Managing Incidental Findings in the Genomic Era

描述(由申请人提供)：本申请涉及广泛的挑战领域(01)行为，行为改变，以及预防和特定挑战主题，01-GM-104：行为改变研究的机制。向临床患者或预期研究对象披露基因组IF的前景或发现是一个充满伦理、法律、社会和实践挑战的领域。随着基因组广泛关联研究和染色体微阵列分析的出现，这些挑战被放大了。对于研究人员、临床医生、研究对象、患者和政策制定者来说，确定IF的潜力以及如何将这种潜力用于GWAS、CMA和其他基因组研究和临床应用是一个新的前景。这项研究的目的是研究如何在全球遗传资源评估和气候变化评估的背景下处理综合生态系统的前景，并确定未来研究和考虑的关键领域，以促进在伦理、法律和社会方面无害的政策和基因组综合系统管理的最佳做法。该研究项目的具体目标是：1)审查目前如何在研究和相关临床应用的患者教育和知情同意材料中阐述基因组IF的前景；2)确定围绕基因组IF的问题是如何定义的，以及如何最好从以下角度处理这些问题：a)卫生专业人员，包括从事基因组技术工作的临床医生和进行基因组研究的研究人员；b)IRBs，包括可能参与审查基因组方案或利用CMA等基因组工具审查方案的IRB主席；c)不同的公众成员，包括不同种族、文化和宗教群体的代表，以及接受CMA测试的儿童的父母；3)将来自AIMS 1和2的数据综合成基因组IF问题以及利益相关者偏好和看法的模型分类法，该分类法有可能支持关于在基因组测试和研究中披露和发现IF的决策；以及，4)将该分类法传播给利益相关者团体，以供他们评估其在权衡影响基因组测试中关于IF披露决策的因素以及确定与基因组研究和临床实践中围绕IF的问题相关的优先事项方面的效用。数据将从调查和访谈中获得和分析，这些调查和访谈涉及使用GWAS的研究人员、使用CMA的临床医生以及不同领域的公众利益相关者。这里的基线数据在确定预先披露基因组IF方面的可能趋势和差距方面将非常有价值，并将作为关于这一领域未来研究和实践指南的建议的基线。这项研究研究将是第一批探索在GWAS和CMA中发现和发现综合生物系统的研究之一，产生一个有可能支持与基因组综合生物系统的前景和发现相关的决策的分类法，并确定在这一重要的伦理问题领域进行未来研究和对话的机会。旨在确定疾病或健康问题是否有遗传原因的实验室测试有时会有其他异常发现。目前，还没有关于如何告知人们这种可能性或确定人们何时以及如何想要了解这种信息的指导方针。为了制定政策，告知人们这些意外发现的可能性和管理，需要了解接受这些测试的人及其医生出于临床诊断或研究目的而要求进行这些测试的偏好。

DESCRIPTION (provided by applicant): This application addresses broad Challenge Area (01) Behavior, Behavioral Change, and Prevention and specific Challenge Topic, 01-GM-104: Mechanisms of Behavior Change Research. Disclosing the prospect or discovery of genomic IFs to clinical patients or prospective research subjects is an area fraught with ethical, legal, social, and practical challenges. These challenges are being magnified with the advent of Genome Wide Association Studies (GWAS) and Chromosomal Microarray Analysis (CMA). The potential for identifying IFs and how this potential should be addressed for GWAS, CMA, and other genomic research and clinical applications is a novel prospect with which researchers, clinicians, research subjects, patients, and policy makers have limited experience. The Purpose of this research is to examine how the prospect of IFs is addressed in the context of GWAS and CMA, and to identify key areas for future research and consideration in the longer-term effort to promote ethically, legally, and socially sound policies and best practices for the management of genomic IFs. The Specific Aims of the research project are to: 1) examine how the prospect of genomic IFs is currently articulated in patient education and informed consent materials in research and related clinical application; 2) determine how the issues surrounding genomic IFs are defined and how they would preferably be handled from the perspectives of: a) health professionals, including clinicians working with genomic technologies and investigators conducting genomic research; b) IRBs, including IRB Chairs potentially involved in the review of genomic protocols or protocols making use of genomic tools such as CMA; and c) diverse members of the public, including representatives of different ethnic, cultural and religious groups, and parents of children who have had CMA testing; 3) synthesize data from Aims 1 and 2 into a model taxonomy of genomic IF issues and stakeholder preferences and perceptions that has the potential to support decisions regarding disclosure and discovery of IFs in genomic testing and research; and, 4) disseminate the taxonomy to stakeholder groups for their assessment of its utility in weighing factors affecting decisions regarding disclosure of IFs in genomic testing and their identification of priorities relevant to issues surrounding IFs in genomic research and clinical practice. Data will be obtained and analyzed from surveys and interview with researchers using GWAS, clinicians using CMA, and a cross section of public stakeholders. Baseline data here will be highly valuable in terms of identifying possible trends and gaps in upfront disclosure of genomic IFs, and will serve as a baseline for recommendations concerning future research and practice guidelines in this area. This research study will be among the first to explore the prospect and discovery of IFs in GWAS and CMA, to generate a taxonomy with the potential to support decision making related to the prospect and discovery of genomic IFs, and to identify opportunities for future research and dialogue in this important area of ethical concern. Laboratory tests designed to determine if there is a genetic cause for a disease or health problem can sometimes have other abnormal findings. Currently, there are not guidelines for how to inform people of this possibility or to determine when and how people would want to learn this information. The preferences of people who have these tests and their physicians who order them for clinical diagnosis or research purposes are needed to establish policies on informing people of the possibility and management of these unanticipated findings.