This website uses cookies to ensure you have the best experience. Learn more

Genetic Testing And The Diagnosis Of Genetic Diseases

1389 words - 6 pages

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 is separated from the other components of the blood (Holt, 2012). This DNA is sequenced by separating and amplifying DNA strands in the presence of dideoxynucleotides, which shortens strands by one nucleotide at a time. These strands are separated by length using electrophoresis and detected automatically by computers to be analyzed (Lyons, 2004). Another method of genetic testing is extracting one cell from an 8-cell embryo and using preimplantation genetic diagnosis (PDG) to determine the presence of disorder-causing genes (Holt, 2012).
These methods of genetic testing are accurate, as long as the genetic origin of the tested disease is known (Mahdieh & Rabbani, 2013), but their reliability is harmed by the fact that the results determine probability of diseases occurring (Holt, 2012). Even though a test accurately determines the presence of a given mutation, that mutation may only indicate a patient’s predisposition to developing symptoms. Since other genes or environmental factors may play a part in the tested disease, the results of testing aren’t entirely reliable for a conclusion of whether or not a patient will develop the disease.
One disease that can be tested for using these methods is Huntington’s...

Find Another Essay On Genetic Testing and The Diagnosis of Genetic Diseases

Biotechnology and Genetic Testing Essay

1701 words - 7 pages offspring developing the disease (NHGRI, 2013). Essentially, genetic testing can help diagnose patients early with the disease and prevent misdiagnoses, as well as provide important information regarding the genetics behind the aging process and may help us to better understand human aging. DNA testing can be regarded as both a right and a risk. Genetic testing is extremely useful in early diagnosis of diseases, such as progeria mentioned earlier

Genetic Testing and Screening Essay

2093 words - 8 pages . Cystic fibrosis, Tay-sachs disease and sickle-cell are three common diseases that are tested for in this area. A second test is the Prenatal Diagnosis test. This is a test of a fetus. The test is most often ran when there is a risk of parents bearing a child with genes that are associated with mental retardation or physical deterioration. A classical example is Down syndrome, which is the most common genetic disease screened by this method. A third

Genetic Testing and Screening

2660 words - 11 pages the use of genetic tests in underwriting [5]. Opinion There are both pros and cons to genetic screening and the underlying question is. Is genetic screening an ethical solution to human life? A person who is having, carrying, or is at risk of a disorder is subject to genetic testing. Pre-natal diagnosis for a genetic condition is available in the case of diseases like Down's syndrome. The increasing range of genetic tests for an increasing

Genetic Testing and Screening

3102 words - 12 pages questionable on the basis of ethics and legality and presents few benefits from the high costs (Blank 1982). I believe that genetic screening and diagnosis should be conducted on a voluntary basis. While there is a good case for compulsory screening for diseases such as PKU in which the inborn errors in metabolism can effectively be treated, I concede that this type of screening could still potentially interfere with the "respect for individual choice

Genetic Testing and Screening - 1427 words

1427 words - 6 pages Genetic screening is the testing of variations in gene sequences in protein or DNA. Protein screening is easier, but DNA screening is more powerful. It is a 'physical screening for a protein or genetic abnormality that may allow detection of a disorder before there are physical signs of it, or even before a gene is expressed if it acts later in life.' (web). This is a technique that is used on nonhuman species such as plants and some animals and

Genetic Testing and Screening - 1868 words

1868 words - 7 pages Many things are changing at an extremely rapid rate in our society. The new advances in the areas of science and biotechnology are raising many ethical and moral dilemmas for everyone. No one will be left unaffected. Everyone will have to make a decision and take a stand on these issues. I will discuss advancements of genetic screening and testing. The first step to any ethical problem is to understand the topic. It is difficult to formulate

Eugenics and Genetic Testing

1896 words - 8 pages The history of harmful eugenic practices, spurring from the Nazi implementations of discrimination towards biologically inferior people has given eugenics a negative stigma (1,Kitcher, 190). Genetic testing, as Kitcher sees it through a minimalistic perspective, should be restrained to aiding future children with extremely low qualities of life (2,Kitcher, 190). He believes that genetic engineering should only be used to avoid disease and

IVF and Preimplantation Genetic Diagnosis:

1222 words - 5 pages the chances of a successful healthy pregnancy. Preimplantation genetic diagnosis, or PGD, is a valuable tool for infertility treatment technology and can facilitate in successful IVF cycles. The IVF procedure involves removal of eggs from the female's ovaries using an ultrasound guided needle and fertilizing them in a laboratory with the male's sperm. After a certain period of incubation, the fertilized embryos are transferred back into the

Genetic Testing

2353 words - 9 pages genetic testing called preimplantation genetic diagnosis (PGD) in which fertilization is done in vitro (IVF) and the cells are grown to a multicell stage and then tested for the genetic mutation/malfunction. In the Abshile's case, they were able to implant three pre-embryos that were not even carriers for the disease. From those three embryos came the first baby to be certified free of the Tay-Sachs disease. Prenatal Diagnosis is genetic testing of

Genetic Testing

1493 words - 6 pages Genetic Testing The technologies available to aid in diagnosing genetic diseases and disorders have developed extraordinarily over the years. As a result, one topic up for discussion is how the technology should be used in the realm of diagnosing children before birth, mainly, using it to selectively screen embryos for genetic diseases. Leon Kass is one author who opposes genetic testing. He provides two main reasons why he feels it is morally

Genetic Testing

900 words - 4 pages reluctant to undergo testing, I may be subject to pressure from other family members. According to the article, it says "On the other hand, she wonders if it does better not know. At least then Priya would still have some hope." Same as Priya, if I am reluctant to take the test, I can at least have some hope that I don't have the disease. A positive genetic test can also lead me to an increased level of anxiety and I may feel guilty for having

Similar Essays

The Advantages And Disadvantages Of Genetic Testing

861 words - 4 pages children. For example, if someone has the high risk of diabetes running in their family their most likely to have it passed down to their children and even getting it themselves. I think the majority of people want to know what their genes carry, because it can have a huge impact on their life. Technological advances in genetic testing lend parents new insight about their children's risk factors for developing diseases later in life. The issue has been

The Benefits Of Genetic Testing Essay

1593 words - 6 pages purpose to confirm a diagnosis when a genetic condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed at any time in the lifespan, including before birth. Similar in purpose to the diagnostic testing is the carrier testing, mainly used to identify if a person is heterozygous for a mutation. This type of testing would be best fit for individuals who have a family history of a genetic disorder and perhaps wish

The Ethics Of Genetic Testing Essay

3438 words - 14 pages government as American Indians if there is too much of another race in his/her background? -The Lower Class: Prenatal genetic screening can cost from $500 to $1000. The expense of genetic tests prevents many people from using them. Prenatal diagnosis currently is used primarily by women from the middle and upper classes. This has some serious implications. Before the era of prenatal testing, a child with a genetically based mental or physical

The Underlying Genetic Cause Of Prion Diseases

2740 words - 11 pages can have disastrous effects through mutation. The underlying genetic cause of prion diseases is under investigation to understand how polymorphisms, host factors and mutations in the prion protein gene (PRNP) lead to severe physiological impairments and ultimately death, exemplified by Creutzfeldt-Jakob Disease and Familial Fatal Insomnia (Capellari et al., 2011). In humans there are multiple phenotypes associated with prion diseases the most