Genetic Mutation and Public Health Interventions (Huntington’s disease)
The role of governmental public health institutions in addressing advancements in genetics encompasses three key functions for practice in public health. These functions include the assessment of data on the health of the populations, assurance of health services of high quality and development of policies to serve the interests of the public through the promotion of the utilization of scientific skills and knowledge. The Centers for Disease Control and Prevention together with other local and state health departments currently have more oversight of large databases on health care and with these records; they are able to determine the benefit for interventions and the need for intervention. Examples of these interventions include educational programs for the populations and screening programs for certain diseases, studies call for more surveillance data for the purposes of determining the frequency of genetic mutations among the populations that predispose them to certain diseases and disorders (Khoury, Burke & Thomson, 2000). This essay will look at the genetic mutations involved in Huntington’s disease and analyze some of the public health interventions associated with the disorder. To achieve this, the paper will illustrate some of the impacts of genetic mutations on research by both public and private institutions, show items elements and features related to the disease in addition to showing some of the interventions available for identifying the disease.
Huntington’s disease is a degenerative disorder affecting the brain, in which the affected individual loses their abilities to talk, walk, and reason and even think. These individuals easily become stressed and depressed and in most cases lose their short- term memory abilities; the patients might experience a lack of focus and concentration. The disease in most cases affects individuals between the ages of 30 and 45, and each person carrying a gene that codes for the disease eventually becomes affiliated with the disorder. Huntington’s disease is an autosomal dominant genetic disease that means that is a parent carries the defective gene of the disease then it is likely that his or her offspring will inherit the disease (Jones, 1998).
The role of public health institutions is to make sure that the most basic conditions needed for populations to be healthy are available. Until recently, institutions in public health focused more on environmental risk factors and causes for disease like infections, diet and smoking. However, since the sequencing of the human genome has been done and completed, high hopes are present about the potential and ability to prevent the effects of genetic susceptibilities and risk factors. Developments in genetic technology and knowledge could be utilized to improve the health of population and prevent disease. The perceived function of genetics is changing in public health, as is the definition and explanation of what are genetic diseases (Khoury, Burke & Thomson, 2000).
The function of genetics in public health is widened if one considers all the disorders and diseases for which genetics might act, either by the presence of genetic factors with protective abilities like infection resistance, or by the presence of genetic risk factors for the development of Huntington’s disease or for treatment response. In the future, it might become possible to determine for each person, which genetic risk factors and protective elements each person has, and use such knowledge to prevent the occurrence of disease. However, currently the function of genetics in public health is usually limited to disorders referred to as monogenic diseases (Khoury, Burke & Thomson, 2000).
Genetic mutations involved in Huntington’s disease have several effects on all levels of private and public research. The outlook for addressing the questions posed by Huntington’s disease has never been more vibrant and promising. In 1993, scientists finally had the ability to identify the gene that leads to the development of Huntington’s disease. Momentum in research in the disorder continues to increase the understanding people have of the genes involved in the disease and how the gene functions. Developments in research or current research projects could provide the next key discovery. The Huntington’s disease Society of America provides funding for both basic research and clinical research at leading research facilities and hospitals through HDSA Coalition for cure, HDSA centers of Excellence for Family services and HDSA Grants and Fellowship programs (Jones, 1998).
Research is currently going on to come up with new ways to fight the disorder, scientists are looking for methods to delay the start of the disease or stop the progression as the cure is developed. Other efforts in research are determining the impacts of HD, how the disease manifests itself and how or if successful trials in animal models can be translated successfully to human treatments. Research on the impacts of surgical transplantation tissue and stem cells is also going on. Both clinical and basic research continues to facilitate new tests in drugs (Jones, 1998).
Studies have identified a different kind of homology involved with the genes in Huntington’s disease that is extremely different from other kinds of homology. Huntingtin protein also referred to as Htt is the one responsible for the Huntington disease through mutation. It interacts with several proteins that participate in numerous cellular pathways. This observation shows that the wild type Huntingtin protein changes these processes in the case of Huntington’s disease. The functions of these interacting Htt proteins in HD pathogenesis are not well known. In HD the Htt interacting nucleotide 1, also known as HIP- 1 together with HIPP1, its interacting partner regulates gene expression and apoptosis, processes that are both implicated in Huntington’s disease (Jones, 1998).
Governments and political leaders and parties play a significant role in developments and research to prevent Huntington’s disease. For instance, many governments avail funds to research institutions, especially public ones, to carry out research on treatments and ways of reverting or treating this disorder. Most public research institutions are supported by governments to come up with new advancements to deal with the disease. In addition to this, governments also play a significant role in approving and passing of bills concerned with the disease. For instance, there are bills that suggest the screening of people before they have children or aborting fetuses thought to have the disease. However, some of these bills are in their initial stages, their approval or disapproval could lead to significant effects on efforts to prevent Huntington’s disease (Annas, 2001).
Biological, molecular and genetic factors are also significant in public health practices directed at preventing this disorder. Generic screening and testing have become a significant part of modern public health and medicine initiatives. All these initiatives are possible because of advancements in biological, molecular and genetic studies that have led to the identification of the genes and biological factors involved in the disease. Genetic testing is a term used to describe genetic tests done on people on voluntary basis. Screening, on the other hand, describes public health initiatives that are large scale. The impetus to pinpointing the genes responsible for a certain disease or responsible for risk factor associated with the disease implies the presence of the ability to act on such knowledge for the purposes of providing people with timely treatments, avoiding exposure to risk factors and influencing choices in reproduction (Slatkin, 2009).
There are different kinds of interventions available in public health at the initial stages of identification of Huntington’s disease. For instance, prenatal diagnosis, embryo selection and assisted reproduction are some of these interventions. Assisted reproduction has made it possible to redefine critical concepts like maternity and paternity. Medical terms have now changed to gestational mother, biological mother and social mother to accommodate for these interventions. Other individuals other than the infertile couples are currently using assisted reproduction. It is available to the individuals who wish to make sure that their off springs are born without certain hereditary diseases or even to ensure that their off springs will be matched donors for other off springs who might need bone marrow transplants. Genetic tests performed on fetuses allow one to select only those embryos that fit a particular criterion. Currently, this scientific technology is being used to avoid the birth of children with serious hereditary diseases (Stoto, Almario & McCormick, 1999).
Huntington’s disease is grave genetic disorder that can be passed from a parent to an offspring. The disease has affected several areas like research, government and private institutions, among other areas concerned with efforts to prevent the disease. While the effects of genetic diseases such as Huntington’s are still insignificant and limited, it is expected to keep on growing in future, as knowledge and advancements in genetics increase. Today’s cases of the utilization of genetics in public health institutions can be used as examples for the future.
Annas, G. (2001). The Limits of State Laws to Protect Genetic Information. New England Journal of Medicine, 345 (5).
Jones, R. (1998). Walking the Tightrope: Living at risk for Huntington’s disease. Huntington’s disease Society of America.
Khoury, M., Burke, W. & Thomson, E. (2000). Genetics and public health. New York: Oxford University Press.
Slatkin, M. (2009). Epigenetic inheritance and the missing heritability problem genetics. Genetics, 182: 845.
Stoto, M., Almario, D. & McCormick, M. (1999). Reducing the Odds. Washington, D.C.: National Academy Press.