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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 13, 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 (through traditional or alternative methods) 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 with the hope that creating a population-based test and subsequent preventive care will decrease the number of cancer patients 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.

The misconceptions and lack of knowledge of genetic testing

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 don’t cover genetic testing if someone doesn’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, 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. Due to this thought process, it is likely 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. 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 to help guide those in question to an informed decision regarding their healthcare.

There is no objective way to quantitate how many people have had genetic testing conducted 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. This supports the results that Grimmett, et al. (2019) found regarding the lack of knowledge affecting genetic counseling and testing results. 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.

In an attempt to alter perceived risk, help increase knowledge, and improve the chances of follow-on preventive care, Grimmett, et al. (2019) developed, tested, and implemented a tool called Breast Cancer Choices. This is a free online tool that will help those at risk of breast cancer decide if they should pursue genetic counseling/testing and educate them on any preventive care options available to them. Increasing knowledge can push genetic testing closer towards being population-based as most researchers agree, is the future of genetic testing and cancer research. The lack of knowledge also extends to the physicians that are on the front line of helping patients determine if they should pursue genetic counseling due to family history. If physicians working in public health, or general physicians who are non-genetic experts, are to take a role in the development and delivery of genetic services and in identifying family members at risk, a lack of genetic knowledge relevant for everyday care is a major problem (Cornel & van El, 2017). Cornel & van El (2017) determined that if the public at large is to profit from recent developments in genetics, any physician or health worker should be able to answer questions about genetics relevant for daily practice. Through the use of various training and teaching methods, including Breast Cancer Choices, the knowledge is hopefully passed along to the providers and patients and ultimately helps generalize genetic counseling and testing. Perceived cancer risk along with various levels of knowledge drive health decisions and these authors aim to drive future patients in the right direction.

Alternative methods to the standard cancer-related treatment plans

The perceived risk and lack of knowledge influence preventive care. There have been several studies to encourage alternative methods of 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 alone. This type of testing would create a greater margin of gene mutations for future genetic testing and is ultimately a benefit of population-based testing that 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). One form of 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) even though there are similar gene mutations between the two cancers. 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.

While surgery can be a recommended route, it might not always be the route that the patient wishes to take for their journey, given the risks. In reaction to this, there has been an increase (a recently studied increase due to the lack of tracking in the past, though it is assumed that this has been used since the discovery of cancer) of patients that utilize CAM (complementary and alternative medicine). This is a practice, either provider-directed or self-directed, of using alternative methods to cope with and possibly help with the cancer treatments. This is a somewhat controversial subject as the theory behind hypnosis, herbs, prayer, and spiritual therapy are unknown in their depths. There is no way of quantifying how much any of these alternative methods can or would work. In a study conducted by Lo-Fo-Wong, et al. (2012) the use of self-directed CAM was more often used to influence the course of cancer than the provider-directed CAM. Both methods were frequently used to influence the well-being of the patients. (Lo-Fo-Wong, et al., 2012). Their study did not include health results after the use of CAM only that it was used heavily among breast cancer patients. It was advised that patients keep open lines of communication with their providers while using these alternative methods. These alternative methods, including surgery, are all different ways of coping with or attempting to prevent cancer. Each patient is going to have a different mind-set and it will be up to the provider to determine what method is best to recommend to them.

How cost-effective can this be?

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 is they are cost-effective for. This method 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 down per patient through their projected cancer treatment and recession. 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.

According to Asphaug & Melberg (2019), in a study conducted in Norway among cancer patients that tested the probability and effectiveness of a 7-gene test, it was determined that compared to BRCA-only testing, the 7-gene panel can be a cost-effective alternative for testing early-onset breast cancer patients and their relatives in Norway. This study was conducted among. They also found that “routine testing for HBOC (Hereditary Breast and Ovarian Cancer) in early-onset breast cancer patients and their relatives with a multigene panel tests for mutations in BRCA1, BRCA2, CDH1, PALB2, STK11, and TP53 can be a cost-effective alternative to BRCA-only testing” (2019). Throughout all of the studies and articles researched, it appeared that there was a common theme. All of the authors argued that population-based testing and alternative care/methods are a cost-effective means forward with genetic testing. Given the current lifestyles and increase in cancer cases, performing population-based testing will 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 an ominous word that invades the lives of those diagnosed and those around them. These authors are finding alternative and cost-effective methods to help transform the current clinical standard of genetic testing and cancer treatments. Genetic testing has come far in the past decade and has changed many lives but there is so much more that it can do. Using it to detect cancer mutations for those at an increased risk helps, however, these authors find that population-based testing for the general public is the most effective way to make this a reality. By testing the general public instead of just those who have a higher risk, this creates a much wider margin 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. Finding cost-effective ways to prevent/treat/cure cancer is the way forward in research. Cancer is enough of a burden, so finding ways to lessen the cost or risk is a valuable asset that the medical field and these researchers hold the key to unlocking.

References

Cornel, M. C. and van El, C. G. (2017). Barriers and facilitating factors for implementation of genetic services: A public health perspective. Public Health, 5, 195. https://doi.org/10.3389/fpubh.2017.00195

Evans, C., Hamilton, R. J., Tercyak, K. P., Peshkin, B. N., Rabemananjara, K., Isaacs, C., O’Neill, S. C. (2016). Understanding the needs of young women regarding breast cancer risk assessment and genetic testing: Convergence and divergence among patient-counselor perceptions and the promise of peer support. Healthcare, 4(3), 35. https://doi.org/10.3390/healthcare4030035

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

Asphaug, A. & Melberg, H. O. (2019). The cost-effectiveness of multigene panel testing for hereditary breast and ovarian cancer in Norway. MDM Policy & Practice, 4. https://doi.org/10.1177/2381468318821103

Lo-Fo-Wong, D. N. N., Ranchor, A. V., de Haes, H. C. J. M., Sprangers, M. A. G., & Henselmans, I. (2012). Complementary and alternative medicine use of women with breast cancer: Self-help CAM attracts other women than guided CAM therapies. Patient Education and Counseling, 89(3), 529–536. https://doi.org/10.1016/j.pec.2012.02.019

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