Other Question: WEEK: Discussion response Type of document: Assignment

Week 11 Question 1
October 1, 2018
October 1, 2018

Other Sources: 2, APA Instructions: Explore the human genome project website:http://www.genome.gov/12011238 Discuss the implications of the human genome project for disease identification and management. Research and discuss individualized medicine using genetic analysis (you can pick one (1) disease to discuss). Develop a plan for prevention including patient education and community intervention. i. Identify characteristics of Down syndrome and factors that increase the risk for Down Syndrome. ii. Identify characteristics of Sickle Cell Anemia and estimate the probability of occurrence when the carrier status is known. Unknown? iii. Identify characteristics of Cystic Fibrosis and describe how it is inherited. iv. Describe the importance of mutations in the development of breast cancer. Your post is due by Wednesday. You must respond to at least 2 of your classmates’ posts by Friday. Your discussion should be thoughtful and answer the questions that are put forth. You should use peer-reviewed journal articles or textbooks and include proper APA references and citations. Discussion Response. Dear writer, Review post from the fellow learners below, and write a response for each discussion post, with on reference citation to each post. Thank you Post from D* W*: mplications of the Human Genome Project The Human Genome Project (HGP) is a “worldwide project conducted by geneticists that aims to identify and map all the genes on every chromosome (VanMeter, Hubert, & Gould, 2014, p. 570). This project is a collective, international research program who desires to map and understand all of the genes that make up the human genome, and according to the National Human Genome Research Institution, the project has been quite successful (“An Overview of the Human Genome Project”, 2016). With the new-found knowledge of how many genes the human genome possesses and a complete sequence of it’s billions of base pairs, this research provides a future of increased understanding of congenital and genetic disorders. Medically, the implications for such monumental research will be life changing. Medical research facilities and physicians will now have a deeper understanding that will allow them to better diagnose, treat, prevent, and even cure these disorders. This, in turn, will provide patients who are victims of such disorders a better prognosis and quality of life. Down syndrome Down syndrome, also known as trisomy 21, is a common chromosomal disorder, resulting in numerous defects in physical and mental development (VanMeter, Hubert, & Gould, 2014, p. 580). It is a trisomy disorder. This means that there are three chromosomes rather than the normal two in the 21st chromosomal position which results in a total of 47 chromosomes (VanMeter, Hubert, & Gould, 2014, p. 576). This chromosomal anomaly develops when an error occurs during meiosis of the chromosomes in which DNA fragments are displaced, thus altering genetic information (VanMeter, Hubert, & Gould, 2014, p. 573.) Characteristics of Down syndrome Down syndrome is displayed through many identifying characteristics. For example, a person with this disorder usually has a small head, slanted eyes, protruding tongue with a high-arched palate, small hands with a single palmar crease, is short in stature, has hypotonia, and is developmentally delayed. These accompanied by visual and hearing problems, lowered immune defense, and congenital heart diseases are usually all that is needed to diagnose a patient with Down Syndrome. Factors That Increase the Risk for Down syndrome Birthing a child with Down syndrome could be highly influenced by certain factors. There are the obvious factors such as exposure to harmful materials like radiation, drugs, or alcohol that could aid in the addition of the extra chromosome. However, the increasing age of the maternal parent seems to elevate the risk that the child will be born with Down syndrome. Research shows that a mother at age 30 is at risk of approximately 1 in 1000 of bearing a child with Down syndrome, whereas at age 35 the risk increases to 1 in 500 and at age 40 to 1 in 100 (VanMeter, Hubert, & Gould, 2014, p. 580). According to the National Down Syndrome Project (2007), “of all informative cases, 93.2% were the result of chromosome nondisjunction during meiosis in the maternal germ cells and, of these, 72.6% occurred during meiosis I.” This information was in light of a study to help determine if it was, in fact, due to the increasing age of the maternal parent or the paternal parent. Their research proved to be one-sided as only “4.1%” occurred during the meiosis in the sperm. A Plan for Prevention In light of all of the research that has been performed on this specific topic, I feel that it is important that it be made more readily available to the public. People should be more aware of the risks that lead to trisomy 21. Healthcare workers, facilities, or even informed groups could host gatherings for more information on the subject, pass out flyers, increase the amount of public literature, and extend a more detailed plan for prevention to secondary and post-secondary educational facilities. The earlier that the risk factors are made known the greater the spread of information will be. Although the public has heard of these same precautions at some point before, it would benefit the prevention of the disorder if they were re-educated. Also, women that are considering having children that are 35 years old or more should be advised on the increased risk of their child having trisomy 21, and she should be made aware that prenatal testing and diagnosing is available to help her make educated decisions and preparations. A test like the triple screen test on maternal blood followed by an amniocentesis can detect Down syndrome which will provide them with the opportunity to make vital decisions about their and their child’s future (VanMeter, Hubert, & Gould, 2014, p.580). References An Overview of the Human Genome Project. (2016, May 11). Retrieved September 03, 2017, from https://www.genome.gov/12011238/ Freeman, S. B., Allen, E. G., Oxford-Wright, C. L., Tinker, S. W., Druschel, C., Hobbs, C. A., & … Sherman, S. L. (2007). The National Down Syndrome Project: Design and Implementation. Public Health Reports, 122(1), 62-72. VanMeter, K., Hubert, R. J., & Gould, B. E. (2014). Chapter 21: Congenital and Genetic Disorders. In Gould’s pathophysiology for the health professions (5th ed., pp. 569-582). St. Louis, MO: Elsevier/Saunders. Post from S* s* Sharon Simmons – Importance of Mutations in the Development of Breast Cancer Sharon Simmons posted Sep 3, 2017 3:11 PM Subscribe This page automatically marks posts as read as you scroll. Adjust automatic marking as read setting Importance of Mutations in the Development of Breast Cancer Skin cancer is the most commonly diagnosed cancer in women, with breast cancer being second. Each year approximately 200,000 women in the United States develop breast cancer, and one in nine American women will develop breast cancer in their lifetime. The incidence of hereditary breast cancer range between 5 to 10 percent to as many as 27 percent of all breast cancer (NIH. Human Genome Research Institute. 2014). Most breast cancer is through acquired DNA changes, rather than hereditary. DNA is the chemical in each of our cells that makes up our genes. Mutated DNA causes normal breast cells to become cancerous. Some of these mutations are acquired and some are hereditary. Genetic testing can identify some women who are at risk for hereditary breast cancer. Hereditary breast cancer is not just caused by the BRCA1 and BRCA2 genes that were originally identified, but scientist believe many genes are accountable for these breast cancers. It is thought that children of parents with a BRCA1 or BRCA2 mutation have a 50 percent chance of inheriting the gene mutation (NIH. Human Genome Research Institute. 2014). Lawrence Brody, PH.D., chief of the Genome Technology Branch and senior investigator of Molecular Pathogenesis Section at the Nation Human Genome Research Institute, reports that one of the main reasons cancer death rates have stayed the same is because scientist still don’t understand the molecular changes that turn a normal cell into a cancerous one. Dr. Brody’s laboratory was among the first to report that women that are positive for carrying mutations of the BRCA1 or BRCA2 gene have a much higher risk of developing breast and ovarian cancer, with a 50 to 80 percent increased risk of breast cancer over a lifetime (Mjoseth. March 15, 2012). This information has allowed Dr. Brody and other researchers to understand the risks that occur due to these genetic mutations. In addition, to an increased risk for breast and ovarian cancer the BRCA1 or BRCA2 gene mutation is found to cause an increased risk in colon, prostate, gastric, melanoma, and pancreatic cancers (Mehrgou and Akouchekian. May 15, 2016). Women and men alike, are benefiting from the understanding of genes and breast cancer and their correlation. It is allowing women and men to be tested early for the BRCA1 and BRCA2 genes, and other genes less commonly known such as PTEN or TP53 (American Cancer Society. August 18, 2016). This early knowledge allows patients to speak with a geneticist so they can make rational educated decisions, concerning prevention, early detection, and treatments that are specific to the individual type of cancer or gene mutation. The identification of the genetic changes and type of cancer allows for a proper prognosis to be given to patients (Mjoseth. March 15, 2012). Early and frequent breast cancer screenings should be performed in those that are positive for gene mutations. Often, prophylactic treatment such as mastectomies are performed, or the patient is started on tamoxifen. Tamoxifen has been found to reduce the risk of developing breast cancer by 50 percent. Other drugs are currently being studied to see if it is effective in preventing breast cancer (NIH. National Human Genome Research Institute. November 7, 2014). It is the duty of nurses to be educated as much as possible about different screening tests that are available and to be able to provide education to the patient and their families concerning early detection, prevention, and treatment. There is a wealth of information out there that is available in books, online sources, through brochures, and through various organizations such as the American Cancer Society, and specific breast cancer organizations. These resources should be readily available for any patients that seek questions or have concerns regarding breast cancer. This should be provided at community mobile mammography screenings and local events where booths could be set up to allows individuals to come by for information. References: AAON. (November 7, 2014). Specific Genetic Disorders. Learning About Breast Cancer. NIH. National Human Genome Research Institute. Online 9/2/2017. https://genome.gov/100/00507/learning-about-breast-cancer/ Mjoseth. (March 15, 2012). Researchers Examine Genomics for Breast Cancer Treatment. National Human Genome Research Institute. Online 9/2/2017. https://www.genome.gov/27546796/ AAON. (August 18, 2016). How Does Breast Cancer Form? Inherited Gene Changes. American Cancer Society. Online 9/2/2017. www://cancer.org/cancer/breast-cancer/about/how-does-breast-cancer-form.html Mehrgou and Akouchekian. (May 15, 2016). The Importance of BRCA1 and BRCA2 Gene Mutations in Breast Cancer Development. Medical Journal of the Islamic Republic of Iran https://ncbi.nlm.nih.gov/pmc/articls/PMC4972064/

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