...Hi Krisherm, Thank you for well-explained post on genetic counseling. With the question you have raised for us on genetic counseling, it has given me the chance to research and learn about genetic education and the implications to our physical therapy profession. Krisherm, I apologized in advance for my different take on genetic counseling, which discusses not so much on prenatal screens but more so on human genetics. I realized that I was researching more on generalized screening per se. To answer your question: [What are your thoughts on genetic counseling? Should we impart our professional beliefs and personal values when our patients ask us regarding this subject?] The advances of human genetics can pose affirmation of therapeutic benefits in the fields of medicine. Goldberg (2005) contended The Human Genome Project [HGP] flourished in 1995 was initiated with goals of sequencing and mapping of human genome by year 2005. It proceeded to let patients (suffering from genetic condition like cancer), set hope of being able to identify the genes that predisposes to tumor formation. One such example is the BRCA1 influencing susceptibility to breast and ovarian...
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...Kurinczuck et al. (2010) relating the paper of Moore et al. in 2003, discussed that there are four distinct type of congenital anomalies or birth defects. Firstly, birth defect can be caused by malformation which results from abnormal developmental processes of the egg and sperm, or during fertilization. Some of the examples of this are Down syndrome or having an extra chromosome number 21, and campomelic syndrome, a single gene defect. Secondly, birth defect can be caused by disruptions wherein there is interference with an originally normal development process. It can also be caused by terratogens such as drugs (eg. alcohol, thalidomide, and warfarin), chemicals (eg. polychlorinated biphenyls (PCBs), viruses (eg. cytomegalovirus, and rubella), and ionizing radiation (eg. X-rays). Thirdly, birth defect can be caused by deformation of a body part as a result from mechanical forces. An example of deformation is clubfoot in twins because of crowded uterine space (Kurinczuck et al., 2010). Lastly, birth defect can be caused by dysplasia or the abnormality of cell organization into tissue. The causes of dysplasia are generally not definite and consequently often affect several organs simultaneously. Congenital anomaly has a worldwide incidence of 3-4% (Hobbs, et al, 2002). In spite of the incidence of congenital anomalies, the underlying causes for most, remain unclear. It has been estimated that approximately 15%-25% are due to recognized genetic conditions (chromosome and single...
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...Genetic testing is a scientific process in which an individual’s DNA can be screened for mutations or variations that may cause certain diseases or dysfunctions. It is my opinion that standard genetic testing for disease or the predisposition to disease is purely beneficial. Having clear answers as to whether or not a person may carry a higher risk for some diseases may in fact save their life, or the lives of their current or future children. However, over the years of development of the science, more and more controversial types of testing have developed. In this paper, the science of genetic testing will be introduced by going through a brief history, the different types of genetic testing available, as well as the controversies that surround them. History Genetic testing had a very positive and productive start. The first usage of Genetic Testing occurred over half a century ago, beginning with the testing of infants for PKU, or Phenylketonuria, “an inborn error of metabolism in which an amino acid buildup in the blood causes mental retardation.” (Lewis) To test infants, a drop of blood was taken from their heel while at the hospital after birth. If a child was found positive for PKU, dietary treatment was used to prevent loss of brain function. Testing was reliable and results were accurate. The disease being tested for was easily treatable, and every child that came through was tested without a problem. (Lewis) In the 1970’s, doctors began the process of testing...
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...Huntington Disease Rachelle Jelosek Idaho State University Jackson is a healthy twenty-seven year old male who recently presented to his doctors office inquiring about genetic testing. Jackson recently married, and his wife Alisha is anxious to start a family. Unfortunately Jackson does not share Alisha's enthusiasm because he fears that he is a carrier of a deadly genetic mutation. Just five years ago Jackson's mother was diagnosed with Huntington's Disease at the age of 43 and Jackson's grandmother succumbed to the disease at the age of 68. Jackson is an only child and although unconfirmed and heavily denied by his family Jackson is convinced that his mother discovered her ill fate shortly after he was born. Jackson's wife and father do not want him to be tested for the disorder because they fear a positive diagnosis will destroy any life he has now and in the future . Jackson has endured years of watching his loved ones suffer and does not want to pass the disorder on to his children. The purpose of this paper is to define and describe Huntington's disease (HD), explain inheritance patterns, describe the specific gene mutation seen in patients with HD, discuss reproductive issue and outline the ethical and social implications associated with genetic testing. Huntington's disease was named after Dr. George Huntington, who is credited for discovering the hereditary disorder in 1872(Huntington’s Disease Society of America, 2008). HD progressively destroys neurons...
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...inward voyage discovery of human kind rather outward exploration of the planets. Clinical research involving human beings have greater potential for risk of misusing the technology. Potential for misusing the genetic research and fear of unknown long term effects on the successive generations have sparked bioethics debates. Like abortion, gene mapping is a very controversial subject and both sides have strong views. For example, should a woman abort the pregnancy based on the abnormal genetic screening results? Genetic technology provides an enormous power within our grips and with this enormous power comes following the ethical standards. Ethical standards should be followed involving human subjects. Genetic screening standards should align with four ethical principles of: • Respect for the human autonomy, dignity, and obtaining informed consent • Genetic screening should cause the minimal amount of harm to the subject • Provides maximum benefit to the subject • Genetic screening should be available to all the patients of a certain population considered high risk for a certain disease or condition Purpose of this paper is to discuss the correlation between genetic screening, four ethical principles, and possibility of integrating ethical principles into universal genetic screening standards. Discussing the gene screening is like...
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...Even iPhone emojis have realized that families are now not only considered a male, female, and a blood-related child. For example, lesbian and gay couples are now able to have children by using a surrogate. Or a woman could conceive a child by using the sperm of her dead husband. Some children may even have three mothers, a genetic mother, a gestational mother and a rearing mother. Those who never thought they could have children are now able to do so. While some procedures may seem unethical, overall people are able to have children and families, and to me that is a...
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...Q. How were technology, economics and the environment involved in the movie? Give an example of how technology, economics and environment were involved short and long term. A. In the movie Lorenzo’s Oil the technology, economics had a great impact In Lorenzo’s life. The short term effects for technology for Lorenzo consisted of the tests that had to take place such as, blood tests, MRI’S, and brain scans to conclude his genetic disorder. Furthermore the short term effects would soon result into long term for technology because of his genetic disorder (ALD) that would be with him for the rest of his life. The long term effect for economics would consist over the fact that Lorenz’s family would result in going into debt do to all the medical attention Lorenzo needed. The debt would over take the family and take much time to over come and be paid off. It would first start with a short term because the family would be finding a method to try and help their young son to live. The environment for a short term effect would be the hospital, because this is where he would go for medical attention and help. In addition school would also be a short term environment because Lorenzo would attend until he would start to develop symptoms and impact him in his daily life. The Long term effect for environment would be where he spent the majority of his time besides being at the hospital. His house, where he was raised, had story time and felt safe. Q.What concepts have wee talked about...
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...Breast Cancer… Is Genetic Screening the Answer? By: Wendy Wilburn Biology 2020 – Biology II Dr. Robinson April 25, 2015 The Great Genetic Screening Debate ABSTRACT Within the past thirty years, researchers have found strong evidence that our DNA or genetic material may be a predictive factor for disease probability. This has lead to the development of genetic testing after the isolation of certain candidate genes. Although predictive genetic screening is only available for a selective number of diseases, its ramifications have become hot topics for debated issues in a broad range of arenas from governmental agencies to religious applications. (1). This debate began in 1993 when researchers isolated the BRCA1 gene, which is associated with the increased risk of developing breast cancer (1). The discovery of this gene leads to hope and speculation for development of a predictive genetic test that could identify women at risk for developing breast cancer. The purpose of my paper is to delve into the positives and negatives of predictive genetic testing, as it is applied to breast cancer precursors. INTRODUCTION Before I go into details about how these genetic tests were developed, I want to first discuss how certain genes can trigger an inactive disease. The human body requires the actions of many proteins working together. For a protein to work properly, an intact gene must be encoded for a specific protein. A mutation describes a gene which has genetically...
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...Abigail Gardener Physiology December 3, 2014 Physiology Paper on Gender Dysphoria Gender identity disorder (GID) or gender dysphoria is the formal diagnosis used by psychologists and physicians to describe people who experience significant discontent with the sex they were assigned at birth and/or the gender roles associated with that sex. Evidence suggests that people who identify with a gender different from the one they were assigned at birth may do so not just due to psychological or behavioral causes, but also biological ones related to their genetics, the makeup of their brains, or prenatal exposure to hormones. Gender identity disorder is classified as a medical disorder called gender dysphoria. Many transgender people and researchers support declassification of GID because they say the diagnosis pathologies gender variance, reinforces the binary model of gender and can result in reprehension of transgender individuals. The official classification of gender dysphoria as a disorder may help resolve some of these issues, because the term "gender dysphoria" applies only to the discontent experienced by some persons resulting from gender identity issues. The current medical approach to treatment for persons diagnosed with gender identity disorder is to support the individual in physically modifying the body to better match the psychological gender identity. This approach is based on the concept that their experience is based in a medical problem correctable by...
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...Marfan Syndrome: A Brief Overview Abstract This paper will discuss the etiology and pathology of Marfan syndrome. It will also explore the signs and symptoms of the genetic disorder. Finally, it will discuss some of the available treatments, quality of life and prognosis of some one affected by Marfan syndrome. Marfan Syndrome: A Brief Overview Marfan syndrome was first described in 1896 by a French pediatrician by the name of Antoine Marfan (1858-1942). Marfan syndrome is a genetic disorder that affects the connective tissue in the body. The three main body systems that Marfan syndrome attacks are they eyes, bones and muscles, and the cardiovascular system. Marfan syndrome is also known as arachnodactyly in Greek and translates to “spider-like fingers” because of the elongated bones in the hands and fingers. Marfan syndrome is caused by a mutation on chromosome 15 that affects the production of fibrillin. Fibrillin is a protein that is responsible for allowing tissues to stretch repeatedly with out weakening. With this fibrillin defect, people with Marfan syndrome have hypermobility in their joints causing them to become weak and very loose. Another characteristic of Marfan syndrome is that some patients have excessively long limbs with an arm span greater than their height. The external affects of Marfan syndrome very greatly even with patients in the same family. The severity of Marfan syndrome is different from person to person. According to Rebecca J. Frey’s...
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...Personal Philosophy Paper Sara Hammel University of Georgia Counseling Theory Theorist who have Influenced Personal Theoretical Orientation As a therapist’s experience base grows, I believe a person’s theoretical orientation will narrow, but will also continue to evolve. The core belief system that a therapist begins with is still there, but the platform that a therapist connects most with eventually becomes a therapist’s model. I am aware that my current orientation is rather eclectic in nature. I find a basic connection with Freud and agree that we do have instincts that are innate to every human (Corey, 2013), in essence we are all animals (Freud, 1961) of sorts. Adler was correct when he expounded on Freud’s work and introduced the idea that we are not solely shaped by our childhood experiences. Frankl, May, and Yalom have led me to the idea that there is no step by step instructional book on how to counsel clients. My experience in the military working with a multitude of different people of various religions, ethnicities, and languages has led to my acknowledgement that we are all different and are motivated and driven by many different things. Each person is different; this is what makes us special. No single solution is perfect for any two people, and there are always different variables involved with each person. Also incorporated into my view of human nature is Perls’s concept that places emphasis on what is being experienced in the here and now as being...
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...Genetic and Reproductive Sciences Abstract This paper is based on genetic and reproductive science and their benefits and limitations regarding individuals, families, and society. The paper covers the screening and treatment for diabetes and what methods are used to prevent it development. The paper also contains information regarding In Vitro Fertilization (IVF) and its benefits for individuals and families. The use stems cells and its advantages and disadvantages are also mentioned. Analyze the benefits and limitations of genetic and reproductive sciences for individuals, families, and society. The benefit of genetic science for individuals is that it can determine if the person has a possible genetic disorder and give them a better chance at preventing the disorder from becoming active, monitor the disorder, or treat the disorder. For example, diabetes is a genetic disorder that can be discovered through genetic testing. Lifestyle changes such as exercising and lowering their body mass index (BMI) can prevent someone for developing diabetes, and the testing can monitor diabetes if a person develops it. Diabetes can also be treated by the use of insulin and dieting if monitored correctly. The limitation of genetic science for individuals is the emotional outcome of the test results. Some people may get upset and begin to feel guilty, depressed, or even become anxious once they receive their results (Cho, et al., 2012). The benefits of genetic science...
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...a disease in this last paper. I have to say I totally disagree with the American Medical Association that in 1956 decided that alcoholism is a disease. I feel alcoholism is not a disease with invasive pathology, nor do I believe that it is a disease of genetics gone awry. Alcoholism has nothing to do with irresistible impulses or uncontrollable urges. Alcoholism is a disease of volition in my opinion. In this paper I will discuss why some people feel this is a disease, and why some people feel this is not a disease, but the choice of the individual. Since the American Medical Association decided that alcoholism is a disease more than 30 years ago, and this issue is still debated. I have to ask the question what does support the concept of alcoholism as a disease. There is an abundance of information out there on this subject. The research I have done says that it is important to know that alcoholism is a illness, and no one asked to become chemically dependent, it is not your fault if you or your loved one is involved in alcoholism. And you should not feel guilty. You would not blame someone for having caner, or diabetes. Dorland’s Medical Dictionary defines disease as. “A definite morbid process having a characteristic train of symptoms; it may be the whole body or any of its parts, and its etiology, pathology, an prognosis may be known or unknown.” Alcoholism has strong genetic link there is no major...
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...well as all are new ways to “interact” amongst individuals. For this report we have chosen four online resources that provide information on the area of biomolecular biology and neurology, we will enumerate their usefulness to our particular field of interest and their incidence in our future professional careers. In the 1850’s, an Austrian monk Gregor Mendel discovered that he can manipulate plant offspring to breed plants selectively with traits that he wished to see; he cross-bred two tall pea plants and found that the offspring almost certainly expressed the "tall" feature. At the time, the scientific community was ignorant with genetic and DNA comprehension, but Mendel's work would prove to be a precursor to Darwin's evolutionary theory and eventually a foundation for all medical practice performed today. While our understanding of genetics is superb at best, new ideas and practices keep the medical field in constant progression. "Gene Editing Could Make Pig-to-Human Organ...
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...Abstract This paper provides an overview of ‘discipleship counseling,’ a philosophy of counseling articulated by Neil T. Anderson in his 2003 book of the same name. In the field of Christian Counseling there is a need for mixing secular psychiatric science and theological teaching. The first point addresses in Dr Neil T. Anderson book is that Christians are hurting for their lack of understanding of who they are in Christ. In the second point in this paper addresses the organizational structure of discipleship counseling that must be met. Finally barriers the counselee must overcome to experience true freedom, which is only found in Christ. Introduction Religion and psychology have often been viewed as incompatible. However, Christian counseling attempts to integrate the two in a meaningful fashion, so that clients are healed from their personal traumas while they become spiritually reborn in their connection to Christ. According to Dr. Neil T. Anderson's (2003) Discipleship counseling, God is the unspoken presence within every counseling relationship. The counselor does not have to consciously and constantly invoke God, and may choose not to do so because of the immediate needs or personality of the patient. But the sense that there is a higher power that is bigger than the self is always present. The therapist must realize that he or she is not God and do the work of the creator; he is merely a facilitator...
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