Disease Development and Detection
Disease Development and Detection
NR514-NEED RESPONSES
The likelihood of a person developing a disease lies in the genetic makeup of the individual (Aradhya & Nussbaum, 2018, p. 473). For more than a century, human geneticists have focused their studies on finding the relationship between gene variation and disease risk variation (Hernandez et al., 2006, p. 15). Learning about our genetics is essential for health promotion and disease prevention. A positive impact of knowing the genetic propensity to develop a disease gives a better understanding of one’s health and the possibility of developing a condition such as breast cancer. It also provides the opportunity to make changes in a person’s lifestyle or opt for preventive medicine such as prophylactic mastectomy (Aradhya & Nussbaum, 2018, p. 475).
On the other hand, knowing the genetic propensity can also have a negative impact on people’s lives. It could lead to anxiety and depression. For instance, in the case of getting tested for BRCA1 and BRCA2 susceptibility genes, which are mutations linked to a higher risk of breast and ovarian cancer, women’s level of anxiety was found to be highly increased due to cancer-related worry (Mella et al., 2017, p. 4). Uncertainness will affect the individual involved and the entire family, work, and personal relationships.
A friend of mine whose family has a significant history of breast cancer decided to get genetic tests done. After learning the positive results of her BRCA mutation, she decided to get a preventive mastectomy at 29 years old. Before having the test done, she lived with constant anxiety and fear of leaving her children without a mother. As stated by Giannakeas & Narod (2018), the decision to have a preventive mastectomy is a personal one, and women have several concerns, some of which are related to the experience of the surgery and some are related to the expected reduction in cancer risk and mortality (p. 263).
References
Aradhya, S., & Nussbaum, R. L. (2018). Genetics in mainstream medicine: Finally, within grasp to influence healthcare globally. Molecular Genetics & Genomic Medicine, 6(4), 473-480. https://doi.org/10.1002/mgg3.415
Giannakeas, V., & Narod, S. A. (2018). The expected benefit of preventive mastectomy on breast cancer incidence and mortality in BRCA mutation carriers, by age at mastectomy. Breast Cancer Research and Treatment, 167(1), 263-267. https://doi.org/10.1007/s10549-017-4476-1
Hernandez, L. M., Blazer, D. G., & Institute of Medicine (U.S.). Committee on Assessing Interactions, Among Social, Behavioral, and Genetic Factors in Health. (2006). Genes, behavior, and the social environment: Moving beyond the nature/nurture debate (Ser. Online access: national academy of sciences national academies press). National Academies Press. Retrieved April 19, 2022, from INSERT-MISSING-URL.
Mella, S., Muzzatti, B., Dolcetti, R., & Annunziata, M. A. (2017). Emotional impact on the results of BRCA1 and BRCA2 genetic test: An observational retrospective study. Hereditary Cancer in Clinical Practice, 15(1), 16-16. https://doi.org/10.1186/s13053-017-0077-6
Positive Effects of knowing the genetic propensity of a person to develop a disease would help to understand the consequences of diet, lifestyle, environmental impacts to recognize associated risk factors to avoid in order to enhance the quality of life and prolong a diagnosis of disease (Fehr et al., 2014).
Negative effects could increase one’s anxiety and impact their mental health outlook on life by understanding they are at a higher risk of specific genetic disease processes. If there is a lack of health support and health literacy, various negative experiences could develop and further escalate disease processes. Ethically, one would need to evaluate if the information is appropriate to share based on the individual’s cognitive abilities and if they want to know (Fehr et al., 2014).
The success or failure of integrating genetic information on health impact assessments (HIAs) starts with education, and the public understanding of the concept, goals, and benefits is vital to sustainability. If the shared information is not meaningful or provided with context transparently, there is an increased probability that people will not trust the guidance, and fear-mongering will occur (Fehr et al., 2014; Melillo,2022).
Interlinking information on genome and environment can help patients understand gene-environment interaction and disease risk comprehension. The collection of genomic information enables the development of systems biology and advances personalized medicine. Overall there is a high public health impact, and the information can lead to limiting exposure (Adam et al., 2020). However, careful consideration must be given to medical ethics, equity, accountability, and access to care for it to be inclusive.
References
Ádám, B., Lovas, S., & Ádány, R. (2020). Use of Genomic Information in Health Impact Assessment is Yet to Come: A Systematic Review. International Journal of Environmental Research and Public Health, 17(24), 1–20. https://doi.org/10.3390/ijerph17249417
Fehr R, Viliani F, Nowacki J, Martuzzi M, editors (2014). Health in Impact Assessments: Opportunities not to be missed. Copenhagen: WHO Regional Office for Europe.
Melillo, G. (2022, February 7). Has the Time Arrived to Incorporate Genetic Testing Into Health Care? AJMC. Retrieved April 18, 2022, from https://www.ajmc.com/view/has-the-time-arrived-to-incorporate-genetic-testing-into-health-care-
A genetic predisposition is the increased likelihood or chance of developing a particular disease due to the presence of one or more gene mutations and/or a family history that indicates an increased risk of the disease (National Cancer Institute n.d.) . The impact of knowing your genetic propensity to develop a disease can have positive and negative consequences. Information can enhance or reduce people’s sense that they understand the world around them (Sharot et al. 2020). According to the Society of Human Genetics (ASHG), all diseases or medical conditions have a genetic component (2019). It is estimated that 3-7% of the general population will be diagnosed with a recognized genetic disorder, not including common disorders such as cancer, diabetes, heart disease, and psychiatric disorders ASHG 2019). Positive impacts of knowing genetic propensity include earlier detection, by identifying genetic predisposition to a particular disease, new approaches to treatment, and development of designer drugs that target a mutation or its products (ASHG 2019).
Negative impacts of knowing the genetic propensity of a person to develop a disease include anxiety and stress as genetic testing will not definitively tell whether you will develop a particular health condition, it only tells the risk levels. Another negative possibility is that of genetic discrimintation. Although it is illegal to discriminate someone due to their genetic information, it may be allowed under some narrow circumstances according to the US Equal Employment Opportunity Commission (n.d)
A Health Impact Assessment is a process that helps evaluate the potential health effects of a plan, project, or policy before it is built or implemented. It can also provide practical recommendations to increase positive health effects and minimize negative health effects(CDC 2016). Applying genetic information of a certain population of people, such as those prone to obesity would definitely play a role in a health impact assessment.
References
American Society of Human Genetics. (2019, November 21). American Society of Human Genetics. ASHG. Retrieved April 18, 2022, from https://www.ashg.org/discover-genetics/testing-privacy/
Centers for Disease Control and Prevention. (2016, September 19). Healthy places. Centers for Disease Control and Prevention. Retrieved April 18, 2022, from https://www.cdc.gov/healthyplaces/hia.htm
National Institutes of Health. (n.d.). NCI Dictionary of Genetics terms. National Cancer Institute. Retrieved April 18, 2022, from https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/genetic-predisposition
US Equal Employment Opportunity Commission. (n.d.). Genetic information – faqs. US EEOC. Retrieved April 18, 2022, from https://www.eeoc.gov/youth/genetic-information-faqs#:~:text=Genetic%20information%20discrimination%20also%20occurs%20when%20an%20employer%20unlawfully%20shares,recently%20diagnosed%20with%20heart%20disease .
Sharot, T., & Sunstein, C. R. (2020). How people decide what they want to know. Nature Human Behaviour, 4(1), 14–19. https://doi.org/10.1038/s41562-019-0793-1
Positive aspects of knowing the genetic results from tests and screenings are that this approach can help define if one is at risk for a certain diagnosis or is a genetic carrier of a disease such as cancer. This allows for more frequent surveillance of individuals and because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives (National Library of Medicine, n.d.).
Negative aspects of knowing the genetic propensity of a person to develop or be a carrier of a disease can be associated with risks such as those that involve the emotional, social, or financial consequences of the test results. The National Library of Medicine (n.d.) also informs us that in some cases, genetic testing can create tension within a family because the results reveal information about other family members in addition to the person who is tested. Moreover, negative outcomes may precede the possibility of genetic discrimination in employment or insurance.
Health professionals can integrate genomics into a health assessment by taking careful family histories, recognizing the significance of high-risk populations, and advocating for personalized care through targeted screenings and examination considering specifications within diverse or defined health backgrounds. These efforts will aid in the integration of clinical research, individualized care, and positive health outcomes. Personalized approaches are changing health outcomes for optimal quality of health, care, and human life. Nurses and practitioners see how different treatments work for different patients and continue to advocate for individualized care (Key, B., and Mumba, M., 2019). Researchers have focused on the significance of genomic-specific studies to continue to advance the health outcomes of diverse populations, while precision medicine includes methods to promote individualized care.
Key, B. A., & Mumba, M. (2019). Using precision medicine to individualize healthcare. Nursing, 49(8), 43–45. https://doi.org/10.1097/01.NURSE.0000569760.88666.61
MedlinePlus Health Information from the National Library of Medicine, Updated 23 March 2022. (n.d.). What do the results of genetic tests mean? MedlinePlus. Retrieved April 18, 2022, from https://medlineplus.gov/genetics/understanding/testing/interpretingresults/
MedlinePlus Health Information from the National Library of Medicine, Updated 23 March 2022. (n.d.). What are the risks and limitations of genetic testing? Retrieved April 19, 2022, https://medlineplus.gov/genetics/understanding/testing/riskslimitations/
