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EFFECTIVENESS OF GENETIC TESTING FOR BRCA CASES

The Effectiveness of Genetic Testing for Breast Cancer Cases

Student 1

University of Maryland Global Campus

WRTG 391: Advanced Research Writing

Professor Olubunmi Oguntolu

October 6, 2020

Genetic testing for breast cancer has been a well-researched topic in the past decade. The current standard for genetic testing is argued to be ineffective in its current state. The lack of knowledge and the ineffectual help from insurance companies has led genetic testing to be a drastically underused asset in terms of cancer research and testing. Researchers all seem to have the same theory contrary to current standards: population-based genetic testing and preventive care are cost-effective and the way forward with cancer research and testing. Several authors have attempted to determine the effectiveness, spread knowledge, find possible alternative methods, and associated costs of genetic testing. They hope that by creating a population-based test with its subsequent preventive care, the number of cancer patients will decrease and ease the cost burden. The concept of a multigene test, preventive surgery, informative tools, and the threats of perceived risk are all factors that contribute to the argument of population-based genetic testing. Though cancer research has a long way to go, these authors believe their methods can shorten that time frame and help thousands of people.

Genetic testing is notably an effective means of preventive care in most cancer cases, more specifically, breast cancer. The current standard for testing is those with an increased familial risk are those who qualify for testing. The problem with that is it limits the testing group and most insurance companies won’t cover genetic testing if they don’t qualify under the current standard. They suggest that the current policy needs to be amended so that genetic testing for all women with breast cancer is the recommended approach (Schwartz, 2019). In the study conducted by Turbitt, et al. (2019), they argue that perceived risk can affect a patient’s health-related behaviors. A person can perceive that they are at an increased risk and decide to go to a genetic counselor and, based on the results of that, they would ideally follow on with genetic testing. The risk with this is that most people perceive that they are at a much lower risk than they are. It is likely, due to this thought process, that those who think their risk is low enough aren’t going to pursue preventive means in cancer reduction. For example, a person who doesn’t smoke is likely to think they have a low or nonexistent risk of getting lung cancer. Grimmett et al (2019) has found a means to help those who struggle with their perceived risk.

According to Grimmett, et al. (2019), there might be a lack of knowledge that keeps people from pursuing genetic testing and counseling. They developed an online tool, Breast Cancer Choices, to help those at risk of breast cancer decide if they should pursue genetic counseling/testing and any preventive care options available to them. There is no objective way of knowing how many people have had genetic testing with no family history, but Turbitt, et al. (2019) determined in this study that 136 of 12,631 (1.2%) women underwent genetic counseling for breast cancer risk. Of the same 12,631 women, only 86 (0.8%) women underwent genetic testing. Both of these results were mostly women with a higher level of education and had a higher objective relative risk. Overall, the study conducted by Turbitt, et al. (2019) found that a large number of the patients studied in the United States held dissonant breast cancer risk perceptions and had unrealistic optimism regarding their risks while Grimmett, et al. (2019) found there was a lack of knowledge that kept possible candidates from testing. Increasing knowledge can push genetic testing closer towards being population-based as most researchers agree is the future of genetic testing and cancer research.

These authors have attempted to guide patients by helping them understand their perceived cancer risk and gain the knowledge needed to make health decisions and influence preventive care. There have been several studies to encourage alternative methods to the current clinical standard and hopefully change the perceived risks. One such method is suggested by Schwartz (2019). He writes of a study conducted to test the functionality and cost-effectiveness of using a multi-gene test when conducting genetic testing. This method would be functional if used in an environment where genetic testing was not only pursued by those with a family history or those with perceived risks (Turbitt, et al., 2019) but conducted in a population-based manner. Schwartz (2019) states that the study found that if testing all patients, not just those at an increased risk or those who already have cancer, it could additionally identify and prevent over 5,000 breast cancer cases within the United States. This type of testing would create a greater margin of gene mutations for future genetic testing. This is a benefit of population-based testing as both Schwartz (2019) and Turbitt, et al. (2019) agree on.

Another alternative method is suggested by Schrauder, et al. (2017) and Evans, Howell, & Howell (2018). Their studies found that preventive surgery, once a gene mutation has been found or there is a high familial risk, can be cost-effective to the alternative cancer treatments. If these types of surgeries are conducted in a preventive measure when gene mutations are found but before cancer is detected, it can save upwards of $1 million (this study was conducted in Germany – so it is not known exactly how much this would save in the United States) according to Schrauder, et al. (2017). A suggested preventive surgery is an oophorectomy (the process of removing the ovaries). Evans, Howell, & Howell (2018) originally agreed that oophorectomy can be a preventive measure for those at risk, however, they have updated their study to show that recent results have shown that this might not be an effective means of decreasing risk for those predisposed to breast cancer. While the surgery can be effective in those at risk of ovarian cancer, it didn’t prove as effective for those at risk of breast cancer as a mastectomy is (Evans, Howell, & Howell, 2018). The updated study finds that pursuing chemo-preventive measures can be more effective in the long run and may reduce the need for a mastectomy.

Genetic testing is an effective manner of preventing cancer cases and personalizing cancer treatment in current cancer patients. Studies conducted by Schwartz (2019) and Kaldate, et al. (2014) question how cost-effective the methods are and who they are cost-effective for. This method (genetic testing) of preventive care can possibly prevent cancer cases in those patients who have cancer mutations and save the patient thousands in avoided cancer-related treatments (Schwartz, 2019). If genetic testing is more popular that drives the cost goes down per patient. The study that Schwartz (2019) writes of suggests that it is estimated to cost $65,661/QALY (quality-adjusted life year) for the patient compared to the $100,000/QALY that the current method does while Kaldate, et al. (2014) found that it is estimated to cost $36,800/QALY. The related costs saved for the hospital are possibly relegated to the patient in terms of preventive cancer and related cancer treatments. All of the authors argued that population-based testing is a cost-effective means forward with genetic testing. Given the current lifestyles and increase in cancer cases, performing population-based testing will likely help drive cancer research forward and ultimately avoid thousands of cases and possible related deaths while saving the patient valuable time and money.

Cancer is something no one wants to deal with in their lifetime. These authors are finding alternative and cost-effective methods to help transform the current clinical standard of genetic testing. Genetic testing has come far in the past decade and has changed many lives but there is so much more that it can do. These authors have all agreed that the theory of population-based genetic testing is the most effective way to transform genetic testing. By testing the general public instead of just those who have a higher risk, a wider margin is created from which future patients can be tested. The suggested surgeries that have been tested have not been proven worthwhile in breast cancer cases as of yet but they are still finding new ways to prevent cancer. Discovering cost-effective ways to prevent/treat/cure cancer is the way forward in genetic testing research. Cancer is enough of a burden and finding new ways to lessen the cost or risk is a valuable asset that the medical field, and these researchers, hold.

References

Evans, D. G., Howell, S. J., & Howell, A. (2018). Personalized prevention in high risk individuals: Managing hormones and beyond. Breast, 39, 139–147. https://doi.org/10.1016/j.breast.2018.03.009

Grimmett, C., Brooks, C., Recio-Saucedo, A., Armstrong, A., Cutress, R. I., Gareth Evans, D., Copson, E., Turner, L., Meiser, B., Wakefield, C. E., Eccles, D., & Foster, C. (2019). Development of Breast Cancer Choices: a decision support tool for young women with breast cancer deciding whether to have genetic testing for BRCA1/2 mutations. Supportive Care in Cancer, 27(1), 297–309. https://doi.org/10.1007/s00520-018-4307-x

Kaldate, R., Huston, A., McCoy, H., Cardeiro, D., & Noyes, K. (2014). Cost effectiveness analysis of genetic testing for breast and ovarian cancer susceptibility genes: BRCA1 and BRCA2. Breast Journal, 20(3), 325–326. https://doi.org/10.1111/tbj.12269

Schrauder, M. G., Brunel-Geuder, L., Häberle, L., Wunderle, M., Hoyer, J., Reis, A., Schulz-Wendtland, R., Beckmann, M. W., & Lux, M. P. (2017). Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer. The Breast, 32, 186–191. https://doi.org/10.1016/j.breast.2017.02.008

Schwartz, B. (2019). Cost-effectiveness of genetic testing in breast cancer patients? Contemporary OB/GYN, 64(11), 38. https://www.contemporaryobgyn.net/view/it-cost-effective-do-genetic-testing-all-women-breast-cancer

Turbitt, E., Roberts, M. C., Taber, J. M., Waters, E. A., McNeel, T. S., Biesecker, B. B., & Klein, W. M. P. (2019). Genetic counseling, genetic testing, and risk perceptions for breast and colorectal cancer: Results from the 2015 National Health Interview Survey. Preventive Medicine, 123, 12–19. https://doi.org/10.1016/j.ypmed.2019.02.027