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Summaries for Patients are a service provided by Annals to help patients better understand the complicated and often mystifying language of modern medicine.
SUMMARIES FOR PATIENTS
Cost-Effectiveness of Screening for Microsatellite Instability To Detect Hereditary Nonpolyposis Colorectal Cancer
16 October 2001 | Volume 135 Issue 8 Part 1 | Page S48
Summaries for Patients are presented for informational purposes only. These summaries are not a substitute for advice from your own medical provider. If you have questions about this material, or need medical advice about your own health or situation, please contact your physician. The summaries may be reproduced for not-for-profit educational purposes only. Any other uses must be approved by the American College of Physicians-American Society of Internal Medicine.
The summary below is from the full report titled "Cost-Effectiveness of Microsatellite Instability Screening as a Method for Detecting Hereditary Nonpolyposis Colorectal Cancer." It is in the 16 October 2001 issue of Annals of Internal Medicine (volume 135, pages 577-588). The authors are SD Ramsey, L Clarke, R Etzioni, M Higashi, K Berry, and N Urban.
What is the problem and what is known about it so far?
Colorectal cancer is cancer of the colon (large intestine) or rectum. Some colorectal cancer is caused by an inherited cancer syndrome called hereditary nonpolyposis colorectal cancer (HNPCC). People in families with HNPCC have a higher than usual risk for colorectal and some other cancers. Genetic testing to detect a predisposition for hereditary colorectal cancer is now possible, but testing for the gene abnormalities (mutations) associated with HNPCC is too expensive to be done on all patients with colorectal cancer. Consequently, the National Cancer Institute (NCI) has published guidelines for looking for HNPCC in patients with new diagnoses of colorectal cancer. The guidelines advise testing only patients who meet clinical criteria that suggest a high risk for HNPCC (for example, one or more first-degree relatives with colorectal cancer or one of the other HNPCC-associated cancers, or young age at diagnosis) and whose tumors also show an abnormality in the DNA known as microsatellite instability. Most olorectal tumors in HNPCC (85% to 90%) have microsatellite instability. However, many patients who have tumors that show microsatellite instability do not have HNPCC. The guidelines recommend doing further genetic testing for HNPCC in patients who meet the clinical criteria and also have microsatellite instability. The reason to look for HNPCC is to identify families that need close screening. The cost-effectiveness of this strategy is not known.
Why did the researchers do this particular study?
To calculate the cost-effectiveness of the NCI strategy for screening for HNPCC compared with standard care (not screening for HNPCC).
Who was studied?
The researchers did not study actual patients. Instead, they used computers to simulate what might happen to a group of "virtual" patients with new diagnoses of colorectal cancer.
How was the study done?
The researchers set up a computer model to simulate what would happen to patients with colorectal cancer and their siblings and children if screening for HNPCC was or was not done. They fed information from a variety of sources about the costs, benefits, and risks of screening into the computer model. They then calculated the cost per year of life saved due to early detection of HNPCC by the screening tests.
What did the researchers find?
When only the costs and benefits related to the patients with cancer were considered, screening for HNPCC cost $42 210 per year of life gained. When the costs and benefits that apply to the patients' siblings and children were also considered, the cost dropped to only $7557 per year of life gained. These cost-effectiveness estimates are within the range that U.S. society generally considers acceptable.
What were the limitations of the study?
Errors in the assumptions that went into the model could influence the results.
What are the implications of the study?
Looking for HNPCC in patients with new diagnoses of colorectal cancer seems to be an effective use of health care resources, especially if the benefits that relate to patients' siblings and children are considered.
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 E Domingo, P Laiho, M Ollikainen, M Pinto, L Wang, A J French, J Westra, T Frebourg, E Espin, M Armengol, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing J. Med. Genet., September 1, 2004; 41(9): 664 - 668. [Abstract] [Full Text] [PDF]
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