Effects of Providing Patients with Information on Their Genetic Predisposition to Diseases - Essay Example

?Research Paper The positive and negative effects of providing patients with information on their genetic predisposition to diseases 0 Introduction The purpose of this research report is to demonstrate the merits and demerits of informing people about their genetic predisposition to diseases. Information was retrieved via secondary research that was based on thorough review of scholarly journals, accredited websites and books. Numerous ways and means have been identified to reveal an individual’s genetic predisposition to diseases; however this research report evaluates the potential consequences of doing this and the ethical implications of this practice. Awareness of the genetic predisposition to diseases will trigger the notion of taking pro-active measures to ensure health safety in the public. Cooperation and encouragement of the government of Australia are some of the most fundamental requirements of this notion. This research report will generate useful information for a common man as well as for the government of Australia to some extent who will be able to use this information to make informed decisions while making the policies regarding the promotion or restriction of disclosing the genetic predisposition to diseases to people. Researchers hold the consensus that human genetic predisposition is the cause of most chronic diseases. In a vast majority of cases, it takes more than a single defective gene to cause the disease. Nevertheless, this remains a fact that genetic component is the most fundamental causal factor in a lot of common diseases experienced in adulthood including schizophrenia, hypertension, diabetes mellitus, and several congenital malformations that include but are not limited to neural tube defects, cleft lip, and cleft palate. This has conventionally generated a consensus among the doctors that many individual genes play a little yet considerable role in predisposing a person to a particular condition of genetics. Despite that, identifying the genes causing a particular disease is a very cumbersome target to achieve. In order to determine and sequence such a gene, it is imperative that the scientists are able to tell a gene that is equipped with the predisposing power for a specific disorder from the others. This raises a question for the scientists whether going through such a tough process is worth it when the information has mixed effects on the life of the individual whose genes are being assessed. Telling an individual that he/she carries a certain gene that caused an awful disease in his/her parents can be very overwhelming and stressful for the individual. On the other hand, knowledge of the existence of a dangerous gene and the likelihood of acquiring the disease in the future gets very alarming for the individual and he/she is able to take preventive measures in time. Thus, informing the individuals about their genetic predisposition to diseases has both positive and negative outcomes. This research paper is directed at identifying the potential pros and cons of letting the people know their genetic predisposition to diseases. 1.1  Background and recent findings  In order to perceive the way of portrayal of genetics and the scientists’ role in it, popular media has been studied a number of times by different researchers (Condit, Ofulue, & Sheedy 1998; Henderson and Kitzinger 1999, Conrad 2001, Petersen 2001, and Bubela & Caulfield 2004). Other researchers have conducted in-depth analysis of the published editorials and journal articles with a view to examining the way developments in genetics have conventionally been recorded by the clinicians and past researchers and what role they have played in advancing the field of genetics (Cunningham-Burley & Amos 1999). Editorials are one of the most fundamental sources of information about the portrayal of genetics. “Published in peer-reviewed journals, editorials allow leaders of the research and clinical communities to provide commentary on developments in science and clinical practice” (Miller, Ahern, Smith, and Harvey 2005, p. 2374). Genomic medicine cultivates as an approach in the nature of genomic sciences. “As a clinical paradigm, genomic medicine will provide global, comprehensive, and multidimensional treatment and management strategies based on the science now emerging from the study of genomes” (Willard 2004). The stage at which a disease is treated plays a fundamental role in making the treatment successful or failure. Most diseases can not be treated when they get in their terminal stage. In the practice of studying an individual’s genetic predisposition to diseases, the likelihood of disease is determined even before the symptoms have started to show up. In fact, the disease has never occurred but its likelihood has been determined. This generates an impulse in the individual to take proactive treatment, which is not only effective in limiting the likelihood of occurrence of the disease, but is also much more cost effective in nature than any treatment that may be taken after the occurrence of disease. Thus, it is like paying the premium for good health to escape the risk of damage to health at least with respect to a specific disease. Having genetic predisposition to a certain disease does not necessarily mean that an individual would fall prey to it at least once in the lifetime. For example, diabetes is one of the genetically transferred diseases. But twin studies have shown that acquiring diabetes is not necessarily a result of the genetic predisposition to it. Only half of identical twins with a diabetic twin sibling will also become type 1 diabetic. However, the likelihood of an identical twin developing type 2 diabetes when a twin sibling has type 2 is much greater with a 75% chance of type 2 onset. (Gavin 2006). What is more important that certain factors that serve as catalysts in making a genetic disease occur are controlled. In the year 2005, the roots of AMD were traced by researchers in the genes. The researchers found that the risk of AMD was significantly more in people with genetic predisposition to it and were either obese or smokers or both as compared to the people who were neither obese not smokers but had genetic predisposition to AMD. “…people with the CFH mutation have a four-times higher risk than those without it. But if those same people smoke, their risk doubles, to 8.69. If they are obese, their risk rises 12-fold” (Cameron 2007). From the results of this research, the influence of environmental factors upon the materialization of genetic diseases can be assessed. A 12-fold increase of risk of the disease with obesity also speaks of the importance of healthy living. Factors that serve as catalysts in making the genetic diseases actually occur (Cameron 2007). The idea of conducting the genetic analysis for determining individuals’ predisposition to diseases is not limited to gaining the individuals’ or government’s approval for the same, but also requires a lot of resources and efforts to be accomplished. The prospect of examining a person’s entire genome (or at least a large fraction of it) in order to make individualized risk predictions and treatment decisions is a tantalizing one….Having access to the entire human sequence is a necessary but insufficient prerequisite for genomic medicine. What is equally important is having the technology at hand to reliably visualize individual genomes (and their derivatives, the transcriptome, proteome and metabolome) for health information that, in combination with clinical data, can contribute to assessment of individual risks and guide clinical management and decision-making. [This makes] the prospect for developing truly individualized care…even more real. (Willard, Angrist, and Ginsburg 2005). Although the required technology is being possessed by more and more healthcare centers with the passage of time, yet there is lack of equipment in the hospitals in remote areas. Genetic predisposition to diseases, if permissible, should be available as a facility to each and every citizen of the nation. In fact, people living in the remote areas with lesser healthcare facilities available to them are at increased risk of acquiring the diseases whose traces are already there in their genes as compared to the residents of urban areas with increased health care facilities. Besides, if the practice of informing people about their genetic predisposition to diseases is allowed, it would make another tool of division and disparity between the rich and the poor. Medical healthcare has become very expensive and quite unaffordable for many in the contemporary age. Although the number of people acquiring medical insurance all over the world is increasing day by day, yet they have to present sufficient evidence to the insurance providers in order to secure the claimed advantages. In such circumstances, people need to have objective evidences for the need of treatment such as test reports and X-ray images. An individual is least likely to secure the claimed benefits with the evidence that he/she has a genetic predisposition for a certain kind of disease. There is a lot of subjectivity in this realization because of many reasons. First, the validity and reliability of the test results is doubtable unless the results are verified by at least two successive test reports. Nevertheless, verification of the test results does not justify treatment unless the symptoms are identified in the individual. Our genes may be a complex framework of some diseases as well as characteristic features that remain suppressive throughout the life as a result of our complementary habits and way of life. There are numerous factors that can keep the diseases from showing up ever that include but are not limited to the sort of diet we take, our physical activity, the environment in which we live, our lifestyle and the general state of mind. A healthy lifestyle is the most objective solution for a lot of diseases. So if the lifestyle is healthy, the need for proactive safety measures is totally obviated. In light of the analysis made in this paper, it can be safely said that the demerits of informing people about their genetic predisposition to diseases outweigh the merits of this practice. Therefore, it is better to limit the practice to special cases rather than promote it for all kinds of diseases in general. Instead of placing emphasis on the identification and proactive treatment of diseases, it is more advisable for both the government and the clinicians to work in close collaboration with each other to promote healthy lifestyle among the people. 2.0 Recommendations 1. The practice of determining the individuals’ genetic disposition to diseases should not be altogether abandoned. Instead, it should be limited to the cases in which patients show a strong recorded history of diseases transfer from one generation to another. 2. Before conducting the genetic analysis for a volunteering patient, the clinician should conduct a thorough interview with the patient. In that interview, the clinician should inquire the patient regarding the existence of a particular disease he/she is concerned about in two or more generations of the ancestors. In case the family history shows haphazard pattern of disease occurrence, genetic analysis should preferably be avoided. In case the family shows a robust history of disease occurrence in several generations, the clinician should discuss with the patient all potential consequences as well as the ethical implications of the practice before conducting the genetic analysis. 3. Before conducting the analysis, the clinician should make sure that the patient is financially able to take the proactive measures against the possibility of disease in case it is found in the genes. Not being able to afford the treatment after realizing that an individual is susceptible to a disease can cause unnecessary pain and havoc to the individual. It is also recommendable for the clinician to get the patient’s signature upon a draft that reads that the patient is aware of and assumes all responsibility for the consequences of the intended act of genetic analysis for disease tracing. 4. Many individuals say that they do understand the gravity if situation, but lose their balance once they find a certain disease in their genes. The clinician should make sure that an adequate patient post-analysis counseling program is in place in order to take care of such patients. 5. Before giving the individual any sort of treatment, the clinician should make sure that all natural and organic methods of reducing the susceptibility to disease have been tried. For a lot of genetic diseases, exercise and proper diet can be the ultimate solution. “The research, carried out by Dr. Ruth Loos … and colleagues, published in PLoS Medicine suggests that the genetic predisposition to obesity can be reduced by an average of 40% through increased physical activity” (Iron Magazine 2011). 6. Government of Australia should make sure that the technology and equipment required to conduct the analysis is available in all healthcare centers equally in the remote and advanced regions. 7. Clinicians should work in close collaboration with the researchers to identify the factors that serve as catalysts in making a genetic disease actually occur, and should direct their efforts at controlling those factors. “…understanding how the environment might affect a person’s genetic predisposition to a disease should help us understand the disease and its mechanisms better” (Hunter cited in Cameron 2007). 8. Government of Australia should also aid the medical researchers in their attempt to formulate a well-organized and strategic approach towards the treatment of diseases from their conception till their terminal stages. More medical research should go into identifying proactive measures for the treatment of genetic diseases. 9. In order to facilitate the people in getting the proactive treatment, government of Australia should simplify the process of offering loans to the public when they can show that they need the money for specifically this purpose. 3.0 References Bubela, T., and T. Caulfield. 2004. Do the print media ‘‘hype’’ genetic research? A comparison of newspaper stories and peer-reviewed research papers. Canadian Medical Association Journal 170(9): 1399–1407. Cameron, D. 2007. Age-related Vision Loss. Harvard Public Health Review. http://www.hsph.harvard.edu/review/spring07/spr07amd.html. (accessed: 4 September 2011). Condit, C., M. Ofulue, and K. Sheedy. 1998. Determinism and mass-media portrayals of genetics. American Journal of Human Genetics 62: 979–984. Conrad, P. 2001. Genetic optimism: Framing genes and mental illness in the news. Culture, Medicine and Psychiatry 25: 225–247. Cunningham-Burley, S., and A. Kerr. 1999. Defining the ‘social’: Towards an understanding of scientific and medical discourses on the social aspects of the new human genetics. Sociology of Health and Illness 21(5): 647–668. Gavin, M.D. 2006. Diabetes onset: A combination of genes & environmental Influences. http://www.isletsofhope.com/diabetes/information/genes_diagnosis_transmission_1.html. (accessed: 4 September 2011). Henderson, L., and J. Kitzinger. 1999. The human drama of genetics: ‘Hard’ and ‘soft’ media representations of inherited breast cancer. Sociology of Health and Illness 21(5): 560–578. Iron Magazine. 2011. Physical Activity Can Reduce the Genetic Predisposition to Obesity. http://www.ironmagazine.com/blog/2010/physical-activity-can-reduce-the-genetic-predisposition-to-obesity/. (accessed: 4 September 2011). Miller, F.A., C. Ahern, C.A. Smith, and E.A. Harvey. 2006. Understanding the new human genetics: A review of scientific editorials. Social Science & Medicine 62: 2373–2385. Petersen, A. 2001. Biofantasies: Genetics and medicine in the print news media. Social Science and Medicine 52: 1255–1268. Willard H.F., M. Angrist, and G.S. Ginsburg. 2005. Genomic medicine: genetic variation and its impact on the future of health care. Phil Trans R Soc B 360:1543–1550 Read More