Genetics, Disease Counseling - 4765 Words

Genetic Disease Diagnosis, Screening and Treatment Advocacy and Decision Making in Genetics Competencies for Contemporary Nursing Issues (GNT1) Juanita Allen Janette Barney Western Governor s University Task 3 724.2.5-03-08 724.2.6-02-09 Mr. and Mrs. Trosack have recently been told through chorionic villus testing, that their unborn child has Tay Sachs disease.As the case manager there should be several appropriate members identified for an interdisciplinary team to obtain information for the Trosacks initial visit. Those team members include, a high risk obstetrician, or perinatologist, obstetric nurses, a geneticist, a social worker, and or genetic counselor who specializes in such genetic diseases, and it would be†¦show more content†¦In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosa ck couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease. The genetic counselor should have a great deal of experience in dealing with specific genetic diseases, including Tay Sachs disease. They would be able to provide a list of support groups and or families they could refer the Trosack s to in order for them to relate to others who have been through the process before. This type of assistance is chosen as part of the interdisciplinary team to assist this couple, especially Rita in understanding what they will be going through and what emotions to expect in the process. It willShow MoreRelated Genetic Screening is Necessary Essay1679 Words   |  7 PagesGenetic Screening is Necessary You are sitting in the counselors office, waiting. You are staring at the walls, trying not to think about what you are considering, but still thinking about it. Will I get cancer? Do I have the gene that will increase my likelihood of getting cancer ? My grandmother had cancer. Two of my aunts have had cancer. What about me? If I have this test, what happens then? The door opens and in walks the counselor. Time to find out about genetic screening. GeneticRead MoreDna Knowledge And Its Effects On The Human Of Individuals And Their Families1681 Words   |  7 Pagesrights to have children or not have them if their genetic characteristics include some kind of inherited disease (Fernà ¡ndez, 2009). In the 1940s and 50s, the genetic counseling gained popularity, creating the prenatal diagnosis and the therapeutic abortion, a form of abortion that became legal in the 60s in many countries (Fernà ¡ndez, 2009). Since 1970, eugenic practices are widespread across genetic diagnostic techniques, embryology, and molecular genetics that have had a spectacular development by implementingRead MoreI Am Working As A Family Health Nurse And Counseling A Married Couple Essay1054 Words   |  5 Pagescaring for families who need genetic counseling, it’s essential that the nurse understands and considers the family’s values, background, beliefs and behaviors. This information is valuable when setting mutual goals, developing car e plans and choosing interventions (Andrews and Boyle, 2016). In this post I will imagine that I am working as a family health nurse and counseling a married couple who are seeking my advice because they are both carriers for Huntington’s disease. As a nurse it’s my responsibilityRead MoreThe Case Of Jennifer And Jianshe Li952 Words   |  4 Pagesthe central nervous system, which is linked to genetics. I would recommend they ask the specialist how the pregnancy could affect Jennifer. Would the pregnancy be detrimental to her health? I would suggest getting a second and a third opinion. Would the fetus survive if it was afflicted with the disease? These are questions that only a specialist in neurology would be able to answer. I would help them look for a specialist who is familiar with the disease; consequently, it would be beneficial to findRead MoreGenetic Counseling : A New Field Emerging From An Intersection Between Genetics, Medicine, And Psychology1249 Words   |  5 PagesGenetic counseling is a new field emerging from an intersection between genetics, medicine, and psychology. As with most counseling, genetic counseling is a process of communication intended to help individuals and their families. However, for genetic counselors, they must also be able to comprehend medical information, including the management for various disorders. These individuals must also have an in-depth understanding of how heredity contributes to the risk and occurrence of disorders. TheyRead MoreThe Function Of The Msh2 Protein986 Words   |  4 Pagesmutation that leads to the disease is passed down from parent to child. Each parent has a 50/50 chance of passing the disease down to each of their children. As stated in Wikipedia, â€Å"Hereditary nonpolyposis colorectal cancer (HNPCC), sometimes referred to as Lynch syndrome, is inherited in an autosomal dominant fashion, where inheritance of only one copy of a mutated mismatch repair gene is enough to ca use disease phenotype† (https://en.wikipedia.org/wiki/MSH2). Today we use genetic testing for diagnosingRead MoreGenetic Testing And Mental Health Disorders1039 Words   |  5 Pages There are genetic components that are being identified in the diagnoses of mental health disorders associated with Huntington’s disease through human genome and family research. Diagnostic and presymptomatic testing is available by discovering a gene mutation for Huntington Disease (HD) and prepares persons who are at risk for Huntington Disease (HD) to ask for genetic testing. A multi-visit protocol is enacted when HD genetic testing is offered through HD testing centers, followed by educationRead MoreWhat Is Mutation? What Is a Gene Mutation? Discuss Sickle Cell Anemia (Its Cause, Effect, and Treatment) B) What Are Mutagens and Their Effects? C) What Is Genetic Counseling? Discuss the Advantages and Disadvantages of This Procedure.873 Words   |  4 Pagesmutation is present throughout a persons life in virtually every cell in the body. Mutations t hat occur only in an egg or sperm cell, or those that occur just after fertilization, are called new (de novo) mutations. De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell, but has no family history of the disorder. Acquired (or somatic) mutations occur in the DNA of individual cells at some time during a persons life. These changes can be caused byRead MoreDiabetes : Diabetes And Digestive And Kidney Diseases882 Words   |  4 Pagesnumber of adults with diabetes has increased immensely from 5.5 million to 19.6 million (Centers for Disease Control and Prevention [CDC], n.d.). Diabetes global prevalence research by Wild, Roglic, Green, Sicree, and King (2004) predicted that, the total number of people with diabetes will rise from 171 million in 2000 to 366 million in 2030. Diabetes has many causative factors that encompass genetic, lifestyle, and environmental categories. Diabetes can vary in different individuals in correlation Read MoreEssay Muscular Dystrophy717 Words   |  3 Pagestreatment of, and cure for Muscular dystrophy since its discovery in 1886, by Dr. Guillaume Duchenne. Muscular dystrophy is a hereditary disease, affecting thousands of people every year, two-thirds being children between the age of birth through adolescents. Muscular dystrophy can also occur with no family history of the disease. Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached