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

基因组时代的风险评估：患者和提供者的定性研究

• 批准号: 8032891
• 负责人: Lori Leonard
• 金额: $ 11.6万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-09-23 至 2012-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8032891
• 关键词: Accounting; Affect; Affective; Atherosclerosis; Belief; Body Image; Cause of Death; Chromosomes, Human, Pair 9; Collection; Consult; Control Groups; Coronary Arteriosclerosis; Data; Diabetes Mellitus; Disease; District of Columbia; Educational workshop; Family history of; Feasibility Studies; Feedback; Future; Genetic; Genetic Medicine; Genetic Risk; Genetic screening method; Genomics; Goals; Health; Health Personnel; Health Promotion; Health Status; Human Genetics; Interview; Knowledge; Life Cycle Stages; Life Style; Maintenance; Marketing; Measures; Medicine; Mentors; Modality; Modeling; Monitor; Mutation; Non-Insulin-Dependent Diabetes Mellitus; Participant; Patients; Physicians; Pilot Projects; Play; Policies; Prevention; Preventive; Primary Care Physician; Primary Health Care; Primary Prevention; Production; Professional counselor; Provider; Randomized; Regimen; Reporting; Research; Research Project Grants; Risk; Risk Assessment; Risk Factors; Ritual compulsion; Role; SNP genotyping; Sampling; Self Perception; Series; Shadowing (Histology); Shapes; Single Nucleotide Polymorphism; Staging; Study Subject; Test Result; Testing; Therapeutic; Time; Training; Training Activity; Training Programs; United States; Variant; Waiting Lists; behavioral/social science; career; clinical decision-making; design; disorder risk; early onset; experience; follow-up; genome wide association study; genome-wide; genome-wide analysis; information processing; literacy; loris; medical schools; pilot trial; programs; public health relevance; response; symposium; uptake

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.

描述（由申请人提供）：这个为期一年的指导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历程为重点的研究生涯扩展到新的方向。该项目包括一系列全面、精心策划的培训活动。其中包括跟随遗传咨询师、参加每周的病例会议、参加主要的国家和地区会议和教育研讨会、参加华盛顿特区的主要政策讨论以及完成人类遗传学的正式课程。它还包括一个指导研究项目，该项目将由约翰·霍普金斯医学院医学系的一个高产且经验丰富的研究小组进行。该研究项目涉及进行一系列试点访谈研究，这些研究嵌入在一项试验中，即遗传信息反馈试验（GIFT）。该试验是 GeneSTAR（动脉粥样硬化风险基因研究）研究计划和健康促进中心的一部分。该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有何反应，这些变异会增加 CAD 等常见疾病的风险。通过在美国销售的商业测试，这种类型的遗传信息变得更加广泛。此类遗传信息的广泛使用引发了公众关于此类信息是否对患者和医疗保健提供者有用的争论。患者和医疗保健提供者如何感知和使用这些信息仍然很大程度上未知。 GIFT 的参与者将获得三种可能情况之一的测试结果，并进行为期三个月的跟踪，以评估关于他们患 CAD 和 2 型糖尿病风险的标准化定量测量的变化；预防措施；并完成转诊给医生。拟议的试点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后续访谈来详细阐述试验结果。拟议的试点研究还使我们能够通过对初级保健医生和患者与提供者二人组的访谈来评估未来研究方向的可行性。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生产做出贡献。 公共健康相关性：拟议的研究项目是人类遗传学指导培训计划的一部分，是首批试验之一，旨在研究患者及其初级保健提供者如何理解和使用有关单核苷酸多态性（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定量结果，并旨在评估初级保健提供者研究的可行性以及患者与提供者界面研究的显着性。