Human characteristics are the result of thousands of strands of genetic material known as DNA (Boskey, 2008). These strands are made up of unique combinations of protein and define the specific characteristics that define an individual. It can be said that the language spoken by genes tells a story of the uniqueness of every individual. They define why one sibling has red hair and another has blonde hair; why you are average height while your parents are both considered below average height (Boskey, 2008). A gene or strand is an instruction that is used in the composition of a cell, then an organ, and eventually a human being.
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Genetic testing refers to the process of collecting and assessing genetic material from people. This process has been practiced in various industries for many years. For example in the insurance industry genetic testing has been used for underwriting purposes for almost 100 years (Betta, 2006). Even today in Australia insurers ask potential clients questions aimed at identifying whether close relatives have succumbed to diseases that indicate a strong familial link. This information is used in the determination of monthly deposits for life insurance policies.
It has been observed that of the single, multiple sessile, and pedunculated polypoid colon tumors, Familial adenomatous polyposis is the most common. (Swearingen, 2003). This is of practical significance as these polyps tend to become malignant. Familial adenomatous polyposis is characterized by but distinct from a condition of frequent colon polyp formation.
In this disorder, the glandular epithelia of the colon or the rectum undergo excessive proliferation throughout the mucous membranes, which leads to the formation of pedunculated or sessile polyps (Swearingen, 2003). The polyps are by nature soft and red or purplish and vary in size from a few millimeters to several centimeters. They may also range in number from a few to several thousand. They are also found anywhere along the entire length of the colon but the rectum is almost always affected. Each individual with untreated familial adenomatous polyposis will develop cancer at some point in time caused when one or more of these polyps experiences malignant degeneration (Swearingen, 2003). The disease is hereditary and is passed via an autosomal dominant trait. The disease appears commonly after puberty to the late ’30s and has an incidence of 1 in almost 8,300 births (Swearingen, 2003).
The role of familial adenomatous polyposis in the appearance of cancer in an individual is one instance where genetic testing has progressed significantly in the recent past (Givel & Mortensen, 2009). This disorder is characterized by the development of hundreds of thousands of adenomatous polyps in the colon and rectum early in life. It is reported that most carriers develop polyps around puberty and develop to cancer around middle age except where prophylactic colectomy has been performed (Givel & Mortensen, 2009).
Thanks to the role of research and modern technology those at risk of exposure to the disease have benefited immensely. This comes in the form of greater clinical awareness and more predictive genetic testing. The majority of cases detected early can thus undergo prophylactic colectomy (Givel & Mortensen, 2009). Familial Adenomatous Polyposis (FAP) is the first cancerous disorder for which the causative gene was identified (Zbar & Wexner, 2010).
This disorder (FAP) is the result of gene mutation adenomatous polyposis coli gene and in a few instances mutation of the MYH gene (Hay, 2011). The disorder is hereditary by nature. The disease is known to affect 1 in almost 10,000 people with as high as 100% penetrance (Zbar & Wexner, 2010). As mentioned before it is characterized by a large number of polyps between puberty and middle age. It is possible to want to know why this testing is important. This is because colon cancer is the second leading cause of death where cancer is concerned (Passarge, 2007). In addition to that, it is reported that colorectal polyps affect as many as 25% of individuals aged 75 years and above. This position, therefore, suggests that if through genetic testing this serious disease can be discovered and potential patient’s lives can be saved leaving individuals to live more complete and satisfactory lives. In addition to that, the large amounts of money that would otherwise be spent on treatment can be averted.
Betta, M. (2006). The Moral, Social and Commercial Imperatives of Genetic Testing and Screening: The Australian Case. Dordrecht: Springer.
Boskey, E. (2008). America Debates Genetic DNA Testing. New York: Rosen Publishing Group.
Givel, J. C., & Mortensen, N. J. (2009). Anorectal and Colonic Diseases: A Practical Guide to Their Management. Leipzig: Springer.
Hay, D. W. (2011). The Little Black Book of Gastroenterology. Sudbury, MA: Jones & Bartlett Learning.
Passarge, E. (2007). Color Atlas of Genetics. Stuttgart: Georg Thieme Verlag KG.
Swearingen, P. L. (2003). Manual of Medical surgical Nursing Care. Missouri: Elsevier Mosby.
Zbar, A. P., & Wexner, S. D. (2010). Coloproctology. London: Springer.