Genetics: Various Scenarios - Essay Example

? Scenerios Scenario One In the scenario, Myra is concerned about her children’s chances of getting breast cancer as both she and her mother had beendiagnosed with the cancer, with her mother dying young, while Myra herself had undergone chemotherapy. Although, most breast cancers occur sporadically and are not inherited, a small proportion is passed on through families. Generally, if there is a heritable factor, then the cancer will occur earlier in life than a sporadic condition. However, it is important to note that people do not inherit breast cancer, but rather an increased likelihood of having the disease . Around 20 – 30% of women who have breast cancer have the disease occurring within their family, however there are also many environmental risk factors, such as use of alcohol or exposure to radiation . Myra was diagnosed with cancer at the age of 48, indicating that it is likely that her cancer was sporadic rather than inherited, however this does not rule out the possibility of the cancer being heritable. In contrast, her mother died from cancer at a ‘young’ age, which suggests the possibility that this was an inherited susceptibility. The fact that there is a chance that the susceptibility may have been inherited means that I would have raised the possibility of a referral with Myra on the basis of her family history alone. The presence of a defective gene, which can be passed from parent to child, results in the child having up to an 80% probability of getting cancer at some point in their lifetime . There are many benefits to genetic counselling, including an increased understanding of whether the disease is inherited and what the chances that offspring will inherit it are . Many different things are inherited genetically; a child may inherit his mother’s blue eyes, or his father’s nose shape as well as the susceptibility to a particular disease that is present on his father’s side of the family. The process of meiosis involves random assortment, and this means that which chromosomes the child receives from its parent is random. Furthermore, there is a process of recombination, which results in parts of different chromosomes being moved around. However, genes that are present on the same chromosome do still have an increased chance of remaining together. Many people consider that a child is ‘more like his mother’ or ‘more like his father’ based on their physical appearance. However, while this is a common belief it is not true, children inherit approximately half of their DNA from their mother and half from their father (only approximately due to the presence of maternally inherited mitochondrial DNA) . Consequently, while the gene for breast cancer susceptibility (such as BRCA1 or BRCA2) may have an increased likelihood of being inherited with a feature of appearance such as hair colour, there is no basis for believing that a child has an increased likelihood to inherit susceptibility because of the presence of particular physical characteristics. Individuals have a wide range of beliefs about the origins of disease, many of which do not agree with the known scientific basis. These beliefs are based on factors such as prejudice, tradition and ignorance of the scientific basis for inheritance. Some factors that are often considered to be causative of disease include education, economic class, and weight . Consequently, Myra attributing the similarity in physical characteristics to a similarity in disease susceptibility does not have strong scientific basis, however, matches trends that are seen in the population, especially among lay people. Scenario Two Being able to work with colleagues and patients who have different cultural beliefs is an important part of nursing, especially in modern society. It is not enough to promote our own, predominantly Westernised, views on the rest of the world without considering their viewpoints and different expectations . In recent years, there has been a trend towards increasing cultural awareness and the development of cultural competence skills that help staff members to work with and learn how to understand the cultural differences in other people . Cultural competency is the act of becoming more educated about people of other cultures and learning how to communicate with them and to understand their points of view and expectations. It is a reform on multiple levels, involving increased education into cultural differences as well as getting students to understand and examine scenarios where cultural beliefs may differ. It also involves an active change on the part of the staff, requiring them to be more active at detecting cultural differences and working with other cultures. The expectation is that as cultural competence increases, the prevalence of racism and racially based practices should decrease . My own culture could be described as Westernized and Christian. I am pro-life and believe that every person has the right to live and make their own life regardless of any abnormalities that might be present . I believe the best of people and I consider honesty and compassion to be two very important qualities. When dealing with people I would tend to not mention factors that make us different, but instead focus on those that are similar between us. Many cultures do not share my religious perspective, and most believe that abortion is a good decision under certain circumstances, while I do not. When dealing with a colleague that was exhibiting significant racism I would attempt to be calm and rational wherever possible. I believe that my most important aim is the health of the patient if there was one involved. My secondary aim would be to try and understand what was driving my colleagues beliefs, and to help them to understand that what they are feeling is an emotional reaction, rather than an informed one. Furthermore, racism does not promote healthy relationships with patients, and can impede the judgement of staff in making medical decisions. If talking was not successful, I would recommend that they obtain some information about cultural competence and its importance in the health care profession. The United Kingdom consists of approximately 92% white individuals, while the remaining 8% is made up of different ethnic minority groups. The ethnic groups that are present are mixed and difficult to define because of varying differences and the sensitivity of the topic . However, some ethnic groups that are present are mixed race, Pakistani, Indian, Chinese, non-Chinese Asian, Black African. Ethnicity is an important factor in medical treatment, as people from different backgrounds often need different treatment or a susceptible to different types of diseases. One reason that different cultural groups have different medical needs is that many are from a lower socioeconomic class, and have less access to food and general medical resources. There are a wide range of support groups across the United Kingdom for minority ethnic groups and these differ depending on the specific local area. Scenario Three For all involved this is a difficult situation, however, a nurse is required to consider the rights of an individual patient or couple over that of the human population or gene pool as a whole. It is the right of a couple to determine whether they want to have children, even if there is a risk of genetic abnormality, and not the right of anyone else. Consequently, in this scenario, the rights of Joanne and Colin are paramount, and they should receive all the information and support that they require in making their decision. Henry’s viewpoint is similar to that of eugenics, the idea that only those with good genes should have the chance to reproduce, and those that do not should be sterilized to prevent the genes increasing in prevalence in the population. While this view has certain scientific basis, it is not something that is considered humane to be practiced with humans. Ultimately, no one has the right to make the decision for Joanne and Colin, although it is important that they are made aware of the difficulties that may be face with the decisions that are before them. Genetic tests are commonly used to determine the probability that a child will have a certain disorder, and additionally to test whether an unborn child will exhibit that disorder. It is a well-established medical practice to use genetic testing to determine whether to try for children, or whether to carry a conceived child to term. Although it is something that I personally do not agree with ethically, it is considered to be ethical from a medical perspective, and thus I would support my clients in this decision. Informed consent is an important concept in nursing and it involves the patient being fully aware of the benefits and risks of a medical procedure, test or treatment prior to consenting to it. Patients will sign a form indicating that they are fully informed and consent to the proposed action . The role of a nurse is to provide the patient with any information that they require making this decision, as well as locations to find out this information for themselves. There are many different online sources for information about genetics. For information on specific conditions one of the most useful sites is Genetics Home Reference . This website is reliable, and published by the United States National Library. It contains a substantial amount of information that is frequently updated. One component of this site is the handbook , this section provides basic information about genetics, the way in which the different components act and interact and their relevance. This is useful for people with learning difficulties as the concepts are presented in a simple manner. Another useful online resource is the ‘Making Sense of Your Genes’ guide which is aimed at helping patients to understand genetic counselling, the roles that it plays and what affects a person’s genes can have on them . Finally, an online resource that is particularly useful for people who have problems learning is the medical library association website, which is focused on interpreting medical terminol ogy so that it is easy to understand for people with no medical background. Furthermore, many of these are available in plain language, which is designed for those with low literacy . When informing clients of their test results it is important to be aware of their possible reactions and emotions. For some people receiving the results of tests can be overwhelming, particularly if the results have negative impacts. Many people can have difficulties understanding probability, and it is important to make sure that clients understand what their results mean and that they understand all the associated facts. Scenario Four Down syndrome is a relatively common condition that is present in approximately one out of every 740 newborns. Although the syndrome is generally associated with older women, it can occur regardless of the age of the woman with the probability increasing as the woman ages . Because of this, if there are no prevailing conditions, such as chromosomal translocation, there is a relatively low likelihood that a young woman would conceive two children who have Down syndrome in a row. Consequently, in the scenario, translocation is not the only potential cause of Judy conceiving a child with Down syndrome. I would be confident at explaining this information to the patient, and would make sure to inform her of all the possible causes of this occurring. Further examination of the family and the pattern of Down syndrome would be necessary to determine whether Judy’s conception was the result of a random event, or as a consequence of her balanced translocation. If translocation was the main driver of the Down syndrome in Judy’s baby, genetic testing would be able to determine the likelihood of this occurring in the future. There are many different ways in which genetic diseases are inherited, some of which can be easily traced through generations of a family, while others are more difficult. One of the first factors that is relevant in determining the inheritance pattern of a particular genetic disorder is what the disorder is. Some are exclusively inherited genetically, others can be caused by genetic and environmental conditions, and some are solely caused by environmental factors. The next step is to examine the family history of the family, looking at first, second and third degree relatives . This can help to elucidate the way in which the disease is inherited. Some types of disease require testing to determine whether they are genetically inherited, while many can be found through examination of family history and an understanding of the associated genetics, in which case I would be able to help. Other cases it would be necessary to refer the person to genetic counselling. The autosomal dominant inheritance type refers to disorders where the affected gene is on a non-sex (autosomal) chromosome and individuals only need one copy of the gene in order to exhibit the physical characteristics of the disorder. Under this pattern of inheritance, the parent who the child inherited the affected gene from will also have the disease. Huntington disease is a dominantly inherited disorder that is caused by an alteration in the HTT gene which increases the size of the CAG repeat present within the gene sequence . Other disorders that are inherited in this way are Neurofibromatosis Type I and Polycystic kidney disease. For a couple who both exhibit the same autosomal dominant disorder, there is a chance that one of their children will inherit two copies of the affected gene and have no normal version of the gene. If both parents have one copy of the affected gene (G) and one unaffected (g), then there is a 25% chance of having a child that is unaffected (gg), 50% chance of having a child who has one copy of the affected gene (Gg) and 25% chance of having a child with two affected copies (GG). In some cases, having two copies of the affected gene may result in more severe presentation of the gene . For an autosomal recessive disease, the individual must have two copies of the affected gene (one from each parent) to express it. Because this an individual needs only one copy of the gene to have normal function, it is possible that neither parent will show the disorder while the child does. For example, two parents who each have one normal copy of the gene and one affected (Hh) will not show the condition. Half of their children will also be carriers of the gene but not express it (Hh), 25% will not have the affected gene (HH) and 25% will show the disorder . Common diseases that show this inheritance pattern are sickle cell anaemia, cystic fibrosis and Tay-Sachs disease. Scenario Five There are many issues surrounding the use of genetic tests and although they offer many benefits, there are also strong effects of the information not only on the person being tested, but for their family, people they know and potentially for insurers and employers . When a person finds out that they or their children have a genetic disorder that is hereditary, there are many implications for their family. In the scenario, knowledge of the potential for other family members to have the mutation is causing considerable stress and concern, with some family members pressuring others to be tested and to find out whether they carry the mutation. Yet, hiding the information from the family can be equally damaging, preventing them from determining their own risks, and from having prenatal genetic testing. For some people, knowing that they are at risk of getting a particular disease is important, as it can influence the way that they live their life and the decisions that they make. A person who is at risk for heart disease may choose to minimise the factors that contribute to heart disease such as smoking or high cholesterol. Another important implication of the knowledge, is that if one person is aware of their mutation, then genetic testing is available for other family members . Without this disclosure, many family members cannot get genetic testing, and may not be aware that they, or their children, are at risk for a genetic disease. One of the most prevalent genetic tests is for BRCA1, one of two genes associated with breast cancer susceptibility that is inherited. People who have a family history of breast cancer may have a chance of inherited this mutated gene. Inheritance of the gene does not mean that the person will have breast cancer later in life, but that it is a higher chance than without the gene. There is substantial psychological distress that is associated with the prevalence of this gene in families. A study examining a group of high risk individuals found that 58% of the study participatants were interested in finding out whether they had the affected BRCA1 gene, while 42% declined to . This indicates a high degree of individual emotions and decisions involved in the process. Knowing one’s own genetic risks and genes can help a person to determine whether they want to have children. Genetic screening is now frequently used to determine whether the foetus is healthy genetically, and to give the woman the choice of aborting the child if a disorder is identified. One of the risks that is associated with genetic screening is that as a society we are becoming less accepting of abnormalities, choosing to abort foetuses on social grounds rather than medical . Genetic testing for children and adolescents is often a difficult situation. Parents being aware of the genetic status of the child may not be in the child’s best interest, as it can damage the relationship between parent and child, as well as change the way that the adult acts towards the child. In this situation, it may be best for the needs of the child to be considered above that of the parent, even though the parent has legal autonomy . This may require a revision of current laws as genetic testing becomes more prevalent. Scenario Six When referring a family or client to genetic services there are a number of aspects to take into consideration. It is first important to determine whether the disorder is likely to be genetic. Considering family history is an important aspect of this. Some disorders are predominantly inherited through families such as cystic fibrosis while others are mostly environmentally based. Additionally, many diseases such as cancers, asthma and diabetes are caused by a combination of genes and the environment. As a consequence, primary care providers need to be aware of the contributions that genes play to various disorders . If possible, obtaining a family history to the third generation can be a helpful tool in determining whether a condition is genetic . This information, combined with information about the specific disorder, where available, can help to determine whether there is a genetic pattern of inheritance. Another aspect of genetic referral is the effect on the client and family. In some cases, finding out that there is a heritable disease, or susceptibility to disease within the family can be emotionally traumatic to some family members, while being helpful to others. It is important, wherever possible to talk to the client about the effect that this information will have, not just for themselves, but also for their entire family, including any children that they or other family members may have in the future. Clients need to understand the benefits that genetic counselling does, and does not give. For example, finding out that there is a gene for breast cancer in the family does not mean that all family members that test positive for this mutated gene will eventually have cancer . However, it does indicate that people who test positively for this gene may benefit from increased vigilance, to catch the disease early if it does arise . The best option if one is unsure whether genetic referral is the right action, is to seek advice for an external source of information. Where possible, talking to an expert in the area may be most effective, but other options involve looking online at reputable sites, and looking for recent peer-reviewed publications. In most cases, genetic counselling is worthwhile as it benefits a large number of people and as such is not a waste of the investigators time. The methods that are used to make a referral vary depending on the primary care facility and the area. Local resources play a significant role, and referrals can be through primary care, secondary care or regional genetics resources. Scenario Seven Williams syndrome is a disorder that occurs during development and affects many different body areas. The disorder arises from a deletion on chromosome seven . People that have the disorder can be interactive, achieving well in tasks that involve auditory signals, such as spoken language and music, and can learn well through repetition. Anxiety, phobias and attention deficit disorder (ADD) are common in people with Williams syndrome . It can sometimes be difficult to tell that someone is suffering from Williams syndrome, as they are socially interactive, appear to have a strong command of language and are friendly . However, the do suffer from mental retardation and learning disorders . One important aspect of this syndrome is that individuals possess an unusual sensitivity to sound and are often aware of sounds earlier than others in the same environment, and avoid or find discomfort in many sounds that are not normally avoided . An effective nursing plan for Darren would involve placing him in an area where there is less noise so that he is less disturbed or distracted by the sounds. Because of his condition, he enjoys social contact, so it is important that staff members interact with him whenever possible. Williams syndrome is associated with limited mental capabilities, but this is often masked by the fact that individuals with the disorder are very sociable. Consequently, it is important that things are explained to Darren multiple times, and that staff make sure that he understands what is occurring. It is often difficult for children with Williams syndrome to be involved in relationships with other children . Because of this, staff should work to facilitate Darren in his interactions with other children where possible. Works Cited Read More