04 Sep Universal BRCA Screening Not Cost-Effective Until Low-Cost Reliable Genetic Testing Available
Medical Research: What is the background for this study? What are the main findings?
Dr. Long: The study was motivated by my own diagnosis of triple-negative breast cancer last year, at the age of 33. I also learned that I carried a BRCA1 mutation, despite no family history. As a patient, I would have benefitted tremendously from a universal BRCA screening program, but as a health services researcher, I had to ask if indiscriminate screening of all women in the U.S.—where only 1 in 400 carry a mutation—is a good use of resources.
Using a previously published decision analytic model, we calculated the cost-effectiveness of universal BRCA screening. We find that compared to screening based on family history, it is not cost-effective, assuming a test price of $2,000 to $4,000. However, as the price of genetic testing continues to fall, as indicated by the $249 test now offered by Color Genomics, universal BRCA screening becomes much more affordable. Additionally, population screening of Ashkenazi Jewish women—among whom 1 in 50 carry a BRCA mutation—is very cost-effective, because the chances of finding a carrier are much higher.
Medical Research: What should clinicians and patients take away from your report?
Dr. Long: Although a very small percentage of women may benefit from universal BRCA screening, until low-cost, reliable tests are widely available, health care resources may be better spent on other diagnostic tools such as more frequent mammograms or MRIs. It’s also important to emphasize that a negative BRCA test does not imply that a woman is not at risk for breast cancer; she should still undergo regular screenings and mammograms. Remember, 90-95% of breast cancers are not associated with a BRCA mutation.
Medical Research: What recommendations do you have for future research as a result of this study?
Dr. Long: We should examine how accurate the newer genetic tests are at detecting mutations, especially surrounding results of “variants of uncertain significance,” which is a genetic mutation with an indeterminate cancer risk. How do patients and physicians respond to such results?
As personalized medicine becomes increasingly utilized, more patients will seek genetic testing for susceptibility to cancer and other diseases. Future research should examine how patients respond to such information, especially regarding more rare mutations, where there is a paucity of data on long-term outcomes.
Elisa F. Long, PhD; Patricia A. Ganz, MD. Cost-effectiveness of Universal BRCA1/2 Screening: Evidence-Based Decision Making.JAMA Oncology, September 2015 DOI: 1001/jamaoncol.2015.2340
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Dr. Elisa Long PhD (2015). Universal BRCA Screening Not Cost-Effective Until Low-Cost Reliable Genetic Testing Available