Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting
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, the investigators 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
Aim #3: Create, refine, and disseminate an implementation guide for HNPCC screening
including informant interviews of key staff at seven future diverse
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.
Allocation: Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Screening
The primary outcomes to assess implementation effectiveness are: number of patients who receive HNPCC screening test results; number of physicians who receive their patients HPNCC screening test results; completion of the educational session at three months of follow-up; and number of patients with MSI-H (microsatellite instability-high) test results who are contacted by medical genetics.
All patients will be followed up to 5 years. Most active participation and chart review will take place within one year of surgery.
Katrina AB Goddard, PhD
United States: Institutional Review Board
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