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

项目摘要 识别具有遗传性癌症易感性的个体对于靶向癌症预防、筛查 和治疗。需要评估未受影响个体的遗传风险的策略。可扩展和 可持续的方法来自动提取和分析家庭历史信息， 电子健康记录（EHR）可以识别适合癌症遗传服务的初级保健患者。 增加患者确定需要与实施研究配对，以比较 提供遗传服务，包括以病人为导向的模式。因为获得服务仍然是一个 少数种族和族裔群体以及农村地区的人面临的障碍， 跨人口分组的交付模式至关重要。这项研究将采用一种实施科学 框架来测试可复制的基于EHR的临床决策支持（CDS）基础设施，以：（i）自动 从犹他州大学和新泽西州的两个医疗保健系统的48个初级保健诊所中确定未受影响的患者 约克大学，谁有资格获得癌症遗传服务（目标1）;和（ii）比较两种模型的遗传 采用临床水平随机化的随机试验设计，为1，920名初级保健患者提供服务 (Aims 2和3）。我们假设CDS基础设施将识别出其他未接受过治疗的患者。 （目标1）和采用基因检测（目标2）以及坚持管理 建议（目标3）将在模型之间等效。为了实现目标1，我们将评估 CDS方法识别以前没有被转诊的患者，以及这是否因 种族/民族和农村。为了解决目标2，我们将比较：一个以患者为导向的模型，其中， CDS基础设施确定为符合测试标准的患者将被告知其癌症风险， 与教育资源，并提供了选择基因检测通过病人门户网站， 增强的标准护理模式，当标准 满足和标准的照顾遗传咨询的可用性。我们将比较基因检测的吸收情况， 模式以及这是否因种族/民族和农村而异。在目标3中，我们将比较两者的效果 在结果返回后12个月内，就遵守建议的情况建立交付模式， 种族/民族和农村的影响。创新功能包括实施基于人群的CDS 评估EHR中可用的家族史信息;比较患者导向和 提高护理提供模式的标准;并注重种族/族裔和农村的影响。这种高度 有影响力的转化研究建立在我们在癌症遗传学，临床信息学， 人口科学，并解决直接临床意义的问题，包括增加遗传 在适当的患者中进行癌症基因检测，并改善服务不足群体的获得机会。

PROJECT SUMMARY Identifying individuals with inherited cancer susceptibility is critical for targeted cancer prevention, screening, and treatment. Strategies to assess the genetic risk of unaffected individuals are needed. Scalable and sustainable methods to automatically extract and analyze family history information routinely captured in the electronic health record (EHR) can identify primary care patients appropriate for cancer genetic services. Increased patient ascertainment needs to be paired with implementation studies to compare models of delivering genetic services, including patient-directed models. Because access to services continues to be a barrier for those from minority racial and ethnic groups and rural areas, examining responses to different delivery models across population subgroups is essential. This study will employ an implementation science framework to test a replicable EHR-based clinical decision support (CDS) infrastructure to: (i) automatically identify unaffected patients from 48 primary care clinics in two healthcare systems, University of Utah and New York University, who qualify for cancer genetic services (Aim 1); and (ii) compare two models of genetic services delivery for 1,920 primary care patients using a randomized trial design with clinic-level randomization (Aims 2 and 3). We hypothesize that the CDS infrastructure will identify additional patients who have not been previously referred (Aim 1) and that uptake of genetic testing (Aim 2) and adherence to management recommendations (Aim 3) will be equivalent between the models. To address Aim 1, we will evaluate whether the CDS approach identifies patients who have not previously been referred, and whether this varies by race/ethnicity and rurality. To address Aim 2, we will compare: a patient-directed model in which those identified by the CDS infrastructure as meeting testing criteria will be informed of their cancer risks, provided with educational resources, and offered the option to select genetic testing through a patient portal to an enhanced standard of care model in which providers and patients are notified through CDS when criteria are met and of the availability of standard of care genetic counseling. We will compare uptake of genetic testing by model and whether this differs by race/ethnicity and rurality. In Aim 3, we will compare the effects of the two delivery models on adherence to recommendations 12 months after return of results, examining differences in effects by race/ethnicity and rurality. Innovative features include implementation of population-based CDS assessment of family history information available in the EHR; comparison of outcomes of patient-directed and enhanced standard of care delivery models; and focus on impact of race/ethnicity and rurality. This highly impactful translational research builds on our unique strengths in cancer genetics, clinical informatics, and population sciences, and addresses issues of immediate clinical significance, including increasing hereditary cancer genetic testing in appropriate patients and improving access for underserved groups.