Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting

描述（由申请人提供）：遗传性非息肉病性结直肠癌（HNPCC）[也称为Lynch综合征]的筛查测试是少数几种可用的经验证的基因测试之一，已被推荐为可以挽救生命的循证实践。然而，超过一半的符合公认的筛查标准的患者没有接受筛查。这对患者和医疗保健提供系统来说是一个严重的失败，因为HNPCC突变携带者患结直肠癌和其他HNPCC相关癌症的风险非常高，而且临床策略可以预防未来的癌症，或为受HNPCC影响的个体及其亲属提供早期检测。HNPCC测试也是成本效益相比，治疗个人与结直肠癌（CRC）的诊断。为了解决实践中的这一不足，我们提出的研究调动了一个综合健康提供系统的资源，该系统具有广泛的电子临床数据，以实施和评估一种新的策略，以最大限度地筛查CRC患者的HPNCC。基因组应用在实践和预防中的评估（EGAPP）工作组建议对所有新诊断的CRC患者进行HPNCC筛查，但无法推荐实现这一目标的最佳策略。因此，使用由我们的合作研究者之一开发的实用稳健实施和可持续性模型（PRISM）来指导分析，我们将：目标#1：进行随机对照试验，以确定与目前的医生转诊和自我转诊实践相比，基于通用实验室检测的HNPCC筛查计划的有效性。目标#2：阐明患者、提供者和系统因素对成功实施的重要性。目标3：创建、完善和传播HNPCC筛查的实施指南，包括在未来七个不同的传播实施地点对关键工作人员进行线人访谈。本研究旨在评估一种新的HNPCC筛查计划的实施情况，并评估所有利益相关者、促进者和计划实施和成功的障碍。这项研究的结果将有助于实现2020年健康人群降低CRC死亡率的目标。它将增加越来越多的文献，在越来越重要的领域，将研究成果转化为现实世界的实践，一个主题的NIH路线图。许多发现将在其他临床领域有用，并将广泛适用于其他旨在改善癌症基因检测的医疗保健组织。

DESCRIPTION (provided by applicant): Screening tests for Hereditary Non-Polyposis Colorectal Cancer (HNPCC) [also called Lynch Syndrome], are among the few available validated genetic tests that have been recommended as an evidence-based practice that can save lives. However, more than half of patients who meet well-established and accepted screening criteria do not receive screening. This is a critical failure for patients and for the health-care delivery system because HNPCC mutation carriers are at exceptionally high risk for colorectal and other HNPCC-related cancers, and because clinical strategies can prevent future cancers, or provide early detection, for individuals affected with HNPCC and their relatives. HNPCC testing is also cost-effective compared to treating individuals with a diagnosis of colorectal cancer (CRC). To address this shortfall in practice, our proposed research mobilizes the resources of an integrated health- delivery system with extensive electronic clinical data to implement and evaluate a new strategy to maximize screening of CRC patients for HPNCC. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) working group recommended that all newly diagnosed CRC patients be screened for HPNCC, but was not able to recommend a best-strategy to accomplish this aim. Therefore, using the Practical Robust Implementation and Sustainability Model (PRISM), developed by one of our co-investigators, to guide the analyses, we will: Aim #1: Conduct a randomized controlled trial to determine the effectiveness of a universal laboratory test- based HNPCC screening program compared to the current practice of physician referral and self-referral. Aim #2: Elucidate patient, provider, and system factors important to success of implementation. Aim #3: Create, refine, and disseminate an implementation guide for HNPCC screening including informant interviews of key staff at seven future diverse dissemination-implementation sites. This study aims to evaluate implementation of a novel HNPCC screening program and assess, for all stakeholders, facilitators and barriers to program implementation and success. Results from this study will help achieve the Healthy People 2020 objective of reducing CRC mortality. It will add to the growing literature in the increasingly important area of translating research findings into real-world practice, a subject of the NIH Roadmap. Many of the findings will be useful in other clinical areas and will be broadly applicable to other health care organizations aiming to improve access to genetic tests for cancers.