Center for ELSI Research on Psychiatric Neurologic and Behavioral Genetics

描述（申请人提供）：对精神病学、神经病学和行为学（PNB）表型的遗传学研究揭示了一个复杂的全景，这产生了几个挑战：1）临床医生难以吸收和整合数据，患者和其他社会成员更难以理解和使用; 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，患者及其家属以及公众更好地利用不断发展的知识，我们建议制定关于PNB遗传学的ELSI研究卓越中心（CEER）的框架。在3年的时间里，我们将使用NHGRI的支持来完成以下工作：具体目标1 -在PNB遗传学中进行伦理，法律的和社会问题的试点研究，旨在确定哥伦比亚大学CEER调查的生产领域。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遗传学检测）;（B）遗传信息对患者和家庭的自我形象、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;以及（c）PNB基因数据如何影响道德和刑事责任的判断（即，对具有犯罪行为遗传倾向的人的犯罪定罪和判刑）。具体目标2-发展必要的知识和行政基础设施，以支持制定P5 O申请的CEER集中在PNB遗传学。为了实现这一目标，我们将与医学，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的背景编织在一起的教师。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。我们在纽约的地理位置，其医疗中心和教育机构的巨大集中，将使我们能够与我们的同事在城市的其他CTSA网站，使我们的培训机会提供给他们的学员和调查人员。 相关性：随着易患精神病、神经病和行为障碍的遗传变异被鉴定出来，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，关于测试繁殖和公共政策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。

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.