Assessing Attitudes and Experiences of Early Adopters of Personalized Genomics

描述（由申请人提供）：该申请涉及广泛的挑战领域（02）生物伦理学和特定的挑战主题，02- hg -102直接面向消费者（DTC）个人基因组学-伦理，法律和社会影响研究。人类基因组和人类HapMap计划的完成使研究将遗传变异与各种癌症、冠状动脉疾病和糖尿病等复杂疾病联系起来成为可能。这导致了直接面向消费者的检测公司的出现，这些公司提供基因组分析，以告知个人他们患数十种疾病和特征的风险。提供这种检测的假设是，确定风险增加可能导致采取预防措施，以减少一个人患病的风险或改善疾病的后果。尽管个性化医疗正在获得临床和政策的关注，并且在技术上似乎是可行的，但公众对这种护理的理解和看法，以及他们对其风险和益处的评估，都知之甚少。我们正在提议一个项目，利用宾夕法尼亚大学研究人员的专业知识来调查公众对个性化医疗的反应。拟议的研究将利用在新泽西州卡姆登的科利尔研究所进行的科利尔个性化医疗合作（CPMC）。CPMC旨在通过为参与者提供针对各种疾病的个性化基因组风险评估和收集有关健康结果的数据，确定个性化医疗的临床效用。虽然不是直接面向消费者的公司，但CPMC的研究提供了一个独特的机会来评估直接可用的个性化基因组风险评估的社会、行为和伦理影响。我们项目的具体目标是：1)评估对CPMC感兴趣的个人进行个性化基因组风险评估的动机和感知效用；2)探索参与者对其结果的理解、信息的使用和教育需求；3)为个性化基因组疾病风险评估的伦理提供制定政策建议。我们将使用混合方法来解决这些研究目标。对于具体目标1，我们将调查大约1000名注册参加CPMC知情同意会议的个人，无论他们是否实际参加或提供测试样本。对于具体目标2，我们将在收到结果3-6个月后采访60名CPMC参与者。为了实现具体目标3，我们将与宾夕法尼亚大学遗传医疗技术整合中心（Penn CIGHT）的研究-政策核心成员合作，制定和传播政策建议，以负责任和合乎道德的方式提供基因组检测，考虑到消费者的误解、担忧和教育需求。随着直接面向消费者的基因组检测变得越来越普遍，需要制定政策和教育材料，以确保医疗保健消费者从这种类型的检测中获得最大利益。该项目将查明有机会进行基因组风险评估的各种保健消费者群体的误解、关切和教育需求。这项研究的结果将成为直接向消费者提供基因组检测的伦理政策建议的基础。

DESCRIPTION (provided by applicant): This application addresses broad Challenge Area (02) Bioethics and specific Challenge Topic, 02-HG-102 Direct to Consumer (DTC) Personal Genomics-Ethical, Legal and Social Implications Research. Completing the Human Genome and the Human HapMap Projects has enabled studies associating genetic variation with complex diseases such as various cancers, coronary artery disease, and diabetes. This has led to the emergence of direct-to-consumer testing companies offering genomic profiling to inform individuals about their risk for dozens of diseases and traits. Such testing is being offered with the assumption that identification of an increased risk could lead to preventative measures to reduce a person's risk for developing disease or to improve disease outcome. Although personalized medicine is gaining clinical and policy attention and appears to be technically feasible, little is known about the public's understanding and perceptions of such care, nor about their assessment of its risks and benefits. We are proposing a project that capitalizes on the expertise of researchers at the University of Pennsylvania to investigate public response to personalized medicine. The proposed study will take advantage of the Coriell Personalized Medicine Collaborative (CPMC) conducted at the Coriell Institute in Camden, NJ. The CPMC aims to determine the clinical utility of personalized medicine by offering participants a personalized genomic risk assessment for a variety of diseases and collecting data on health outcomes. While not a direct-to-consumer company the CPMC study offers a unique opportunity to assess the social, behavioral, and ethical implications of direct availability of personalized genomic risk assessment. The specific aims of our project are to: 1) Assess motivations and perceived utility of personalized genomic risk assessment among individuals who express interest in the CPMC; 2) Explore participant understanding of their results, the use of the information, and educational needs; and 3) Develop policy recommendations for the ethical offering of personalized genomic disease risk assessment. We will use a mixed methodology for addressing these study aims. For specific aim 1, we will survey approximately 1000 individuals who register for a CPMC informed consent session, regardless of whether they actually attend or provide a sample for testing. For specific aim 2, we will interview 60 CPMC participants 3-6 months after they receive their results. For specific aim 3, we will work with members of the research-to-policy core of the Penn Center for the Integration of Genetic Healthcare Technologies (Penn CIGHT) to develop and disseminate policy recommendations for the responsible and ethical offering of genomic tests that takes into account the misperceptions, concerns, and educational needs of consumers. As direct-to-consumer genomic testing becomes more common, policies and educational materials are needed to ensure that health care consumers derive maximal benefit from this type of testing. This project will identify misperceptions, concerns and educational needs of a diverse group of health care consumers who are offered the opportunity to have genomic risk assessment. Findings from this study will be the basis of policy recommendations for the ethical offering of genomic testing directly to the consumer.