Essays on Genetic Testing

Introduction

Genetic counselling is defined as the information, guidance, and support provided by a genetic counsellor or medical geneticist to an individual, a couple, or a family about a genetic condition. The information may help the client (affected individual or family) understand how a gene variant underlies an observed phenotype, disease prognosis, and the probability of transmission to progeny. Apart from information to help the client make informed decisions about lifestyle, treatment, and reproduction, a counsellor provides psychosocial support to minimize the adverse psychological, intrafamilial, and social consequences of genetic testing. Therefore, genetic counselling has an educational as well as ...

The rediscovery of Mendel's works on heredity in 1900 became the foundation to investigate more on genetics. However, the acceleration of the study of genetics was slow, taking more than half a century later for Watson and Crick to crack the chemical basis of heredity. In fact, their proposal, the double helical structure of DNA, became the beginning of modern biology. Over the next 30 years, the advent of recombinant DNA technology allowed us to sequence specific DNA segments (Collins & McKusick, 2001). Note that mapping specific regions of a particular DNA offers explanations to many traits, including behaviors, disorders, ...

Kimiesha Nichols

Genetics has a major role in the onset of large number of non-communicable diseases, especially in case of monogenic diseases. As a result, genetic testing has gained credit and recognition for some advantages this DNA testing offers in prevention, treatment and management of disease. Two of its most important uses include for having information about genetic disposition to a particular disease and knowing about genetic characteristics of unborn child (Ross et al 2013). Rising from the elucidative potential of DNA testing, some legal, ethical and social concerns have surfaced up. The present essay with discuss these concerns to know ...

In 1872, the 22-year-old George Huntington presented a paper describing an elaborately outlined inheritance pattern of a disease, which during the time was referred to as "chorea." In his paper, which was presented at the Meigs and Mason Academy of Medicine at Ohio, George described all the features of the adult-onset form of the disorder and outlined the disease’s autosomal-dominant pattern of inheritance. Although the mechanism underlying the inheritance pattern of the disease was not understood until the rediscovery of Mendel’s works, his paper was so comprehensive that George Huntington quickly became widely acclaimed. In fact, he ...

Abstract

Hemophilia is a genetic condition that is traceable in generations. The disease is usually linked to the excessive bleeding of the patient at a point where the blood vessel is damaged. A lot of research on the disease has been carried out trying to define the origin of the disease and offer extensive support to the solution of the condition. Over time, the disease has attracted extensive attention as the cases of the disease increase. It has not been easy to control the disease since the condition has been overwhelmingly disturbing to the patients as well as the family ...

Could there be a way for consumers to gain information on their predisposition to diseases or to tailor fit health care according to their genetic predisposition? Due to the onset of high technology, it is now possible for people to acquire their genetic information through direct-to-consumer (DTC) marketing of personal genetic (PG) and personal genomic (PGM) testing. This is especially useful when they want to be knowledgeable about their inherited susceptibility to disease or to have disease treatment tailored fit. Direct to consumer genetic testing has both risks and potential benefits. I believe that consumers should have direct access ...

The purpose of this paper is to review the etiology, pathophysiology, clinical manifestations, inheritance patterns, and recent advances in disease management of cystic fibrosis. Cystic fibrosis is a progressive and lethal disease resulting from an autosomal recessive gene (Singh, Rebordosa, Bernholz, & Sharma, 2015). The major problem associated with cystic fibrosis is the repeated lung infections that over time severely damage the lungs, scar and widen the passageways and limit the ability to breathe (Cystic Fibrosis Foundation, n.d.). As of 2013, there are an estimated 70,000 cystic fibrosis patients globally with 33,000 of them in the United States ( ...

Almost every nurse will come across clinical situations that pose ethical dilemma in their practice. In this paper, we look into the ethical dilemma associated with genomic and genetic issues in acute pediatric care settings. Genetic testing and gene based therapies are an integral part of pediatrics. Genetic diseases are commonly identified in the early days of life. Approximately, 53 out of 1000 children, are diagnosed with a disease that is linked to a genetic etiology. As front desk executives, nurses are more likely to participate in activities that involve genomic testing and gene based therapies. The advent of ...

Abstract

Worldwide, ovarian cancer is ovarian cancer is the sixth most diagnosed cancer and is responsible for the most deaths annually than any other disease of the female reproductive system. It has a poor prognosis because the symptoms are vague even into Stage IV of the disease. Epithelial ovarian cancer constitutes about 90% of diagnosed cases. Research has demonstrated that hormone therapy, chronic pelvic inflammation, and BRCA1 and BRCA2 germline pathogenic variants are factors in the etiology of ovarian cancer. BRCA1 and BRCA2 is also associated with breast cancer, pancreatic cancer, fallopian tube cancer, prostate cancer, and primary peritoneal cancer. ...

Medical genetics is viewed as one of the ways to diagnose and manage any hereditary disorders. It encompasses various areas, such as physician’s clinical practice, activities in diagnostic laboratory, and even research to point out the possible causes of genetic disorders. This medical approach can be beneficial many people, as there could be new ways to predict any future diseases that may arise due to the disorders of the gene. It can also benefit the children when it comes to knowing the possibility of having medical issues based upon the tested genes of his or her parents. However, ...

Genes are the hereditary units that express proteins in a cell to carry out body metabolism and overall growth and survival. They are the functional units on DNA that is packages inside the nucleus within chromosomes. Humans consist of 23 pairs of chromosomes where 22 are autosomes and one is sex chromosome. These chromosomes have been studied to comprise of around 25,000 protein coding genes. There are continuous phenomenon of changes and aberrations occurring in bases and chromosomes that alter its composition and sequences. These changes or mutations can be harmful if it modifies the gene information as ...

Technology advancement in the medical sector has had an important contribution in the pathology of many diseases. One of the innovations has been, testing human DNA, commonly referred to as Genetic testing. The procedure involves determining the DNA sequence and changes in the DNA sequence of specific genomes in a human body (McCormick and Connors 317). The tests are used to diagnose traits and diseases, assess the severity of a given disease, and determine gene changes that can be inherited from one generation to another, determining medical treatments and gene changes that have a higher risk of causing a ...

Genetic testing has become a mainstream ideology and practice in the contemporary world. Previously, pregnant mothers could not have acquired some vital information regarding the health status of the fetus. However, with advances in technology, today, mothers are provided with reliable information that can help determine the health of the fetus and thus develop strategies to minimize risk of disorders or maintain the health of the fetus depending on the results (Bianchi, Parker, Wentworth, Madankumar, Saffer, Das & Oliver, 2014). While genetic testing has become a common phenomenon and most couples will consider this information as accurate and final, as ...

Notably, the numbers of African American women reported to have hypertension in several genetic studies have been high. However, there have not been any efforts targeted at examining the attitudes of these women towards genetic testing for the condition (Taylor, et al., 2013). From he foregoing therefore, this study was aimed at examining the attitudes of these women towards the probable benefits and barriers concerning genetic testing for the condition through the application of triads that focus on different generations. This study was done to determine if indeed, there are differences in terms of their levels of education, their ...

Abstract

In the following case-study, Joshua is a newborn infant presented by his parents Samuel and Rachel to the pediatric outpatient unit of Robertsbridge, Sussex for screening and medical advice for sporadic vomiting at the time of breast feeding and seizure-like episodes. Samuel and Racheal also report sweet odor in the urine and loss of weight. Blood tests demonstrated increased concentrations of leucine and isoleucine. Genetic testing on the skin biopsies reveal mutation at Exon 6, c.659C>T of the of BCKDHA gene with a protein level p. A220V and Joshua exhibits about 1.5 % lesser than normal deficiency in the ...