Case Study: Genetic Testing in Children
Erika Caraballo
University of West Florida
CASE 1: Genetic Testing in Children
Currently, about 1.38 million women are diagnosed with breast cancer annually around the world. About 5-10% of the cases the disease is hereditary. Women who carry a mutation in BRCA 1 or BRCA 2 gene have an increased risk for developing breast cancer. Genetic counseling and testing are offered to high-risk patients. Although no standard criteria for recommending or referring patients for BRCA1 or BRCA2 mutation testing are available, several mathematical models have been developed such as BRCAPRO and the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm. Many centers offer BRCA1 and BRCA2 gene mutation screening to women diagnosed with breast cancer. Tests are generally offered to patient’s ages 35 and older (Franken, 2013).
Legal Issues
I do not think testing Lindsay for the
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There are current studies that also suggest that various parents might have an interest in predictive genomic testing in their children as Mrs. Allen does. Some parents have gone through the process of testing their child and feel that they want to give their children as much information as possible about their genes, so they can better manage their health (Borry, 2014). It is clear that predictive testing for low penetrance variants does not cause the same ethical, psychological, or emotional concerns as predictive testing for highly penetrant monogenic conditions but there is still a chance for damage. This is one of the many reasons why it is important to consider all aspects of the child’s well-being before consenting to have the child tested as it can also have an impact on their psychosocial
In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.
A genetic family history assessment contains information about family structure and relationships. A typical nurse will use a three-generation family pedigree to gather the information. By doing so, nurses can be aware of which family members are at risk for disorders from a genetic component. Therefore, they can be provided with lifestyle advice, recommendations, and referrals to appropriate specialists (Kaakinen, Coehlo, Steele, Tabacco & Hanson, 2015). A genetic family history assessment will be provided about my family.
Genetic Screening is a medical test that examines ones DNA. It can find mutations in chromosomes, genes, and proteins. These tests can confirm or refute a suspected genetic condition that could become a serious problem for one in the future. They can also help figure out a persons probability of getting certain diseases or sicknesses like cancer or diabetes. ( What is Genetic Testing?, para 1) There is also carrier testing which can be used to see what diseases couples may carry before having children. (What are the benefits of genetic testing? Para 1)
Genetic testing involves examining an individual’s DNA and identifying abnormalities within the chemical makeup of specific structures. It, essentially, maps the person’s genome and can be interpreted to predict future issues. By analyzing the chromosome, genes, and even certain proteins, physicians and researchers can find changes that lead to inheritable disorders. These changes can lead to possible diagnosis or cure for the disorder in question. In most cases, genetic testing is used to determine the probability that an individual will develop a certain disorder. It is not used to specifically diagnose a disorder, as there are no techniques that are 100% accurate. Genetic testing techniques do give good evidence to confirm a physician’s findings, but it is not the first act a physician takes to diagnose a disorder. It can narrow a search or rule out a specific disorder very confidently, but making a diagnosis based solely on genetic testing is not an action that a qualified medical professional would consider.
When it comes to genetic diseases and conditions, testing can be very helpful and serve a good purpose. People with diseases that are inheritable to their children are encouraged to be tested. For example, in the article about Jewish testing, it says
There are many different reasons that woman maybe at a higher risk for breast cancer than other woman. Family history is risk factors that increase a woman’s likelihood of getting breast cancer. What this means is if a woman is in a family where this disease is common among female or even males they are at a higher risk for being diagnosed with breast cancer than someone who is in a family where breast cancer is not common. If the relative that has this disease is one that is very close meaning they are either a sister, mother, or daughter the likelihood that said person will also contract the disease is then doubled. This is mainly due to the fact that in close relations you are able to inherit the genes BrcA-1 or BrcA-2, these genes are mutation genes that play a role in controlling the growth of cancer cell. Only a small portion of women inherit this gene about 1 in 500 to be exact, however when they do inherit this gene they have a 80% chance of developing breast cancer in their lifetime. This gene causes woman to develop cancer at a younger age usually before the time they hit menopause. Also, women with this gene have a greater risk of developing cancer in both breasts which is called bilateral breasts cancer. This is due to the fact that once the cancer develops in one breast the risk for developing it in the other breast increases. (“Breast Cancer”) "About 5 to 10% of breast cancer is hereditary, passed from one generation to the next via a variety of mutated genes". (Port 95-105) Lastly,
The Human Genome Project is the largest scientific endeavor undertaken since the Manhattan Project, and, as with the Manhattan Project, the completion of the Human Genome Project has brought to surface many moral and ethical issues concerning the use of the knowledge gained from the project. Although genetic tests for certain diseases have been available for 15 years (Ridley, 1999), the completion of the Human Genome Project will certainly lead to an exponential increase in the number of genetic tests available. Therefore, before genetic testing becomes a routine part of a visit to a doctor's office, the two main questions at the heart of the controversy surrounding genetic testing must be addressed: When should genetic testing be used? And who should have access to the results of genetic tests? As I intend to show, genetic tests should only be used for treatable diseases, and individuals should have the freedom to decide who has access to their test results.
Within the past thirty years, researchers have found strong evidence linking genes and disease. The development of predictive genetic tests followed shortly after the isolation of certain candidate genes. Although predictive genetic screening is only available for a handful of diseases, its effects and ramifications have become hotly debated issues in a wide range of areas, from government to religion. The debate began in the 1993 when researchers isolated the BRCA1 gene, which is associated with increased risk of developing breast and ovarian cancer. The discovery of this gene led to excitement and speculation of developing a predictive genetic test to identify those women at risk for these cancers. In this paper, I will first describe the biology of genetic testing, and then discuss the pros and cons of predictive genetic testing.
A genetic test can help a person prepare for the future. For instance, if a couple wanted to have kids and they knew a disease like sickle cell ran in the family they may consider getting a genetic test. They would be able to find out whether or not they ar...
The desire to have a "normal" child is held by every parent and only now are we beginning to have the ability to select for that child. In preparation to receiving genetic testing, the parents are required to meet with a genetic counselor. A detailed description of the testing methods are reviewed with the couple as well as the risks which are involved with each. Upon an understanding of the procedures, the counselor discusses the many possible outcomes which could be the result of the diagnosis. Finally, before any tests are performed, anxieties from either of the parents are addressed as well as the psychological well-being of the parents.
In today’s world, people are learning a great deal in the rapidly growing and developing fields of science and technology. Almost each day, an individual can see or hear about new discoveries and advances in these fields of study. One science that is rapidly progressing is genetic testing; a valuable science that promotes prevention efforts for genetically susceptible people and provides new strategies for disease management. Unnaturally, and morally wrong, genetic testing is a controversial science that manipulates human ethics. Although genetic testing has enormous advantages, the uncertainties of genetic testing will depreciate our quality of life, and thereby result in psychological burden, discrimination, and abortion.
After completing my family genogram, I was able to notice the history of a couple of patterns of fusion in particular. One of the relational patterns that stood out was emotional abuse which for the sake of this assignment I have only traced it back three generations, starting with my paternal grandfather Marciano, who endured the aftermath of the WWII and who conceived out of wedlock (COW) from Spanish and Mestizo parents and who married a woman Fidelina, of Chinese and Indian origin, born in El Salvador like him. Based on anecdotal accounts, Marciano was particularly emotionally abusive towards Rosa, my mother, who is also the first born of the couple and COW. Marciano had very high standards of beauty and intellect, which often triggered name calling, insults, and other forms of humiliation aimed towards my mother, causing her to feel belittled and resent his treatment towards her.
Genetic testing, also known as screening, is a rapidly advancing new scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives. Genetic screening is the sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological. As genetic screening becomes more advanced and easily accessible, it presents society with difficult questions that must be asked about the boundaries of science and to what degree we are allowed to tamper with the human genome. To better understand the potential impact of genetic screening on our society, we must examine the potential benefits in comparison to the possible negative impact it may cause. With this knowledge in hand, we can examine what the future holds for this field of study and the best possible direction to take.
First of all, I want to start by saying that I 'm not discriminating the disabled community, but this is a very large number that could possibly be diminished with the help of genetic testing. (1) I believe that there is nothing wrong with testing the genes of an unborn child to possibly determine if it could develop a genetic disorder in the future. One of the advantages that genetic testing provides is that the parents could now be informed of the situation, and keep track of their unborn child 's health. I 'm sure those parents are pleased with this technology, and the chances to be able to keep track of their baby. This a baby, and is something very precious, and valuable, and I believe that parents want to keep track of anything that may happen with the unborn child. I 'm sure that a large amount of people would agree would agree that they don 't want to suddenly take the hard hit. When the news is presented in the delivery room. This serves more as an advantage than a disadvantage, due to the fact parents. Pull be more prepared, or possibly have the option to abort it. This is a right that the parents should have regardless of the opposing side arguments towards it. Im a hundred percent sure that the opposing side has very strong arguments towards genetics testing, and one of the main ones is "playing God." The opposing side believed that some things in
Genetic testing can help people determine why they get cancer or other diseases. Genetic testing is recommended to people who have a family history of a genetic disease, have children who are born with genetic defects, and have gone through more than one miscarriage in the past. Though these te...