Center for ELSI Research on Psychiatric Neurologic and Behavioral Genetics

描述(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幅复杂的全景图，这带来了几个挑战：1)临床医生难以吸收这些数据并将其融入他们的实践，患者和其他社会成员更难理解和使用这些数据；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，新数据可能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、患者及其家属和普通公众更好地利用不断发展的知识，我们建议建立PNB遗传学ELSI卓越研究中心(CEER)的框架。在三年的时间里，我们将利用NHGRI的支持来实现以下目标：具体目标1-对PNB遗传学中的伦理、法律和社会问题进行试点研究，旨在为哥伦比亚大学的CEER确定富有成效的调查领域。试点研究将使用基于互联网的调查和直接访谈来检查(A)临床医生如何了解和使用PNB表型的基因测试(包括植入前基因诊断和产前基因测试)；(B)基因信息对患者及其家人的自我形象、宿命论、求助和其他健康行为的影响，以及修改因素，包括种族；以及(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--发展必要的智力和行政基础设施，以支持制定以PNB遗传学为重点的CEER的P5O申请。为了实现这一目标，我们将把具有医学、公共卫生、遗传咨询、心理学、社会学、法学、社会工作和其他研究领域背景的教师联系在一起。具体目标3--与其他机构合作开展设计培训活动，使哥伦比亚的CEER能够对未来的ELSI调查员进行有效培训，特别侧重于代表性不足的少数群体。我们在纽约市的地理位置非常集中，医疗中心和教育机构非常集中，这将使我们能够与CTSA在该市其他地点的同事合作，为他们的受训者和调查人员提供我们的培训机会。 相关性：随着导致精神、神经和行为障碍的基因变异被识别，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定，例如关于检测、生殖和公共政策的决定。一个专注于这些问题并能够产生有意义的研究数据的CEER可以确定当前的挑战，并帮助提出解决方案。

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.