Risk Assessment in the Genomic Era: A Qualitative Study of Patients and Providers

描述(由申请者提供)：这个为期一年的有指导的培训和研究项目将使PI，Lori Leonard博士获得人类遗传学方面的培训，并将她现有的以健康和生命过程为重点的研究生涯扩展到新的方向。该项目包括一套全面和精心安排的培训活动。这些措施包括跟踪遗传顾问，参加每周的案例会议，参加主要的国家和地区会议和教育研讨会，在华盛顿特区参加主要的政策讨论，以及完成人类遗传学的正式课程。它还包括一个有指导的研究项目，该项目将与约翰·霍普金斯医学院医学系的一个高生产率和经验丰富的研究小组一起进行。该研究项目包括进行一系列试验性访谈研究，这些研究嵌入了一项试验--遗传信息反馈试验(GIFT)。这项试验是GeneSTAR(动脉粥样硬化风险遗传研究)研究计划和健康促进中心的一部分。这项试验着眼于有早发性冠状动脉疾病(CAD)家族史的人对单核苷酸多态性(SNP)变异的全基因组信息的反应，这些变异会增加包括CAD在内的常见疾病的风险。通过在美国销售的商业测试，这种类型的基因信息变得更加广泛。这种类型的基因信息的广泛可获得性引发了关于此类信息是否对患者和医疗保健提供者有用的公开辩论。患者和卫生保健提供者如何感知和使用这些信息在很大程度上仍是未知的。GIFT的参与者将在三种可能情况中的一种情况下获得测试结果，并跟踪三个月，以评估关于他们患冠心病和2型糖尿病风险的标准化量化衡量标准的变化；预防措施；以及完成转介给医生。拟议的先导研究及时跟进了这项研究，使我们能够通过对研究对象的子集进行定性的后续访谈来详细说明试验结果。拟议的试点研究还使我们能够通过采访初级保健医生和患者-提供者二人组来评估未来研究路线的可行性。该项目预计将为伦纳德博士开辟新的研究领域，并帮助她继续为基础行为和社会科学知识的产生做出贡献。 公共卫生相关性：拟议的研究项目是人类遗传学指导培训计划的一部分，被嵌入首批试验之一，以考察患者和他们的初级保健提供者如何理解和使用关于单核苷酸多态(SNP)变异的全基因组信息，这些变异会增加常见疾病的风险。试点访谈研究将扩大试验的量化结果，并旨在评估与初级保健提供者进行研究的可行性，以及在患者与提供者之间进行研究的重要性。

DESCRIPTION (provided by applicant): This one-year mentored training and research project will allow the PI, Dr. Lori Leonard, to acquire training in human genetics and to extend her existing health- and life-course focused research career in new directions. The project includes a well-rounded and well-staged set of training activities. These include shadowing genetic counselors, attending weekly case conferences, participating in major national and regional conferences and educational workshops, attending major policy discussions in Washington, DC, and completing formal coursework in human genetics. It also includes a mentored research project that will be carried out with a highly productive and experienced research group in the Department of Medicine at the Johns Hopkins Medical School. The research project involves conducting a series of pilot interview studies that are embedded in a trial, the Genetic Information Feedback Trial (GIFT). The trial is part of the GeneSTAR (Genetic Study of Atherosclerosis Risk) Research Program and the Center for Health Promotion. The trial looks at how people with a family history of early onset coronary artery disease (CAD) respond to genome wide information on single nucleotide polymorphism (SNP) variants that increase risk for common diseases, including CAD. This type of genetic information is become more widely available through commercial tests marketed in the United States. The widespread availability of this type of genetic information has sparked public debate about whether such information is useful for patients and health care providers. How this information is perceived and used by patients and health care providers remains largely unknown. Participants in GIFT will be given their test results under one of three possible conditions and followed for three months to assess changes in standardized quantitative measures of beliefs about their risk for CAD and type 2 diabetes; preventive practices; and completion of referral to a physician. The proposed pilot studies follow this study in time, allowing us to elaborate on the trial findings with qualitative follow-up interviews with a sub-set of study subjects. The proposed pilot studies also allow us to assess the feasibility of future lines of research through interviews with primary care physicians and with patient-provider dyads. The project is expected to open up new lines of research for Dr. Leonard and assist her in continuing to contribute to the production of knowledge in the basic behavioral and social sciences. PUBLIC HEALTH RELEVANCE: The proposed research project, part of a mentored training program in human genetics, is embedded in one of the first trials to look at how patients and their primary care providers understand and use genome wide information on single nucleotide polymorphism (SNP) variants that increase risk for common diseases. The pilot interview studies will expand quantitative findings the trial and are also designed to assess the feasibility of studies with primary care providers and the salience of studies at the patient-provider interface.