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.
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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 disease, which causes involuntary spasms and contractions and a decline of coordination and cognitive ability (Online Mendelian Inheritance in Man [OMIM], 2014). These symptoms occur as a result of a trinucleotide repeat in the huntingtin gene on chromosome 4p16.3, also known as the HTT gene. The disease is autosomal dominant, with the completeness of its
If the genetic information is only accessible to the individual then there is a decreased chance of such discrimination occurring because the information is disclosed to who the individual wishes to. Genetic information can raise questions about personal responsibility, personal choice versus genetic determinism, and concepts of health and disease. Personal factors, family values, and community and cultural beliefs can mould the reactions to these issues. For example the response to the genetic information and suggestion from physicians after the test will be drastically different in a society where traditions and religion determine life choices, such as India, than to a more individually liberal society like the USA. Even in a progressive society that has had specific ethnic groups for multiple generations disparities with medical technology are common. A study conducted, using the national representative data, in the USA with the sample that consisted of 1724 men and women of non-Hispanic whites, Latinos, and African American background. Results exposed significant differences by racial/ethnic groups in knowledge and concerns about the potential misuse of genetic testing. Significantly higher levels of mistrust in a physician and the medical system was a common thread within minorities. The genetic tests can be a way of ridding anxiety attached to the assumed inheritance of genetic disease due to family background whilst for others the genetic test reveals their reality. The results can have a great deal of a psychological impact upon the individual. The possibility of developing a genetic disease alone can create anxiety within some. The psychological impact from the results revealed is another issue that society is concerned about. A
There is much controversy around the issue of genetic testing. These controversial issues range from being "unnatural" or against god 's will. There are several different ways to tests genetics but they all have one thing in common: they test for changes or mutations in chromosomes, genes, and proteins. These tests can provide answers for many families who want to know whether their children have become inflicted with a condition due to their family 's genetics, the health of the mother during the gestational period, or by some strange twist of the unknown. Despite all of the controversy, Genetic Testing is acceptable for determining whether an unborn child is at risk of developing a debilitating and/or deadly condition, relieving the worry of parents, and preemptively treating any condition that the child may have.
When people have a genetic test done, whether it is presymptomatic, prenatal, newborn, or carrier testing, professionals have the ability to access them. This becomes a main concern of those who get genetic tests done because they have the capability of being dropped by their employer or insurance The companies cannot discard a person because of their genetic predispositions, but they can find loopholes to get rid of them legally. Direct-to-Consumer tests, however, cannot be accessed by employers or insurance companies without consent. “Thanks to the Genetic Information Nondiscrimination Act (GINA) signed into law in 2008, consumers need not worry about the impacts on their health insurance policy and employee status as a result of pursuing DTC genetic testing” (Su 1). This way, a person can understand their genetic predisposition without the fear of being dropped by an insurance or an employer.“The initial criticism of DTC genetic testing highlighted harms from both advertising of tests and access to tests in the absence of a health care provider intermediary” (Javitt and Hudson 2), but Direct-to-consumer tests remove the fear of outside companies finding out about their susceptibilities to genetic diseases. Many people believe Direct-to-consumer tests can be inaccurate, but with the extensive knowledge of DNA, and what is not discovered, there will be mistakes whether it is done by a medical professional or not.
I do not believe that “direct-to-consumer” genetic testing is wise, especially without the involvement of trained professionals or set guidelines. As mentioned in the prompt, some of the risks that I believe are important involve the ethical and social challenges direct-to-consumer testing can create as well as the complexity of certain genomic tests.
As technology is improving, there is becoming more of a debate for if parents should get their kids genetically tested. There are three reasons why you shouldn’t, it produces anxiety, finds unknown information, and it can find incurable diseases.
The use of WGS brings to light several ethical issues. First, the majority of patients that come for initial diagnosis are minors. Therefore, it is usually a parent or guardian that consents to the any testing which raises the issue of what results to report back to the patient and family. The European Society of Human Genetics has recommended to filter out known variants that have little or no clinical utility. While the American College of Medical Geneticists states that there needs to be a respect for autonomy, report all incidental findings regardless of age, and proposes patient’s decision shall apply to the entire set genes deemed actionable. Although, the Canadian College of Medical Geneticists recommends communication to parents about all results of a clinically actionable conditions that will present during childhood; furthermore, adult-onset should not be disclosed unless it could prevent harm to the health of the parents or other family members and if the parents desire the disclosure (Szego & Zawati, 2016).
Breakthroughs in genetics have allowed parents to test their babies DNA in the womb for potential genetic diseases and disorders. The test is done by isolating the babies’ genetic material that is coursing through their mothers veins through a blood test on the mother. After the genetic material is found it is put under multiple diagnostics to determine if the baby has any of a wide variety of conditions such as Down’s syndrome, Tay-Sachs and cystic fibrosis. This Prenatal Genetic Screening can also tell many different traits on the developing baby such as its gender. Many believe that this procedure to be unethical but genetic screening can do more good than harm.
Personal DNA testing is not completely accurate and can cause unnecessary stress. This tool is relatively new and needs further developments to be completely reliable. I realize that people give their consent to get tested, but is it fair to offer such an unreliable test? I am sure people have taken their lives over the results from genetic testing because it scared them to death. Nothing should ever make people feel like they are not worth living for. This procedure was designed to allow individuals to prevent diseases that they were unaware of. Although, it may have done the opposite. To add, the cost is unreasonable for the average person. It is important for people to consider the consequences and benefits of such a practice before giving consent. I will recommend this video to my friends or family who consider personal DNA testing. I think Neil Tyson touched on some very great points that are worth
What would you do if an immediate family member of yours developed a popular genetic disease and there was a possibility of you having it? Wouldn’t you want to know whether or not you had it as well, in your genes? Genetic testing allows for people to know if they have a certain genetic disease, if they need to get a certain treatment plan set up, or if there are ways to prevent it from becoming present or visible in the body. Genetic Discrimination is no longer legally allowed, meaning that there is no longer a need to fear the possibility of your genetic information getting into the wrong hands. Genetic testing should be done by anyone who may have a chance of developing any type of disease that could be life-threatening or not.
There were approximately 300 genetic tests available that time. It is significant to note that the reference sequence of human genome was completed by Scientists in April 2003 (Hudson et al, 2008) and current genetic tests encompass over 1500 conditions. Barclay and Markell (2007) explained the ability to establish and document a person’s genetic composition is known as genetic mapping. It must be noted that genetic mapping was achieved through the Human Genome Project (HGP) as a collaborative international research program (Barclay & Markell, 1999). Genetic information was considered to be adequately different from other health related information thus the need for special legal protection (Ginsburg,
Huntington's disease is a genetic disease that causes nerve cells in the brain to deteriorate over time, leading patients to suffer from involuntary movements, emotional disturbances, and cognitive decline. The disease is caused by the mutation of a single gene located on chromosome four. The faulty gene, which codes for a protein called huntingtin, can have anywhere from thirty to fifty more repeats of the CAG codon than a healthy gene. The function of huntingtin is unknown, but an over-abundance of it is confirmed to be the cause of Huntington's disease. Genetic testing and diagnosis for Huntington's disease usually focuses on analyzing blood tests from both the individual and a family member to count the number of CAG repeats encoded in
When the emotions are put aside, DNA testing is a bewildering tool and a marvelous way to recognize the potential of one’s health. Results from a DNA test can be useful to plan ahead (Nazaret 63). A genetic test can detect “more than 100 rare but significant genetic diseases” (Nazaret 63). The simple test can save lives. By giving a person the chance, if possible, to prevent the disease from surfacing, can also improve their overall health. These genetic tests are becoming more inexpensive as their popularity has increased over the past several years (Gomy 16). The decreasing price has been an opportunity for genetic tests to spread among the public, and it has the chance of saving many lives even before the disease or cancer surfaces.
People against genetic screening argue that, “testing violates the rights of privacy, confidentiality, and autonomous decision-making of the individual” (Grosse et al., 2009, p. 7). Autonomy is the principle of self-determination. Access to information and counseling so that an individual’s participation is based on informed consent is fundamental to achieving and maintaining autonomy (Centre for Genetics Education).
A sample of blood is taken and placed on a card and will give results in about 20 minutes. Specific bands found on the cards will signal for certain disorders
You just got the news from the doctor saying you have cancer. You stop listening to what the doctor is saying and just start to wonder, how this happened? Why did this happen? You come back to reality and he suggests if you want to take a genetic tests, telling you how you got this and from who. This helps in so many ways. They test the person’s DNA (genes) to see what single disorders the person has, for example, cystic fibrosis or phenylketonuria. If the doctors find more than one, they will offer more than “session” and do everything simultaneously. After, the doctors sees how many complications and heredity in the conditions.