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Genomic Tests for Ovarian Cancer Detection and Management
Evidence Reports/Technology Assessments, No. 145
Investigators: Evan R Myers, MD, MPH, Principal Investigator, Laura J Havrilesky, MD, Shalini L Kulasingam, MPH, PhD, Gillian D Sanders, PhD, Kathryn E Cline, MHS, Project Manager, Rebecca N Gray, DPhil, Editor, Andrew Berchuck, MD, and Douglas C McCrory, MD, MHS.
Structured Abstract
Objective:
To assess the evidence that the use of genomic tests for ovarian cancer screening, diagnosis, and treatment leads to improved outcomes.
Data Sources:
MEDLINE® and reference lists of recent reviews.
Review Methods:
We evaluated tests for: (a) single gene products; (b) genetic variations affecting risk of ovarian cancer; (c) gene expression; and (d) proteomics. For tests covered in recent evidence reports (cancer antigen 125 [CA-125] and breast cancer genes 1 and 2 [BRCA1/2]), we added studies published subsequent to the reports. We sought evidence on: (a) the analytic performance of tests in clinical laboratories; (b) the sensitivity and specificity of tests in different patient populations; (c) the clinical impact of testing in asymptomatic women, women with suspected ovarian cancer, and women with diagnosed ovarian cancer; (d) the harms of genomic testing; and (e) the impact of direct-to-consumer and direct-to-physician advertising on appropriate use of tests. We also constructed a computer simulation model to test the impact of different assumptions about ovarian cancer natural history on the relative effectiveness of different strategies.
Results:
There are reasonable data on the clinical laboratory performance of most radioimmunoassays, but the majority of the data on other genomic tests comes from research laboratories. Genomic test sensitivity/specificity estimates are limited by small sample sizes, spectrum bias, and unrealistically large prevalences of ovarian cancer; in particular, estimates of positive predictive values derived from most of the studies are substantially higher than would be expected in most screening or diagnostic settings. We found no evidence relevant to the question of the impact of genomic tests on health outcomes in asymptomatic women. Although there is a relatively large literature on the association of test results and various clinical outcomes, the clinical utility of changing management based on these results has not been evaluated. We found no evidence that genomic tests for ovarian cancer have unique harms beyond those common to other tests for genetic susceptibility or other tests used in screening, diagnosis, and management of ovarian cancer. Studies of a direct-to-consumer campaign for BRCA1/2 testing suggest increased utilization, but the effect on “appropriateness” was unclear. Model simulations suggest that annual screening, even with a highly sensitive test, will not reduce ovarian cancer mortality by more than 50 percent; frequent screening has a very low positive predictive value, even with a highly specific test.
Conclusions:
Although research remains promising, adaptation of genomic tests into clinical practice must await appropriately designed and powered studies in relevant clinical settings.
Contents
- Preface
- Acknowledgments
- Executive Summary
- 1. Introduction
- 2. Methods
- 3. Results
- Question 1: Analytic Validity of Testing
- Question 2: Sensitivity and Specificity of Tests
- Question 3: Impact on Clinical Management of Asymptomatic Patients
- Question 4: Impact on Clinical Management of Diagnosed Patients
- Question 5: Harms of Using Genomic Tests
- Question 6: Direct-to-Consumer and Direct-to-Physician Marketing
- Modeling Results
- 4. Discussion
- 5. Future Research
- 6. Conclusions
- List of Acronyms/Abbreviations
- Appendixes
- References
- List of Included Studies (alphabetical)
Prepared for: Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services.1 Contract No. 290-02-0025. Prepared by: Duke University Evidence-based Practice Center, Durham, NC.
Suggested citation:
Myers ER, Havrilesky LJ, Kulasingam SL, Sanders GD, Cline KE, Gray RN, Berchuck A, McCrory DC. Genomic Tests for Ovarian Cancer Detection and Management. Evidence Report/Technology Assessment No. 145. (Prepared by the Duke University Evidence-based Practice Center under Contract No. 290-02-0025.) AHRQ Publication No. 07-E001. Rockville, MD: Agency for Healthcare Research and Quality. October 2006.
This report is based on research conducted by the Duke University Evidence-based Practice Center (EPC) under contract to the Agency for Healthcare Research and Quality (AHRQ), Rockville, MD (Contract No. 290-02-0025). The findings and conclusions in this document are those of the author(s), who are responsible for its contents, and do not necessarily represent the views of AHRQ. No statement in this report should be construed as an official position of AHRQ or of the U.S. Department of Health and Human Services.
The information in this report is intended to help clinicians, employers, policymakers, and others make informed decisions about the provision of health care services. This report is intended as a reference and not as a substitute for clinical judgment.
This report may be used, in whole or in part, as the basis for development of clinical practice guidelines and other quality enhancement tools, or as a basis for reimbursement and coverage policies. AHRQ or U.S. Department of Health and Human Services endorsement of such derivative products may not be stated or implied.
None of the investigators has any affiliations or financial involvement that conflicts with the material presented in this report.
- 1
540 Gaither Road, Rockville, MD 20850. www
.ahrq.gov
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- Genomic Tests for Ovarian Cancer Detection and ManagementGenomic Tests for Ovarian Cancer Detection and Management
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