Center for ELSI Research on Psychiatric Neurologic and Behavioral Genetics

描述（由申请人提供）：对精神病学、神经学和行为学（PNB）表型的遗传学研究揭示了一个复杂的全景，带来了几个挑战：1)临床医生很难吸收和整合这些数据到他们的实践中，患者和社会其他成员更难理解和使用；2)由于PNB遗传学家研究的特征通常对我们的自我认知有重要意义，新的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，以帮助临床医生、患者及其家属和公众更好地利用不断发展的知识为目标，我们建议建立PNB遗传学ELSI研究卓越中心（CEER）的框架。在3年的时间里，我们将利用NHGRI的支持来实现以下目标：具体目标1 -开展PNB遗传学的伦理、法律和社会问题的试点研究，旨在为哥伦比亚大学的CEER确定有效的调查领域。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表型的基因检测（包括植入前遗传学诊断和产前基因检测）；(b)遗传信息对患者和家属的自我形象、宿命论、求助和其他健康行为的影响，以及包括种族在内的修正因素；(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的罪行和量刑）。具体目标2-开发必要的知识和管理基础设施，以支持制定p50申请，以PNB遗传学为重点的CEER。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 -设计培训活动，与其他机构合作，使哥伦比亚大学CEER能够对未来的ELSI研究人员进行有效培训，特别关注代表性不足的少数民族人口。我们在纽约市的地理位置，集中了大量的医疗中心和教育机构，这将使我们能够与纽约市其他CTSA站点的同事合作，为他们的受训者和调查员提供我们的培训机会。

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.