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，行为变化和预防以及特定的挑战主题，01-GM-104：行为变化研究机制。向临床患者或前瞻性研究对象披露基因组IF的前景或发现是一个充满伦理、法律的、社会和实践挑战的领域。随着全基因组关联研究（GWAS）和染色体微阵列分析（CMA）的出现，这些挑战正在被放大。鉴定IF的潜力以及如何在GWAS、CMA和其他基因组研究和临床应用中解决这种潜力是一个新的前景，研究人员、临床医生、研究对象、患者和政策制定者的经验有限。本研究的目的是研究如何在GWAS和CMA的背景下解决国际金融机构的前景，并确定未来研究的关键领域，并在长期努力中考虑促进伦理，法律和社会健全的政策和最佳实践，用于基因组国际金融机构的管理。该研究项目的具体目标是：1）研究基因组IF的前景目前如何在研究和相关临床应用中的患者教育和知情同意材料中表达; 2）确定如何定义围绕基因组IF的问题，以及如何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调查人员; B）IRB，包括可能参与审查基因组方案或使用基因组工具（如CMA）的方案的IRB主席;及c）不同的公众人士，包括不同种族、文化及宗教团体的代表，以及曾接受CMA测试的儿童的家长; 3）将目标1和2的数据综合成基因组IF问题和利益相关者偏好和看法的模型分类，该模型分类有可能支持关于基因组测试和研究中IF的披露和发现的决策;以及，4）向利益相关者群体传播分类法，以评估其在权衡影响基因组检测中IF披露决策的因素方面的效用，并确定与基因组研究和临床实践中IF相关问题的优先级。数据将从使用GWAS的研究人员、使用CMA的临床医生和公共利益相关者的调查和访谈中获得和分析。这里的基线数据在识别基因组IF的预先披露的可能趋势和差距方面将是非常有价值的，并将作为关于该领域未来研究和实践指南的建议的基线。这项研究将是第一个探索GWAS和CMA中IFs的前景和发现的研究，以产生一个分类学，该分类学有可能支持与基因组IFs的前景和发现相关的决策，并确定未来在这一重要的伦理问题领域进行研究和对话的机会。旨在确定疾病或健康问题是否有遗传原因的实验室检查有时会有其他异常结果。目前，还没有指导方针来告诉人们这种可能性，或者确定人们何时以及如何想要了解这些信息。需要了解接受这些检查的人以及为临床诊断或研究目的而安排这些检查的医生的偏好，以制定政策，告知人们这些意外发现的可能性和管理方法。

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.