Analysis of BRCA Testing Patterns Using the Utah Population Database

项目总结 携带BRCA1/2突变携带者的人患乳腺癌和卵巢癌的风险大大增加，而且 他们可以从更多的筛查和预防性手术中受益匪浅。因此适当的 识别高危个人是一项重要的公共卫生优先事项，也是 精准医学即将到来。专业组织和卫生组织做出了广泛的努力 保健系统，鼓励提供者筛查家族史并为遗传疾病提供适当的转介 测试和咨询，并有针对普通公众的大量营销努力。 然而，关于这些努力是否正在增加测试在 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 在图表审查、问卷调查或保险数据库中，只收集一小部分患者。这 研究将通过主要医疗保健公司之间史无前例的合作来解决这些限制 全州的系统、商业基因测试实验室和犹他州的流行病学资源 人口数据库(UPDB)。通过这项研究，临床基因检测信息来自加州大学 犹他州、山间医疗保健、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家谱、癌症、人口统计和社会经济联系在一起 UPDB中的信息。据估计，在UPDB中有316,000人被确定为会议 遗传性乳腺癌/卵巢癌的现行评估指南。通过将这些个体与基因联系起来 检测记录，我们将询问许多重要的问题，包括利用基因检测 跨州和跨医疗系统的遗传性乳腺癌/卵巢癌，并确定 在服务不足的人群中进行适当的基因测试。这项研究可以高度概括为医疗保健 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 拉美裔人口提供了一个机会来评估基因检测在没有 得到了广泛的研究。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 以获得更有针对性和更高效的医疗保健。

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.