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Genetics: Heritability Report
Order Instructions: From the syllabus:
Recognize that genes are associated with physical and behavioral traits, and that these associations can be established and studied using the tools of molecular biology
Recognize the commonalities underlying human genetic disease and identify the most prevalent types of human genetic illness in order to use the specific avenues for the screening, counseling, risk management, and treatment of genetic diseases
You are expected to select a human genetic disease or disorder that is known to be heritable (a disorder that can be accounted for partially by genetic variation, but also by some other factor, including polygenic factors and/or environmental factors).
Genetics: Heritability Report
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Unlike your last assignment, this is not a monogenic disorder but a complex disorder. A) Select the heritable trait and discuss the manifestations and prognosis of the disorder. B) Provide a summary of research devoted to risk outcome for the disorder. That is, what is the risk of full-blown manifestations of the disease trait under various environmental or physiological conditions?
For example, a person who suffers from alcoholism can avoid the full manifestations of the disease by avoiding environments where alcoholic beverages are readily available. Your paper should be three pages long, double spaced, and should include the items discussed above, along with a separate bibliography section detailing all text and online references used to construct the report.
This assignment is worth 100 points (40 points for proper selection and explanation of a characterized heritable disease with physiological or behavioral outcomes, 40 points for proper risk outcome research, and 20 points for a well-prepared bibliography).
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Systemic Analysis of the Family
Overview: As a human services practitioner, you have a variety of tools at your disposal to help with analyzing the strengths and needs of the families you work with and the communities in which they reside. In this milestone, you will choose at least two tools, which you practiced with in the Module Two and Three discussion topics, to apply to and analyze the needs and strengths of the Riverez family, which is the family you will be focusing on for the submission of your final care plan in Module Seven.
Prompt: Choose at least two of the tools you explored in the Modules Two and Three discussion assignments and apply them to analyze the needs of the Riverez family and the community in which they reside.
Specifically, the following critical elements must be addressed:
II. Systemic Analysis of the Family
A. Select one or more systemic family analysis instrument(s) (i.e., sociograms, culturagrams, ecomaps, genograms, etc.) for determining what is appropriate in the case scenario. Provide justification as to which assessment instrument(s) would best flesh out the issues that exist in this scenario. Use the selected instrument(s) and apply it to the case scenario.
1. What information did you derive from the assessment?
2. How do you think your selected assessment will help to frame your approach to working with the family? What interventions or resources could be beneficial to this family based on your assessment?
III. Systemic Analysis of the Community
A. Select one or more systemic community analysis instrument(s) (i.e., sociograms, culturagrams, ecomaps, genograms, etc.) for determining what is appropriate in the case scenario. Provide justification as to which assessment instrument(s) would best flesh out the systemic cultural, social, economic, and educational issues and strengths that exist in this scenario? Use the selected instrument(s) and apply it to the case.
1. What information did you derive from the assessment?
2. How will your selected assessment help to frame your approach to working within the community? What interventions or resources could be beneficial for this community based on your assessment?
Systemic Analysis of the Family
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BRCA1 Gene of Breast Cancer
If you were Rachel’s healthcare provider, what would you do? Provide a rationale for your response
All the patients in the healthcare sector are privy to patient confidentiality. Physicians are not required to release any information regarding their patient to anyone without their consent. The sole purpose of having patient confidentiality is to build a good relationship between the patient and the physician. It also prevents stigmatization of patients suffering from certain disease conditions (Stephens et al., 2012).
However, there instances where patient confidentiality is breached. This occurs in cases where there is concern or safety for other individuals. This means that the disease condition affects another party which has no information regarding the disease. In the case study, Rachel is predisposed to breast cancer since it has been established that she has the BRCA1 Gene of Breast Cancer (Stephens et al., 2012). Since the gene is inherited, there is a high likelihood that both her sisters may be predisposed.
Rachel does not want her sister to know that her sister has the disease condition (Bombonati & Sgroi, 2011). As already established patient confidentiality exists between Rachel and me. However, failure to inform the other party would significantly affect their health status (Bombonati & Sgroi, 2011). Thus, in this case, I would advise Rachel to talk to both her sisters since the case will not involve patient confidentiality. If Rachel does not do so, I would advise them to talk to a different genetic counselor with the hope that she changes her mind.
BRCA1 Gene of Breast Cancer
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Include the pathological processes associated with breast cancer. What role does the BRCA1 gene contribute to managing the patient’s care?
Breast cancer is a multistep process that is triggered with a defect in the cell cycle that regulates how cells divide in the breast. According to Bombonati & Sgroi (2011), breast cancer is made up of four steps. The first step after the dysregulation of the cell cycle processes is the formation of a flat epithelial atypia which is progress to atypical ductal hyperplasia. After some time, it progresses to ductal carcinoma in situ before finally moving the lethal stage that is known as invasive ductal carcinoma (Bombonati & Sgroi, 2011).Once the last stage has developed the disease starts to metastasize and establishes its blood supply and other important physiologic molecules.
BRCA1 gene has been implicated in the majority of the hereditary ovarian and breast cancers. Physicians normally look for this gene mutation through the family history. Once the physicians have established that patients have these genes, the patient is genetically tested, and if the results turn out to be positive, the patient undergoes prophylactic treatment which is used to prevent ovarian and breast cancer (Bombonati & Sgroi, 2011). The presence of the gene BRCA1 assists patients to know their disease state.
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BRCA1 Gene of Breast Cancer
Describe and explain the role of the BRCA1 and breast cancer 2, an early onset (BRCA2) gene in contribution as a risk factor for breast cancer.
Two genes that have been identified that predispose women to breast cancer. Genetic mutations in the germline of BRCA1 gene predispose 15-45% of all cases of hereditary breast cancer. It has also been associated with 60-80% of all the breast cancer cases in women.
Additionally, it has been associated with 20-40% 0f all the ovarian cancers. Mutations associated with the gene BRCA2 have been known to have a less incidence of breast cancer. The case is low compared to that of BRAC1 (Stephens et al., 2012). Anyone associated with the gene BRAC2 has a 6% incidence of developing breast cancer in their lifetime.
Analyze the risk factors for breast cancer and possible interventions to preventive health management for women and men.
Several factors increase the risks associated with mutations in the genes BRAC1 and BRAC2. Such factors include the presence of bilateral cancer in the same women, family history of breast cancer and cases of having a genetic mutation in the BRAC1 and BRAC2 gene in the family (Stephens et al., 2012). Other factors include alcohol consumption, radiation exposure, being overweight, environmental chemicals and postmenopausal weight gain.
The first preventive measure involves undergoing breast cancer screening that can detect the presence of the gene defects associated with BRAC1 and BRAC2. Several different types of tests are available. They include mammograms, use of biopsies, clinical breast exams, hormone receptor assays and magnetic resonance imaging (Stephens et al., 2012). Early detection is key to early treatment. The other factors are easily preventable. For example, physical activity reduces incidences of being overweight.
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Genetically modified organisms (GMOs)
What is GMOs and its purpose?
Genetically modified organisms (GMOs) are organisms whose genes have been modified through addition of a gene that enables the genetically engineered crops express the specific desirable trait. The main aim of genetic engineering of organisms is to improve the nutritional qualities of an organism (Bratspies, n.d.).
For instance, several crops have been engineered to make them resistant to herbicides, become tolerant to extreme environments such as droughts, or add the nutritional value of an organism. The general goal or objective is to make the yield of the plant or animal increase; and to make the products desirable to producers as well as the consumers (World Health Organization, 2013).
How Genetically modified organisms (GMOs) are created?
The key steps in creating GMOs include the identification of key steps, specific trait isolation, insertion of the isolated trait into the organism, and organism propagation. Research continues to identify new methods to manipulate the organism’s genes; the most common method that has been used is using bacterial phage’s to insert new genome into the host genome where it is expressed. This has been done successfully for example, in maize using Baccillus thuringiensis. The current genetic engineering methods involve editing of the genome directly (Perry, n.d.)
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Genetically modified organisms (GMOs) foods in the supermarket
The USA is the leader of producing GMOs, which accounts for at least 66% of the GMOs globally. According to Centre for Food Safety, approximately70% of the foods reaches the supermarkets. These include soybean, corn, canola, sugar beet, alfalfa, aspartame, dairy products, papaya, and squash. Approximately, 70% of products made from these substances are GMOs derivatives.
Importantly, the livestock reared for their by-products such as cattle, sheep, poultry and swine have not been genetically engineered, nor are they going to be any time soon. However, GMOs play a huge role in the animal feeds as well as during the processing of these animals by products. The animals that have been genetically engineered for pharmaceutical by products (insulin in sheep) are not approved to be used as food (World Health Organization, 2013).
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Safety issues for Genetically modified organisms (GMOs) food
The issue of GMOs safety is highly controversial. Some people perceive GMOs as health threats whereas some food regulatory bodies (U.S. Department of Agriculture) deem GMOs food as safe. There are few studies that have highlighted potential risks of GMOs to human health, farmers, and the environment as a whole. This includes allergic response to some proteins in GMOs food.
Other risks that have been reported by other research include risks of outcrossing for plants (environmental issue), modification of major organs, infertility, immunological response and faulty regulation of insulin. However, most of these studies have been inconclusive- an area in research that needs more exploration (Centre for Food Safety, 2015).
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Altogether, it is vital to note that there are national and international authorities established whose role is to solely assess the GMOs food rigorously before they are approved for commercialization. These agencies focuses on the safety of GM foods by conducting toxicity tests to identify a) immediate, b) allergenicity, c) stability of the modified genome and the gene inserted, d) nutritional changes and effects associated with the modification, and e) any other unprecedented effects. The GMOs food in our supermarket shelf has met the standard criteria of the tests; thus, are less likely to cause harm (World Health Organization, 2013).
Additionally, the benefits of GMOs outweigh the risks. The benefits includes increased savings through reduction of costs involved during planting and harvesting of the food; reduced cost of production results to low retail of the product. The benefits of nutrition improvement are evidenced in crops such as the golden rice which contains the iron and beta-carotene and insulin producing potatoes. These plants species have not been approved yet, but the research is still underway to increase the productivity as well as the efficiencies of the crop. If biotechnology is embraced, one can only imagine the potential health improvements that will be attained (Centre for Food Safety, 2015).
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Regulation of Genetically modified organisms (GMOs)
In the USA, GMOs laws involve three regulatory agencies including, the US Department of Agriculture (USDA), Food and Drug Administration (FDA), and Environmental Protection Agency (EPA)). The USDA responsibility is to ensure that the GMOs pose no threats to the health of the plants and the animals. Therefore, the GMOs researchers and developers are expected to apply for permit to address these potential risks. The EPA has a major role in the regulation of GMOs, especially those that have pesticide genomes (Centre for Food Safety, 2015).
The agencies set regulations such as the acceptable levels of the pesticide. The developers are expected to describe the short term and long term pesticide consequences on the livestock, human, and the environment. In human health, FDA carries the largest role as it is mandated to regulate the safety of the GMOs consumed by the people. FDA ensures that the GMOs foods are not toxic or allergenic (Centre for Food Safety, 2015).
The main issue that needs to be regulated includes the labelling of the GMOs food or products derived from these food products. This will ensure that only safe GMOs is allowed to be commercialized, and must be clearly labelled to ensure that consumers ethical right of autonomy is sustained (World Health Organization, 2013).
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References
Bratspies, R. The Illusion of Care: Regulation, Uncertainty, and Genetically Modified Food Crops. SSRN Electronic Journal. http://dx.doi.org/10.2139/ssrn.353320
Perry, M. Genetically Modified Organisms: Why We Need a Transparent System of Regulation. SSRN Electronic Journal. http://dx.doi.org/10.2139/ssrn.1533657
