutions that will enable a Columbia CEER to conduct effective training of future ELSI investigators, with a particular focus on under-represented minority populations. Our geographic situation in NYC, with its enormous concentration of medical centers and educational institutions, will allow us to work with our colleagues at the other CTSA sites in the city to make our training opportunities available to their trainees and investigators. RELEVANCE: As the genetic variants predisposing to psychiatric, neurologic and behavioral disorders are identified, clinicians, patients/families, and the public need to be able to use this information to make good decisions, e.g., about testing, reproduction, and public policy. A CEER focused on these issues and capable of generating meaningful research data, can identify current challenges, and help suggest solutions.

描述（由申请人提供）：对精神病学、神经学和行为（PNB）表型的遗传学研究揭示了复杂性的全景，这带来了一些挑战：1）临床医生很难吸收这些数据并将其融入到他们的实践中，甚至更要让患者和其他社会成员理解和使用； 2）由于 PNB 遗传学家研究的特征通常对我们的自我认知具有重要意义，因此新数据可以从根本上挑战我们的自我形象。为了应对这些挑战，为了帮助临床医生、患者及其家人以及公众更好地利用不断发展的知识，我们建议为 PNB 遗传学 ELSI 研究卓越中心 (CEER) 开发框架。在 3 年期间，我们将利用 NHGRI 的支持来实现以下目标： 具体目标 1 - 对 PNB 遗传学中的伦理、法律和社会问题进行试点研究，旨在确定哥伦比亚大学 CEER 的富有成效的研究领域。试点研究将使用基于互联网的调查和直接访谈来检查（a）临床医生如何理解和使用PNB表型基因检测（包括植入前基因诊断和产前基因检测）； (b) 遗传信息对患者和家人的自我形象、宿命论、寻求帮助和其他健康行为以及改变因素（包括种族）的影响； (c) PNB 基因数据如何影响道德和刑事责任的判断（即具有犯罪行为遗传倾向的人对犯罪的有罪和判刑）。具体目标 2 - 开发必要的知识和管理基础设施，以支持针对 PNB 遗传学的 CEER 制定 P5O 申请。为了实现这一目标，我们将汇集具有医学、公共卫生、遗传咨询、心理学、社会学、法律、社会工作和其他研究领域背景的教师。具体目标 3 - 与其他机构合作设计培训活动，使哥伦比亚 CEER 能够对未来的 ELSI 调查员进行有效的培训，特别关注代表性不足的少数群体。我们位于纽约市，医疗中心和教育机构非常集中，这使得我们能够与该市其他 CTSA 站点的同事合作，为他们的学员和调查人员提供培训机会。 相关性：随着易患精神、神经和行为障碍的基因变异的确定，临床医生、患者/家庭和公众需要能够利用这些信息做出正确的决策，例如关于检测、生殖和公共政策的决策。 CEER 专注于这些问题，能够生成有意义的研究数据，可以识别当前的挑战，并帮助提出解决方案。