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As the cost of BRCA sequencing continues to fall, medical experts are considering the possibility of universal testing testing all women regardless of their breast and/or ovarian cancer history for BRCA mutations. In a recent JAMA Oncology article, researchers argue that the current cost of BRCA testing for all women in the United States is greater than the benefit gained in terms of cancers found and yearly life quality improved.
Whether screening all women for BRCA mutations is worth the cost of testing.
Breast cancers in women with BRCA mutations tend to be more aggressive and occur at a younger age than non-BRCA breast cancers. By age 70, women with a BRCA1 mutation have a 55-65 percent risk of developing breast cancer, while the risk for women with a BRCA2 mutation is 45 percent. However, high-risk women have many options for reducing their risk, including prophylactic bilateral mastectomy and/or oophorectomy. Women may also opt for screening measures that may catch breast cancer early. In a recent viewpoint, researchers wanted to determine whether screening all women for BRCA mutations would be worth the cost.
National guidelines currently recommend BRCA testing for women who have breast cancer at a young age, invasive ovarian cancer at any age, and/or a strong family history of cancer. BRCA testing is recommended in these cases because knowing that you have a BRCA mutation will change your screening, cancer risk management, and/or treatment options. Screening an entire population for a mutation has pros and cons, and population BRCA screening has not yet been implemented. If you do not have a family history of breast or ovarian cancer, and you want to get tested for a BRCA mutation, it is best to talk with your health care provider so that together, you can decide which course of action works best for you. While insurance companies may not provide much coverage for BRCA testing in the absence of a family history, companies such as Color Genomics offer $249 out-of-pocket testing that looks for mutations in the BRCA genes and 17 other genes that may increase breast and ovarian cancer risk.
Medical News Today
Dr. Mary-Claire King (the discoverer of the BRCA1 gene) has conducted research that suggests that more than half of all women with BRCA mutations do not have a family history of breast cancer. In 2014 she published an article calling for universal BRCA testing for all women in the U.S. who are older than age 30. In a recent JAMA Oncology article, Dr. Elisa F. Long and Dr. Patricia A. Ganz of University of California Los Angeles, looked at the cost of universal testing.
If the benefits of screening all women for BRCA mutations outweigh the costs.
This study did not directly observe a human population. The researchers used decision-analytic modeling, which is a technique used to estimate the potential costs and health benefits of population-based screening. Using this model, researchers estimated the cost-effectiveness of BRCA testing all women in the U.S. who are older than age 30, and the potential number of prevented cancers and life years saved. For their calculations, researchers used the estimate that in an average population, 1 in 400 women carry a BRCA mutation.
While models can and do provide helpful predictions, they are limited by the data used to build them. For their calculations, researchers used the best estimate available: that 1 in 400 women carry a BRCA mutation. Universal screening might reveal a higher or lower estimate, which would change the calculation. Additionally, the research models included costs of the Myriad and Ambry Genetics tests, which are higher than some other currently available options, such as the $249 Color Genomics test. Because researchers based their estimates on more expensive tests, their estimates reflect higher amounts. Also, they included only women in their calculations; they did not include the impact of testing men, who can also pass a BRCA mutation onto their daughters or sons.
This estimate also only looks at BRCA mutation screening, not screening for other mutations that increase breast cancer risk. Because of the increasing availability of panel testing, other genes that increase risk could be simultaneously screened, which would identify other carriers and increase the benefits of universal screening.
This analysis shows that population-based screening for BRCA mutations will become cost effective as the cost of testing drops. More research is needed to show that the risk of cancer in BRCA mutation carriers without a strong family history cancer can be the same as for those with a family history.
Long EF and Ganz PA. “Cost-effectiveness of Universal BRCA1/2 Screening Evidence-Based Decision Making.” JAMA Oncology, first published online on September 3, 2015.
King MC, Levy-Lahad E, and Lahad A. “Population-Based Screening for BRCA1 and BRCA2,” JAMA (2014). Vol. 312, No. 11, pp. 1091-92.