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Effectiveness of Genetic Testing as Preventive Care in Breast Cancer Cases

Student 1

University of Maryland Global Campus

WRTG 391: Advanced Research Writing

Professor Olubunmi Oguntolu

September 15, 2020

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

The authors aim to personalize treatment plans to effectively help breast cancer patients based on the treatment results from ovarian cancer patients. They propose that performing an oophorectomy can result in decreased risk of cancer as results have shown in ovarian cancer cases. This type of treatment option is usually only recommended for women at an increased risk of ovarian cancer; however, numerous studies have proposed that it be used to help reduce the risk of breast cancer in the general population and in those specifically with mutations in BCRA1/2. A limitation of this study is that there doesn’t seem to be significant proof that this process would work, only that it could work. It also doesn’t specify an age group that this would be better proposed for. This article was included to provide a diverse option for those who are predisposed to cancer. It seems to have a decent prospect of information in regards to possible treatments for those at an increased risk of breast cancer; however, it possibly won’t have much effect on the part of how effective genetic testing is on those at high risk.

Evans, O., Gaba, F., & Manchanda, R. (2020). Population-based genetic testing for Women’s cancer prevention. Best Practice & Research Clinical Obstetrics & Gynaecology, 65, 139–153. https://doi.org/10.1016/j.bpobgyn.2020.02.007

The study conducted by the authors aimed to identify genes that are known to carry cancer mutations. They propose that by targeting these genes, screening and preventive care become much more effective in reducing the risk of cancer. This study determined that, given the current treatment standards, there have been many missed opportunities that would have been identified through genetic testing. Due to the current requirements to be considered for genetic testing, it is possible that up to 50% of CSG carriers are missed deeming the current clinical process ineffective. The authors aim to push the concept of genetic testing for the population, instead of just those who qualify. A limitation of this study was that it was conducted on the Ashkenazi-Jewish population. While that can still be helpful, it isn’t all encompassing to help determine if it could be effectual in the general population. This article and the study it encompassed seems to be a solid source of information as it hits most points needed with the only limitation being the population tested.

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

This study aimed to determine if finding cost-effective means for genetic testing can help those without a family history of breast cancer. Countless studies referred to in this article all had similar results; genetic testing is a cost-effective strategy regardless of the genetic possibility of a BRCA. It has been a cost issue in the past, as most insurance companies won’t cover the cost for genetic testing if there is no significant (family history) need for it. Genetic testing should be a recommendation for all women, not just those with a family history. A limitation of this article and study is that it only focuses on the cost effectiveness, not the test effectiveness in genetics. This has some great information into the “behind the scenes” of cost analysis. Seeing a prospective cost analysis unfortunately puts the reality of wide-spread genetic testing lower on the totem pole while also helping to urge it forward. This would be a good transition into another aspect of genetic testing and what goes into it.

Li, Y., Arellano, A. R., Bare, L. A., Bender, R. A., Strom, C. M., & Devlin, J. J. (2017). A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer. Value in Health: The Journal of the International Society for Pharmacoeconomics and Outcomes Research, 20(4), 547–555. https://doi.org/10.1016/j.jval.2017.01.006

The authors behind this article question the possibility and effectiveness of a multi-gene test. Utilizing a method that tests several types of genes instead of the standard few that genetic testing currently test, it could affect life expectancy and be cost effective. This suggested method would test seven genes that are commonly associated with breast cancer instead of the few common genes that are normally tested. By testing a wider margin, this increases the chance of detecting any cancer cells or gene mutations that could lead to cancer. The study determined that through this kind of testing, it would be a cost-effective means of preventive care and could increase life expectancy of those tested. A limitation of this study is that it tested 40 and 50-year-old women and focused on the life expectancy effectiveness of a seven-gene test. This could provide sufficient information into the research of effectiveness of genetic testing for hereditary breast cancer patients even though it focused on cost effectiveness and a specific age group.

Manchanda, R., Sun, L., Patel, S., Evans, O., Wilschut, J., De Freitas Lopes, A. C., Gaba, F., Brentnall, A., Duffy, S., Cui, B., Coelho De Soarez, P., Husain, Z., Hopper, J., Sadique, Z., Mukhopadhyay, A., Yang, L., Berkhof, J., & Legood, R. (2020). Economic evaluation of population-based BRCA1/BRCA2 mutation testing across multiple countries and health systems. Cancers, 12(7), 1929. https://doi.org/10.3390/cancers12071929

The authors of this study and article focused on finding a cost-effective BRCA testing for women around the world, not just those who have a family history. This study found that this population-based BRCA genetic testing is overall cost effective and could prevent thousands of ovarian and breast cancer cases compared to the current clinical methods. A limitation with this article is that it focuses on the cost of the testing and very little on the effectiveness and importance of genetic testing in general. It tested populations around the world, revealed an estimated cost savings, and included to what degree this cost-effectiveness would be. Further research would need to be conducted to include the significance of genetic testing in preventive care, not just the cost effectiveness. It is understood that cost effective testing measures will help push this further into being a normal test is conducted at the doctor’s office, but knowing the significance of the testing itself can really help current patients and hopefully help those who are at higher risk of developing ovarian or breast cancer.