Leveraging an electronic medical record infrastructure to identify primary care patients eligible for genetic testing for hereditary cancer and evaluate novel cancer genetics service delivery models

资料摘要 本申请是为了响应被标识为NOT-CA的特别利益通知（NOSI）而提交的- 20-042.该申请是对犹他州大学（犹他州）/纽约的拟议行政补充 纽约大学U 01题为“利用电子医疗记录基础设施识别初级保健 有资格接受遗传性癌症基因检测的患者，并评估新型癌症遗传学服务的提供情况 型号”（U 01 CA 232826）。母公司U 01采用基于可复制电子健康记录（EHR）的 临床决策支持基础设施，以：（i）识别符合癌症资格的未受影响的初级护理患者 基于犹他州和纽约大学医疗保健系统现行指南的遗传学服务（目标1）;以及（ii） 比较了1,920名未受影响的初级保健患者的两种癌症遗传学服务模式， 随机对照试验（目标2和3）。母试验将研究种族和民族如何改变 癌症遗传学服务提供模式的影响。提供遗传学服务的前景 由于COVID-19大流行而发生了重大变化，我们的试点数据表明， 癌症基因检测和癌症筛查受到不利影响。这一补充将 为我们提供了无与伦比的机会，在两个研究地点调查COVID-19的影响， 不同的流行病背景。我们提出以下补充目标：（1）表征医疗保健 在22，208名初级保健患者中， 遗传性癌症的风险增加;以及（2）调查COVID-19如何影响初级保健患者的健康 决定和利用癌症遗传学服务。为了解决补充目标1，我们将抽象 EHR数据用于调查COVID-19诊断，SARS-CoV-2检测以及美国癌症筛查的延迟 确认队列。在被邀请参加试验的队列的子集中，我们假设， 被诊断出患有COVID-19或因COVID-19住院或取消癌症筛查， 影响试验参与。我们还将按研究中心（犹他州）调查这些COVID-19经历的差异 vs.种族/民族。为了解决补充目标2，在母试验的参与者中，我们将 研究COVID-19对健康、心理和财务的影响如何影响决策， 利用癌症遗传咨询和遗传检测，结合临床记录和 问卷调查数据。根据试点数据，我们假设那些自我报告健康状况较高的人， COVID-19的心理和经济影响将不太可能完成癌症基因检测。我们将 检查COVID-19的影响如何通过研究中心（犹他州vs. NYU）和种族/民族进行调整。在一起， 补充目标将使我们能够全面了解COVID-19如何影响 参与母试验的情况和结局。拟议的补充文件还将使我们能够审查 COVID-19是否正在扩大不同种族和民族使用癌症遗传学服务的差异。

SUPPLEMENT ABSTRACT This application is being submitted in response to the Notice of Special Interest (NOSI) identified as NOT-CA- 20-042. The application is a proposed administrative supplement to the University of Utah (Utah)/New York University (NYU) U01 entitled “Leveraging an electronic medical record infrastructure to identify primary care patients eligible for genetic testing for hereditary cancer and evaluate novel cancer genetics service delivery models” (U01 CA232826). The parent U01 is employing a replicable electronic health record (EHR)-based clinical decision support infrastructure to: (i) identify unaffected primary care patients who qualify for cancer genetics services based on current guidelines in the Utah and NYU healthcare systems (Aim 1); and (ii) compare two models of cancer genetics services delivery for 1,920 of these unaffected primary care patients in a randomized controlled trial (Aims 2 and 3). The parent trial will examine how race and ethnicity modify the effects of the cancer genetics services delivery models. The landscape for delivering genetics services has changed substantially due to the COVID-19 pandemic, and our pilot data suggest that patients’ uptake of cancer genetic testing and access to cancer screening has been adversely affected. This supplement would provide us with an unparalleled opportunity to investigate COVID-19 impacts in two study sites with very different pandemic contexts. We propose the following Supplemental Aims: (1) Characterize healthcare experiences related to COVID-19 among the cohort of 22,208 primary care patients identified as being at increased risk for hereditary cancer; and (2) Investigate how COVID-19 impacts primary care patients’ decisions about and utilization of cancer genetics services. To address Supplemental Aim 1, we will abstract EHR data to investigate COVID-19 diagnosis, SARS-CoV-2 testing, and delays in cancer screening in the identified cohort. Among the subset of the cohort invited to participate in the trial, we hypothesize that having been diagnosed with or hospitalized for COVID-19 or having had a cancelled cancer screening will negatively affect trial participation. We will also investigate differences in these COVID-19 experiences by study site (Utah vs. NYU) and race/ethnicity. To address Supplemental Aim 2, among participants in the parent trial, we will examine how the health, psychological, and financial impacts of COVID-19 affect decisions about and utilization of cancer genetic counseling and genetic testing using a combination of clinic records and questionnaire data. Based on pilot data, we hypothesize that those having higher self-reported health, psychological, and financial impacts of COVID-19 will be less likely to complete cancer genetic testing. We will examine how the effects of COVID-19 are modified by study site (Utah vs. NYU) and race/ethnicity. Together, the supplemental aims will allow us to build a comprehensive picture of how COVID-19 has affected participation in and outcomes of the parent trial. The proposed supplement would also allow us to examine whether COVID-19 is widening disparities in use of cancer genetics services by race and ethnicity.