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This report summarizes the work completed for the project Computer-based Clinical Decision Support (CDS) Tools for Gene-based Tests Used in Breast Cancer, funded by the Agency for Healthcare Research and Quality (AHRQ) under contract HHSA290-2005-0036-I (Task Order 8). For this project, AHRQ asked for the development and testing of two CDS tools for gene-based tests in breast cancer.
AHRQ envisioned one tool that could be used to screen for risk of BRCA mutations in primary care settings and assist in the implementation of the U.S. Preventive Services Task Force (USPSTF) recommendations regarding referrals for genetic counseling and evaluation for BRCA1 and BRCA2 genes.
The USPSTF recommended in 2005 that physicians refer women who have a family history consistent with hereditary breast and ovarian cancer syndrome (HBOC) for genetic counseling and possible testing. The recommendations are as follows:
The U.S. Preventive Services Task Force (USPSTF) recommends against routine referral for genetic counseling or routine breast cancer susceptibility gene (BRCA) testing for women whose family history is not associated with an increased risk for deleterious mutations in breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2).
Grade: D Recommendation.
The USPSTF recommends that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing.
Grade: B Recommendation.
The second tool was to support shared decisionmaking around the use of gene expression profiling (GEP) tests (such as Oncotype DX) used in oncology care for women newly diagnosed with breast cancer (these are recently developed tests with some uncertainty on their proper use). During the initial stages of the project, a large number of information gaps were identified, more so for the GEP tool. Hence, given the resources and timeline, AHRQ focused this project on the BRCA tool. The process for developing and testing the BRCA tool are detailed in the full report. A preliminary workplan can be found in Appendix A.1 of thereport.
Purpose of the BRCA Tool
HBOC is a familial form of breast and/or ovarian cancer that is inherited as an autosomal dominant condition. In over 90 percent of families who present with both breast and ovarian cancer and 40 percent of those who present with breast cancer alone, the syndrome is the result of a mutation in the BRCA1 or BRCA2 gene. Women who have a mutation in these genes have up to an 85 percent lifetime risk of breast cancer. The tumors of BRCA1 mutation carriers are more likely to be high-grade, estrogen-receptor negative and fatal than those of women without a family history of cancer and are less likely to be associated with survival. Genetic testing for HBOC has been available for several years, and studies have shown that prophylactic measures are effective.
To inform the design and development of the tool we named Cancer in the Family, our project team completed the following activities:
- conducted a literature review,
- obtained input and guidance from our technical expert panel (TEP) members,
- conducted a needs assessment with primary care providers, and
- conducted a feasibility assessment with IT professionals at primary care sites that would be involved in the study.
This report provides an overview of the results of these planning activities and also describes the approach that was used to develop the tool’s interface and software. The tool went through a variety of different types of testing, including
- cognitive testing of the educational content for the patient tool,
- internal review by RTI experts,
- usability testing with both patients and providers, and
- 508 compliance testing.
In addition, the tool was field tested with primary care providers and their patients at three primary care settings. Results of this preliminary evaluation are included in this report.
Organization of the Report
This report contains five chapters. Chapter 1, Background, describes the goals and objectives for the tool, findings from our literature review, recommendations from our TEP, results from our needs assessment with physicians, and results from our IT feasibility assessment. Chapter 2, Tool Development, describe the process we used to develop the patient and provider interfaces and provides screenshots of the final tool. In this chapter, results from our cognitive testing of the patient content are presented, as well as results from usability testing with both patients and providers. Chapter 3, Evaluation, provides an overview of our evaluation plan, which includes three types of evaluation: implementation evaluation, outcome evaluation, and a pilot test of evaluation methods and tools. Chapter 4 describes the My Family Health Portrait, the Surgeon General’s family history tool, and Chapter 5 summarizes the project and provides recommendations for future development and evaluation of the tool. In addition, appendixes provide our original workplan, the literature review, the list of TEP members and their recommendations, and reports on the results from formative research (e.g., the physician needs and IT feasibility assessments; cognitive testing, usability testing, and results from the accuracy testing we conducted using the BRCAPRO algorithm). We also provide detailed technical documentation of the tool. Finally, our appendices contain our evaluation protocol, surveys, and materials we used to train the evaluation site coordinators and providers who participated in the evaluation.