Genetic Testing and The Diagnosis of Genetic Diseases

1085 Words3 Pages
bulb-icon

Recommended: Genetic testing dilemmas

Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise. It is patients’ right to opt for genetic testing on their own DNA, although they are accepting a great risk by doing so. DNA is unique to each individual, present in each individual since conception, and influences who each individual is, so the information contained within it belongs to each patient, despite the risks. Such risks include DNA testing services providing results to potential employers or insurers, who can make decisions at the disadvantage of the patients if high disease probabilities are discovered. The results can also cause patients to react emotionally poorly and make negative changes to their lifestyles. Although risky, patients deserve the rights to take these risks if they choose to do so. Genetic testing is the testing of DNA in a patient’s blood in order to detect genetic disorders. This can be used to predict the disease risk of an embryo, an unborn infant, or a fully grown patient, including the individual’s risk of passing on a genetic disorder to offspring (National Institute of Health [NIH], 2013). To test adult patients, a blood sample is first taken from the patient and the DNA ... ... middle of paper ... ...on series episode]. In P. Apsell (Executive producer), Nova. Arlington, VA: PBS Lyons, R.H. (2004). How do we Sequence DNA? In A Primer in DNA Structure and Function. Retrieved from http://seqcore.brcf.med.umich.edu/doc/educ/dnapr/sequencing.html Mahdieh, N. & Rabbani B. (2013). An Overview of Mutation Detection Methods in Genetic Disorders. Iranian Journal of Pediatrics, 23(4), 375-388. PMCID: PMC3883366 National Institute of Health. (2014). HTT huntingtin [ Homo sapiens (human) ]. Retrieved from U.S. National Library of Medicine, Genetics Home References website: http://www.ncbi.nlm.nih.gov/gene/3064 National Institute of Health. (2013). Genetic Testing. Retrieved from U.S. National Library of Medicine, Medline Plus website: http://www.nlm.nih.gov/medlineplus/genetictesting.html Online Mendelian Inheritance in Man. (2014). HUNTINGTON DISEASE; HD. MIM number: 143100

Show More
Related

  • Geneic Nursing Assessment: Genetic/Genomic Nursing

    708 Words  | 2 Pages

    In conclusion, it is important for nurses to have proper training and information in the area of genetics and genomics so that it can be used in daily clinical practice (Thompson & Brooks, 2011). Using this information with clients and conducting a detailed genetic nursing assessment is a valuable component of being an effective health care provider and can help clients recognize, prevent, and/or treat diseases that are unique to their particular

    Read More

  • Cracking Your Genetic Code: A Review of Genetic Testing

    1554 Words  | 4 Pages

    By using identified gene mutations that are known to cause diseases, asymptomatic individuals are able to discover if they are at risk for specific genetic conditions; this is known as genetic testing. Unfortunately, genetic testing can vary in its predictive ability. For example, Huntington disease, Duchenne Muscular Dystrophy, Fragile X syndrome and multiple endocrine neoplasia type 2 are conditions that can be determined by genetic testing (Samen, 1996). In contrast, for multifaceted diseases like Alzheimer’s, breast and ovarian cancer and colorectal cancer, predisposition can be determined with genetic testing. However, an absolute diagnosis of those diseases cannot be made (Heshka et al., 2008).

    Read More

  • Screening: The Pros And Cons Of Genetic Testing

    751 Words  | 2 Pages

    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)

    Read More

  • The Pros And Cons Of Genetic Testing

    708 Words  | 2 Pages

    There are several types of genetic tests that can give us a broad amount of information about ourselves, our parents and/or children (What is testing?). Personally, I see advantages and disadvantages to it. Anyone is able to find the probability of them having a disorder or disease and start dealing with before it gets to a lethal stage. For women, it is reassuring to know whether a disorder that they possess can be passed on to their children or not. They can also know whether their child is healthy or not before it is even born. It also impacts on how scientists deal with diseases since they are given a different output of the disease at its early stages and allows them to study it until a cure is found. But what happens when your private information goes public? People will be treated differently because of a high risk of having a cancer in the future. In your CV, your past experiences and your qualities will be accompanied by your genetics test results that inform the company whether you will be a risk to them in the future. A new kind of discrimination will be created in our society. A second major disadvantage to genetic testing is people using it for “superficial” purposes like changing children’s eye colors and other biological characteristics that should not be changes. Above the disadvantages are the benefits which are why I am all for the genetic testing for health-related purposes.

    Read More

  • Identifying DNA Abnormalities Through Genetic Testing

    1281 Words  | 3 Pages

    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.

    Read More

  • Genetic Testing in the Workplace

    2027 Words  | 5 Pages

    Testing of one kind or another has always been very common in the job application process, whether it’s the testing of one’s skill sets through an application or drug testing. Now, through scientific advances of the Human Genome Project, a new type of testing has become available to employers: genetic testing. This new sort of testing would detect any genetic problems in a potential employee’s DNA, including genetic predisposition for disease and possible health concerns in the future. Genetic testing could be beneficial to companies monetarily, as it would be a way to screen their employees for long term, damaging factors which could be expensive for the company. The legal right to do so, however, is a controversial issue in the business world. Many people regard it as an invasion of privacy, an open invitation for bias in hiring pools, and a violation of the Americans with Disabilities Act (French). Genetic testing could be used in both the hiring process, and as an attempt for companies to cater to their employees’ needs. It could also, however, be used as a tool of discrimination against those with minor or major genetic abnormalities. Many ethical issues are raised: does a person have a right to anonymity in their DNA? Should employers discriminate against those with genetic problems, a factor out of the subject’s control? These disputes and more are what make genetic testing in the workplace a contentious topic today. Unless an act, such as the Genetic Nondiscrimination in Health Insurance and Employment Act, is passed, discrimination will run rampant through the job market, injuring the modern employee in the process. Despite the quantity of information about employees that could be retriev...

    Read More

  • The Ethical Issues of Genetic Testing

    1419 Words  | 3 Pages

    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.

    Read More

  • Persuasive Essay On Genetic Testing

    740 Words  | 2 Pages

    In recent years, genetic testing has become a popular topic in the media. Usually involving cheek swabs, blood samples, or amniotic fluid samples, the procedure is relatively simple and can help diagnose genetic disorders, determine ideal medication types, or simply determine the patient’s heritage. It has saved many lives from cancer and other afflictions, but to say that genetic testing is always the correct choice is false. There are many issues with the tests, considering that they are new to the medical world. Genetic testing is mostly harmful because of privacy concerns, how underdeveloped it is, and the risk of it pushing a mother to abort her child.

    Read More

  • Genetic Screening

    2630 Words  | 6 Pages

    Blatt, R., An Overview of Genetic Screening and Diagnostic Test in Health Care. Obtained form www.geneletter.org/0996/screening.htm

    Read More

  • Genetic Testing and Screening

    1882 Words  | 4 Pages

    Genetic screening can be used to refer to any activity that locates or advises people about genetically connected diseases. The first large-scale genetic screening project began in the 1960's with the Guthrie test which tests infants for PKU (phenylketonuria) (Munson, 1996). Currently with the advances being made by the Human Genome project we are achieving a much more detailed understanding of the relationship between specific genes and diseases. Approximately nine hundred gene or gene markers have been linked to diseases (Munson, 1996). With all of the new information about our genes, the ability to develop tests to screen for these genes is becoming possible for a much larger number of diseases. Some of the current DNA tests available diagnose Adult polycystic kidney disease, Alpha-1-Antitrypsin deficiency, familial adenomatous polyposis, hemophilia, Huntington's disease, myotonic dystrophy, and familial breast cancer susceptibility (Munson, 1996). Many more tests are well on the way to being developed. With the possibility o...

    Read More

  • Genetic Screening

    1967 Words  | 4 Pages

    Genetic Screening is a relatively new concept that is just now becoming more widespread. In simple terms, the process uses techniques that enable the technician to identify mutant DNA in the person's genetic make up. If a mutant is found, medical precautions can be taken. If none is found, then it can be assumed that the person does not carry the deleterious gene and has the same risk of contracting the disease as anyone else in the population.

    Read More

  • Ethical Issues of Genetic Screening

    2857 Words  | 6 Pages

    As we approach the 21st century, we as a society are increasingly bombarded with technical advances. One such area of advancement is the research involved with the Human Genome Mapping Project (HGMP). HGMP is a multi-billion dollar world wide research collaboration interested in sequencing the entire human genome. Started on October 1, 1990, with a group of over 350 labs, and expected to finish within the next 5 to 7 years, the Human Genome Mapping Project has given rise to many important advancements and many discoveries about the genetic make-up of humans (Bylinsky, 1994). With these advances come many ethical questions and concerns. The ability to screen an individual for specific disease will, in the future, play a major role in each of our lives. Genetic screening is defined in Genethics, by Suzuki and Knudson (1990), as "the examination of the genetic constitution of an individual - whether a fetus, a young child or a mature adult - in search of clues to the likelihood that this person will develop or transmit a heritable defect or disease."

    Read More

  • Genetic Testing or Genetic Screening

    1504 Words  | 4 Pages

    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.

    Read More

  • The Pros And Cons Of Genetic Screening

    610 Words  | 2 Pages

    Due to its nature, genomic testing is often used for prenatal diagnosis of disease (Glenn). Most parents desire a physically and mentally healthy newborn. However, genomic testing would open a gateway for parents to know if the child will be healthy while still in the phases of in vitro

    Read More

  • The Advantages and Disadvantages of Genetic Testing

    717 Words  | 2 Pages

    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...

    Read More

More about Genetic Testing and The Diagnosis of Genetic Diseases

Open Document