Analysis of BRCA Testing Patterns Using the Utah Population Database

使用犹他州人口数据库分析 BRCA 检测模式

• 批准号: 9233674
• 负责人: Wendy K Kohlmann
• 金额: $ 7.58万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-25 至 2019-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9233674
• 关键词: Address; Affect; BRCA1 gene; Cities; Clinical; Collaborations; Communities; Community Clinical Oncology Program; Country; DNA Sequence Alteration; Data; Data Set; Databases; Documentation; Effectiveness; Ensure; Epidemiology; Ethnic Origin; Evaluation; Family; Family history of; Family member; Genealogy; General Population; Genes; Genetic Counseling; Genetic Services; Genetic screening method; Goals; Guidelines; Healthcare; Healthcare Systems; Hereditary Breast and Ovarian Cancer Syndrome; Hispanics; Individual; Institutes; Insurance; Insurance Coverage; Laboratories; Link; Location; Malignant Neoplasms; Malignant neoplasm of ovary; Marketing; Medical; Medical Genetics; Medical Records; Methodology; Mutation; National Comprehensive Cancer Network; Operative Surgical Procedures; Other Genetics; Outcome; Patient risk; Patients; Pattern; Population Database; Prevention; Prevention strategy; Preventive; Professional Organizations; Provider; Public Health; Questionnaires; Race; Recording of previous events; Records; Research; Research Subjects; Resources; Risk; Role; Rural; Rural Community; Rural Population; Socioeconomic Status; Sodium Chloride; Specialist; Testing; Underserved Population; United States Department of Veterans Affairs; Universities; Utah; base; cancer diagnosis; clinical practice; family structure; genetic panel test; high risk; malignant breast neoplasm; meetings; mutation carrier; novel; patient subsets; precision medicine; public health priorities; screening; socioeconomics; study population; uptake; urban area

PROJECT SUMMARY Individuals with BRCA1/2 mutation carriers have substantially elevated risk for breast and ovarian cancer, and they can benefit greatly from increased screening and preventive surgeries. Therefore appropriate identification of high risk individuals is an important public health priority and a quintessential example of precision medicine approaches. Widespread efforts have been made by professional organizations and health care systems to encourage providers to screen family histories and offer appropriate referrals for genetic testing and counseling, and there have been substantial marketing efforts directed toward the general public. However, little is known about whether these efforts are increasing the appropriate use of testing among families with greatest risk for having mutation. Current studies looking at the use of genetic testing have relied on chart review, questionnaires or insurance databases which only capture small subsets of patients. This study will addressing these limitations through an unprecedented collaboration between the major healthcare systems across the state, commercial genetic testing laboratories, and the epidemiologic resource of the Utah Population Database (UPDB). Through this study, clinical genetic testing information from the University of Utah, Intermountain Healthcare, the Salt Lake City Veterans Administration, and leading community oncology provider, Utah Cancer Specialists, will be linked to the genealogy, cancer, demographic and socioeconomic information in the UPDB. An estimated 316,000 individuals have been identified in the UPDB as meeting current guidelines for evaluation for hereditary breast/ovarian cancer. By linking these individuals to genetic testing records, we will interrogate many important questions including utilization of genetic testing for hereditary breast/ovarian cancer across the state and across healthcare systems and identifying barriers to appropriate genetic testing in underserved populations. This study is highly generalizable as healthcare systems across the country are addressing the challenges of providing genetic services. Utah's rural and Hispanic populations provide an opportunity to evaluate the use of genetic testing in communities that have not been widely studied. Access to data across healthcare systems is crucial for ensuring meeting national goals for more tailored and efficient healthcare.

项目概要 BRCA1/2 突变携带者患乳腺癌和卵巢癌的风险显着升高，并且 他们可以从增加筛查和预防性手术中受益匪浅。因此适当 识别高风险个体是一项重要的公共卫生优先事项，也是预防高危人群的典型例子 精准医学方法。专业组织和卫生部门做出了广泛努力 护理系统鼓励提供者筛查家族史并提供适当的遗传转介 测试和咨询，并且针对公众进行了大量的营销工作。 然而，人们对这些努力是否正在增加测试的适当使用却知之甚少。 突变风险最大的家庭。目前关于基因检测使用的研究依赖于 图表审查、问卷调查或保险数据库仅捕获一小部分患者。这 研究将通过主要医疗保健机构之间前所未有的合作来解决这些限制 整个州的系统、商业基因检测实验室以及犹他州的流行病学资源 人口数据库（UPDB）。通过这项研究，来自英国大学的临床基因检测信息 犹他州、Intermountain Healthcare、盐湖城退伍军人管理局和领先的社区肿瘤学 提供者，犹他州癌症专家，将与谱系、癌症、人口和社会经济联系起来 UPDB 中的信息。 UPDB 中估计有 316,000 人被确定为会议成员 当前遗传性乳腺癌/卵巢癌评估指南。通过将这些个体与遗传联系起来 检测记录，我们将询问许多重要问题，包括基因检测的利用 整个州和整个医疗系统的遗传性乳腺癌/卵巢癌，并确定其障碍 对服务不足的人群进行适当的基因检测。这项研究作为医疗保健具有高度普遍性 全国各地的系统正在应对提供遗传服务的挑战。犹他州的农村和 西班牙裔人口提供了一个机会来评估基因检测在尚未进行基因检测的社区中的使用情况。 被广泛研究。跨医疗保健系统访问数据对于确保实现国家目标至关重要 提供更定制、更高效的医疗保健。