When it comes to treating particular illnesses, such as cancer, treatment methods and medications can have quite detrimental side effects. For instance, Cisplatin which is used for chemotherapy in testicular cancer patients can lead to deafness or significantly impaired hearing. In the platinum study, however, it was found that there is a relationship between cisplatin dosage, the rs62283056 genotype, and hearing loss. This is a significant finding as if patients go through genetic screening prior to cisplatin treatment, it is possible for them to avoid the hearing loss. Heather Wheeler’s research on mapping traits, which was used in the platinum study as well as to track genes associated with type one diabetes, is interesting as it has the potential to predict side effects and to predict the susceptibility to particular diseases.
One application where predicting gene expression was used in relation to cancer treatment was done by Xiaowen Feng, Edwin Wang, and Qinghua Cui in their research article, “Gene Expression-Based Predictive Markers for Paclitaxel Treatment in ER+ and ER− Breast Cancer”. The goal of Feng et al. was to predict patient responsiveness to breast cancer treatment through genetic screening. They found six sets of gene signatures which can be used to determine patients that would not respond to treatment with Paclitaxel, a major medication used to treat breast and ovarian cancer. With the identification of these 6 gene signatures, they now have the ability to predict if a patient will be unresponsive to treatment with a 94% precision and 93% recall rate.
While Feng et al. did not use the same method as Wheeler did to identify these traits, the general benefits remains the same when it comes to predicting gene expression. These studies that help predict treatment outcomes, such as bad side effects or even unresponsiveness, “could save enormous health care resources and potentially make it possible to reallocate the individual to better suited medication programs earlier” (Feng et al.). The use of genetic testing prior to treatment can help in reducing the amount of life changing side effects that patients may experience due to a medication as well as preventing futile treatment.
Another application that comes from analyzing gene expression is the ability to identify a potential predisposition to certain diseases such as type one diabetes and Parkinson’s disease. For instance, Heather Wheeler’s use of genome-wide association studies (GWAS) identified 29 genes that are associated with type one diabetes. There was another lab that utilized similar methods to Wheeler, where GWAS data and SNPs were analyzed in order to identify loci associated with Parkinson’s risk. In the research article, “Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease”, Satake et al. were able to identify two more loci that show susceptibility to Parkinson’s.
While knowing this information may not allow a person to avoid the disease, it is beneficial for them to be aware of something that may potentially happen to their body. For instance, if someone is genetically predisposed to heart disease then they can adjust their lifestyle accordingly. This also allows a person to properly educate themselves on diseases that they have a chance of being diagnosed with and what symptoms they should be weary of. A major one is for women to know if they are genetically predisposed to breast cancer, and with this knowledge they are able to go get checkups early to potentially catch cancer at an earlier stage. Or in some extreme cases, women who know they have a high chance of getting breast cancer will get a double mastectomy in order to prevent the diagnosis.
The ability to map traits and analyze gene expression has many applications including identifying predisposition to a disease as well as identifying potential side effects to a treatment option. In identifying potential reactions to medication through prior genetic testing, it would be possible to prevent someone from experiencing a life changing side effect as seen with cisplatin caused deafness. Along with that, identifying a genetic predisposition to a disease it will be possible for people to educate themselves and potentially alter their lifestyle to lower the chances of getting diagnosed with diseases such as breast cancer.
Feng, X., Wang, E., & Cui, Q. (2019, February 13). Gene Expression-Based Predictive
Markers for Paclitaxel Treatment in ER and ER− Breast Cancer.
Retrieved March 27, 2019, from
Gamazon, E. R., Wheeler, H. E., Shah, K. P., Mozaffari, S. V., Aquino-Michaels,
K., Carroll, R. J., . . . Im, H. K. (2015, August 10). A gene-based association
method for mapping traits using reference transcriptome data.
Retrieved March 27, 2019, from https://www.nature.com/articles/ng.3367
Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., . . . Toda, T.
(2009, November 15). Genome-wide association study identifies common variants
at four loci as genetic risk factors for Parkinson's disease. Retrieved March 27, 2019, from https://www.nature.com/articles/ng.485
Wheeler, H. E., Gamazon, E. R., Frisina, R. D., Perez-Cervantes, C., El Charif, O.,
Mapes, B., . . . Travis, L. B. (2017, July 01). Variants in WFS1and Other Mendelian
Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. Retrieved
March 27, 2019, from https://www.ncbi.nlm.nih.gov/pubmed/28039263
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