Saturday, November 23, 2019
buy custom The Advances in DNA Technology essay
buy custom The Advances in DNA Technology essay Introduction: The study of geneticdiseasebegan longago. In thepastpeople that suffered geneticdiseasewere leftalone. Theywere despisedand often separated from the rest of the community. Genetic diseases are highlyunpredictable. Despite the fact that genetic diseaseshave been studiedin the past, the studies done have still not reached a bottom line on the symptoms and treatment of diseases. Researchers havetherefore, sunkdeepto study genetic diseases. The target of the study is to findpossibletreatment and modes of managing such conditions. Further studies have also been done on ways of handling people with genetic diseases. These studies areoftendone by medical practitioners especially nurses. They include forums and medical courses thatassistthem to understand and such patients and be able to help them together with their families. Genetic diseases: The human bodyis madeof cells. In each cell, there are significant structures called DNA (deoxyribonucleic acid). DNA occurs in small bits on a chromosome. The chromosomeis composedof DNA strands. Genes are then the segments of DNA thatare foundon the chromosome. These genescarrythecharacteristicof an individual. Every person has 23 pairs of chromosomes. In rare occasions, these genesgetdefects that result in genetic disorders and diseases. A genetic disease is anillnessthat comes as a result of defects in the human chromosomes or genes. It is usually caused byvariationor alteration (mutation) of a gene. The genetherefore, codes for a protein that forms acharacterof a person.The defective genes lead to the making proteins withpoorstability which is not, three dimensional.These are the folded proteins. These proteinsare eliminatedfrom thecellthat later result in to a disease due to impaired cellular function. In other cases, the cell may fail toeliminatethe defective proteins which ac cumulate and result in genetic disorders (Gendel 2000). These diseases are eitherhereditaryor environmental. These diseases come invariousways. Genetic disorders can result from an abnormal number of chromosomes. That is the chromosomes could be less or more than thenormalnumberwhich is 23 chromosomes in each cell e.g. Down syndrome. The chromosomes can alsoexpandorrepeatitself in the cell.This results in tomutationof chromosomes.The resulting chromosome isdefectiveand causes disorders e.g. Huntingtons disease. A person cangetgenetic disease by inheriting defective genes from his or her parents. One of the parents could have a defective gene which theypassto the child duringconceptionof pregnancy (Mehta2010). Most of these diseases are rare. They canhardbe found incommonsettings. However, cystic fibrosis is one of the most common genetic disorders. Technological advances in genetic diseases the existing demands on genetic patient care, researchers have found out ways through which they can detect genetic diseases. These tests can detect both the inherited and the non-inherited disorders. The tests candetectwhether a person is a carrier of the disease. Prenataltestcan also be done to detect whether the unborn child willcontracta genetic disorder or not. Genetictestinvolve theanalysisof body tissues, blood and body fluids to detect the presence offaultyDNA. These genes couldhave been lost, misplaced in the body cell, inactivated, or over expressed in the cell. DNA testing can be done by two ways: Using DNA probes.These are short strings that have complementary sequence to the gene muted in the cell. Thisprobeis injectedinto the patient. If it finds the mutated gene, it binds to it and can be detected. The genetypecan also be detected by comparing the sequences. The DNA sequence that is faultyis comparedto a normalsequencetodetectthe fault in the sequence. The key proteins in the cell of the patient can also be detected. Some of these defective proteinsproducemalfunctioned genes. There are more advanced technologies that have come up to detect genetic disorders. According to Gendel (2000), researchers have sought out atherapyused to detect and correct misfolded proteins. This therapy uses a molecule drug called Pharmacological chaperones. The molecule binds to themisfoldedprotein and makes its three dimensionalform. Once the protein has formed the three-dimensionalformit takes itspositionin thecelland performs its function. The method can be used for other conditions that are a result ofmisfoldedproteins. Reason for genetic testing There are several reasons as to why anindividualcan go for genetic testing. Genetic testing canhelpin the determination of whether anindividualhasdefectivegenes in his or her body. This is in the context of those that already have the defective genes, but have not shown any signs for genetic disorders. For instance, a person can be tested for breast cancer, or olon. Genetic testing can be used to determine if an individual is a carrier of the defective genes. Carriers do notgetto have symptoms of the disease. They do not get infected by the disease, but can pass thediseaseto their children. This is in the cases of individuals that have adiseasethat is rotating in the family. Prenatal testing also includes genetic tests in which the mother of the unborn childis screenedfor genetic disorders such as cystic fibrosis, Spina Bifida, and Down syndrome. This test eliminates the chances of the unborn child tocontractthe disease. Samples of amniotic fluidare takenfor analysis of the disease (Daar 2008) these advances in genetic studies have also influenced nursing practices. The nursesgettrainingto become professionals in taking care of patients suffering from genetic disorders. The roles of nurses havehencebeen increased. It is theroleif nurses to ensure that the patients suffering from genetic diseasemakethe right choices andundergothecorrecttreatment and counseling (Smith, Ladd, Pasquerella 93). The nurses roles have also changed in with the rise in technology. The nurses roles include: Access hereditary and nonhereditary disease. This includes theassessmentof presence of diseases in the individual. Takedetailedfamily history of thepatientthat could be suffering from genetic disorders.This will help in the prediction of dominant or recessive genes in the individual tested. Interpret laboratory results for genetic disorders. This is one of thecrucialroles that involveconclusionof laboratory investigations. From these results, the nurse canconcludediagnosis and treatment. Provide genetic counseling, and consultation for genetic health care. This is beneficial for patients that are undergoingstressfulmoments as they undergo treatment of these disorders. There was anexpectantwoman overwhelmed by the news of a having a potentially aneuploid fetus. The woman had a fetus that had to be tested of geneticdefectivediseaseusing amniocentesis.She also had to go through the test, todetermineherfateand that of her unborn child.She had to make the decision in a short time frame. This is because the test has to be done before the child has developedfully. This would help the doctors determine ways through which they can help the unborn child be born without the expected disease. This situation puts the patient in a stress mode. The patient undergoes atoughmoment as she tries to make decisions about her unborn child with limited finance. In addition, she did not have social support. Such patients oftenresulttocrisis. The patient finds themselves withanxietyandconfusion. In some cases, they have atendencyof forgetfulness. She also has to deal with thethoughtthat her pregnancy may notsurvive. If the babyis born, she may have tobearthe child with the fatal geneticillnessof Huntington disease. In such a situation, the nurses role is crucial. The nurse to whom theladyis attending should play herpartso as to assist the patient tomanagethe situation. The nurse cantakethe patient through counseling session so as tolowerthe negative pressure that the patient is undergoing. On such a situation the nurseshould: Build a relationship between the patient and herself. This willeasetheatmospherebetween them, and the patient will be able to open up. She or he should assess the condition of thepatientandmakeaplanon how the goalswill be accomplished. The nurse should collect information from thepatientthat can be used in the diagnosis and treatment of the disease. During this phase, the nurse shouldbreakdown thecrisistoidentifywith the situation of the patient.At leastexplorethesituationin every point from the patients perspective.This way it will be easy for the patient to set goals. Theactionphaseinvolves the collection ofdatanecessary for the plan set in the beginning phase. The nurse should bekeentoeliminateall hindrances that willjeopardizetheaccomplishmentof the goals. These hindrances include lack of finances and lack of social support. He or she should capitalize on the strong points that willencouragethe patient to go through the therapy. After settling these details, and the information obtained is sufficient, the implementation process can commence. Terminationphasethis is thephasein which the nurse takes time toreviewon the progress of the patient. He or she will countercheck theprogressof the patient against the goals they hadsetat the start of therapy. Once theprogressis satisfactory, the nurse can thenreleasethe patient and terminate the counseling sessions. In case the goals set in thebuildingphase have not been accomplished, then the goals are reset. The patientis observedfurther until he or she recovers from the crisis. The ccanceller is careful when ending the counseling session with patients on his or her feelings.The woman that had difficulty in the decision making about the Huntington disease testing, agreed to do the test. The following are points to consider while handling apatientwith indecision on genetic disease. Ensure aneutralatmosphere between the patient and the counselor. The counselor should not impose his or her personal values to the patient; rathertakethe patient step by step until they have realized the problem in their perspective. The counselor should bekeennot to usedirectivenesson the patient.The counselor should use non defectiveness which willcapture, attention of the patient.However, in some cases he or she can usedirectivenessin the interrogation process but with an apologetic tone (West Student 2002). Crisis management Much often than not peoplegetin to difficult situations.In such timesit ishardto decide on the way forward. A person mayoptto find a counselor to assist them in decision making. It is usuallybetterbeingin a position, to make a decision early than to wait for some time. The situation maygetdepressive to handle. According to France (2007), there are three faces that encircle crisis management. 1. Phase one: impact phase: this is the reaction of an individual towards a certainsituationthat he or she have encountered. In such aninstanceoften theimmediatesolutions employed will not have worked out thesituation. Therefore, it turns out to be a problem that weighs heavy on the person. Anindividualmay notacceptbeing in thesituationthat they have found themselves engaged in at that time. A person mayreachanextentasking of themselves why he or she have gotten in to the problem.There are three dimensions which people may respond to a situation. Internal- external: this category clouds the person who feels that he or she is thecauseof the problem he or she is facing. Such anindividualmay be clouded by low-self esteem. Stable-unstable: this reaction refers to the decisions that arepermanentor temporary. A person may respond to an impact by picking on a decision that islong-lastingwhile another person may choose aplanthat is notpermanent. This category reactsfasttogetsolutions that will solve the situation fast. Global-specific: global attributions involve perceiving similarities across morenarrowapplications. 2. Phase two: coping phase: when a person has gotten overwhelmed by a situation and the firstapproachhas not worked, the person tends tofinda secondary solution. This is the way forward to deal with the situation. If the situation is not changing with the solution employed in the first instance, the individual tends to find a way to eliminate the problem completely. 3. Phase three: withdrawal: this phase comes in when thesolutionused do not work as planned by the person in the situation. In this phase, the individual maydecideto withdraw from the situation. Hence in this instance, the person finds out ways of getting rid of thesituationwithout solving it. In the case, of people suffering from genetic diseasescrisismanagement can be applied. Most patients, who are diagnoses by the disease, oftengetdepressed. This is because of the fact that they have contracted a fatal diseasee.g. in the case of Huntingtons disease. Some may overcome thefearof contracting the disease. The patient who can afford medication tries to get treatment. In other cases, patients without financialsupportmay find it more difficult. If the challenges and barriers become overwhelming for the patient, he or she mayresolvetowithdrawal. The patient then chooses to give up fighting theillness. At this point, the patient survives without any drugs or patientcareas he or she waits forfate. In conclusion, genetic disorders are notpredictable. They can behereditaryor non hereditary. Most of these diseases arefatalandrenderanindividualhelpless. In some cases, they cause premature deaths. As a result, it isbeneficialfor patients suffering from genetic disorders, to undergo treatment andtherapy. On the other hand, for anindividualthat has had family members dying sequentially of a certain disease, shouldresolvefor genetic testing. This can help them know if they have adominantor recessive defective gene which they are passing to other generations. Expectant mothers should also consider genetic testing for the good of the unborn child and the family as a unit. Medical personnel also need to come up in large numbers to find ways of improving patient care in hospitals. These personnel play acrucialrole in the recovery of patients suffering from genetic diseases. They shouldimprovethe patient care service to assist patients with such disease, and their family memberstoo. Genetic counseling plays a significant role in the management of these diseases (Ethobey 2010).Hence it is a worth course in building better medical services geared towards a healthy people. Buy custom The Advances in DNA Technology essay
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