The study of genetic disease began long ago. In the past people that suffered genetic disease were left alone. They were despised and often separated from the rest of the community. Genetic diseases are highly unpredictable. Despite the fact that genetic diseases have been studied in the past, the studies done have still not reached a bottom line on the symptoms and treatment of diseases.
Researchers have therefore, sunk deep to study genetic diseases. The target of the study is to find possible treatment and modes of managing such conditions. Further studies have also been done on ways of handling people with genetic diseases. These studies are often done by medical practitioners especially nurses. They include forums and medical courses that assist them to understand and such patients and be able to help them together with their families.
The human body is made of cells. In each cell, there are significant structures called DNA (deoxyribonucleic acid). DNA occurs in small bits on a chromosome. The chromosome is composed of DNA strands. Genes are then the segments of DNA that are found on the chromosome. These genes carry the characteristic of an individual. Every person has 23 pairs of chromosomes. In rare occasions, these genes get defects that result in genetic disorders and diseases.
A genetic disease is an illness that comes as a result of defects in the human chromosomes or genes. It is usually caused by variation or alteration (mutation) of a gene. The gene therefore, codes for a protein that forms a character of a person. The defective genes lead to the making proteins with poor stability which is not, three dimensional. These are the folded proteins. These proteins are eliminated from the cell that later result in to a disease due to impaired cellular function. In other cases, the cell may fail to eliminate the defective proteins which accumulate and result in genetic disorders (Gendel 2000). These diseases are either hereditary or environmental. These diseases come in various ways.
•Genetic disorders can result from an abnormal number of chromosomes. That is the chromosomes could be less or more than the normal number which is 23 chromosomes in each cell e.g. Down syndrome.
• The chromosomes can also expand or repeat itself in the cell. This results in to mutation of chromosomes. The resulting chromosome is defective and causes disorders e.g. Huntington’s disease.
• A person can get genetic disease by inheriting defective genes from his or her parents. One of the parents could have a defective gene which they pass to the child during conception of pregnancy (Mehta 2010 ). Most of these diseases are rare. They can hard be found in common settings. 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 can detect whether a person is a carrier of the disease. Prenatal test can also be done to detect whether the unborn child will contract a genetic disorder or not. Genetic test involve the analysis of body tissues, blood and body fluids to detect the presence of faulty DNA. These genes could have 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. This probe is injected into the patient. If it finds the mutated gene, it binds to it and can be detected.
• The gene type can also be detected by comparing the sequences. The DNA sequence that is faulty is compared to a normal sequence to detect the fault in the sequence.
• The key proteins in the cell of the patient can also be detected. Some of these defective proteins produce malfunctioned genes.
There are more advanced technologies that have come up to detect genetic disorders. According to Gendel (2000), researchers have sought out a therapy used to detect and correct misfolded proteins. This therapy uses a molecule drug called Pharmacological chaperones. The molecule binds to the misfolded protein and makes its three dimensional form. Once the protein has formed the three-dimensional form it takes its position in the cell and performs its function. The method can be used for other conditions that are a result of misfolded proteins.
Reason for genetic testing
There are several reasons as to why an individual can go for genetic testing.
• Genetic testing can help in the determination of whether an individual has defective genes 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 colon.
• Genetic testing can be used to determine if an individual is a carrier of the defective genes. Carriers do not get to have symptoms of the disease. They do not get infected by the disease, but can pass the disease to their children.
This is in the cases of individuals that have a disease that is rotating in the family.
• Prenatal testing also includes genetic tests in which the mother of the unborn child is screened for genetic disorders such as cystic fibrosis, Spina Bifida, and Down syndrome. This test eliminates the chances of the unborn child to contract the disease. Samples of amniotic fluid are taken for analysis of the disease (Daar 2008)
these advances in genetic studies have also influenced nursing practices. The nurses get training to become professionals in taking care of patients suffering from genetic disorders. The roles of nurses have hence been increased. It is the role if nurses to ensure that the patients suffering from genetic disease make the right choices and undergo the correct treatment and counseling (Smith, Ladd, & Pasquerella 93).
The nurse’s roles have also changed in with the rise in technology. The nurse’s roles include:
• Access hereditary and nonhereditary disease. This includes the assessment of presence of diseases in the individual.
• Take detailed family history of the patient that 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 the crucial roles that involve conclusion of laboratory investigations. From these results, the nurse can conclude diagnosis and treatment.
• Provide genetic counseling, and consultation for genetic health care. This is beneficial for patients that are undergoing stressful moments as they undergo treatment of these disorders.
There was an expectant woman overwhelmed by the news of a having a potentially aneuploid fetus. The woman had a fetus that had to be tested of genetic defective disease using amniocentesis. She also had to go through the test, to determine her fate and 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 developed fully. 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 a tough moment as she tries to make decisions about her unborn child with limited finance. In addition, she did not have social support. Such patients often result to crisis. The patient finds themselves with anxiety and confusion. In some cases, they have a tendency of forgetfulness. She also has to deal with the thought that her pregnancy may not survive. If the baby is born, she may have to bear the child with the fatal genetic illness of Huntington disease.
In such a situation, the nurse’s role is crucial. The nurse to whom the lady is attending should play her part so as to assist the patient to manage the situation. The nurse can take the patient through counseling session so as to lower the negative pressure that the patient is undergoing. On such a situation the nurse should:
• Build a relationship between the patient and herself. This will ease the atmosphere between them, and the patient will be able to open up. She or he should assess the condition of the patient and make a plan on how the goals will be accomplished. The nurse should collect information from the patient that can be used in the diagnosis and treatment of the disease. During this phase, the nurse should break down the crisis to identify with the situation of the patient. At least explore the situation in every point from the patient’s perspective. This way it will be easy for the patient to set goals.
• The action phase involves the collection of data necessary for the plan set in the beginning phase. The nurse should be keen to eliminate all hindrances that will jeopardize the accomplishment of the goals. These hindrances include lack of finances and lack of social support. He or she should capitalize on the strong points that will encourage the patient to go through the therapy. After settling these details, and the information obtained is sufficient, the implementation process can commence.
• Termination phase this is the phase in which the nurse takes time to review on the progress of the patient. He or she will countercheck the progress of the patient against the goals they had set at the start of therapy. Once the progress is satisfactory, the nurse can then release the patient and terminate the counseling sessions. In case the goals set in the building phase have not been accomplished, then the goals are reset. The patient is observed further until he or she recovers from the crisis. The canceller 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 a patient with indecision on genetic disease.
• Ensure a neutral atmosphere between the patient and the counselor. The counselor should not impose his or her personal values to the patient; rather take the patient step by step until they have realized the problem in their perspective.
• The counselor should be keen not to use directiveness on the patient. The counselor should use non defectiveness which will capture, attention of the patient. However, in some cases he or she can use directiveness in the interrogation process but with an apologetic tone (West & Student 2002).
Much often than not people get in to difficult situations. In such times it is hard to decide on the way forward. A person may opt to find a counselor to assist them in decision making. It is usually better being in a position, to make a decision early than to wait for some time. The situation may get depressive 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 certain situation that he or she have encountered. In such an instance often the immediate solutions employed will not have worked out the situation. Therefore, it turns out to be a problem that weighs heavy on the person. An individual may not accept being in the situation that they have found themselves engaged in at that time. A person may reach an extent asking 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 the cause of the problem he or she is facing. Such an individual may be clouded by low-self esteem.
• Stable-unstable: this reaction refers to the decisions that are permanent or temporary. A person may respond to an impact by picking on a decision that is long-lasting while another person may choose a plan that is not permanent. This category reacts fast to get solutions that will solve the situation fast.
• Global-specific: global attributions involve perceiving similarities across more narrow applications.
2. Phase two: coping phase: when a person has gotten overwhelmed by a situation and the first approach has not worked, the person tends to find a 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 the solution used do not work as planned by the person in the situation. In this phase, the individual may decide to withdraw from the situation. Hence in this instance, the person finds out ways of getting rid of the situation without solving it.
In the case, of people suffering from genetic diseases crisis management can be applied. Most patients, who are diagnoses by the disease, often get depressed. This is because of the fact that they have contracted a fatal disease e.g. in the case of Huntington’s disease. Some may overcome the fear of contracting the disease. The patient who can afford medication tries to get treatment. In other cases, patients without financial support may find it more difficult. If the challenges and barriers become overwhelming for the patient, he or she may resolve to withdrawal. The patient then chooses to give up fighting the illness. At this point, the patient survives without any drugs or patient care as he or she waits for fate.
In conclusion, genetic disorders are not predictable. They can be hereditary or non hereditary. Most of these diseases are fatal and render an individual helpless. In some cases, they cause premature deaths. As a result, it is beneficial for patients suffering from genetic disorders, to undergo treatment and therapy. On the other hand, for an individual that has had family members dying sequentially of a certain disease, should resolve for genetic testing. This can help them know if they have a dominant or 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 a crucial role in the recovery of patients suffering from genetic diseases. They should improve the patient care service to assist patients with such disease, and their family members too. 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.