Huntington's Genetic Testing

   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

Every cell within the body contains this entire set of chromosomes, which have bases arranged to form a code (Appai-Kubi). The four bases, cytosine, adenine, guanine, and thymine, interact to form the fundamental structure of DNA (Appai-Kubi). Huntington’s Disease is found on the fourth chromosome, with a sequence known as the “CAG repeat,” (Appai-Kubi). In someone who is not afflicted, the number of CAG repeats ranges from 10 to 28 (Sheth). Typically, more than 35 repetitions of CAG is associated with Huntington’s Disease, however, there are cases with people having up to 39 repeats not having the disease (Appai-Kubi). As the gene is passed on through families, the number of repeats generally increases, and with an increased number of CAG repeats, the earlier the symptoms develop (Sheth). This characteristic of the disease allows it to be tested for, by testing the frequency of CAG on chromosome 4 (Appai-Kubi.) During pregnancy, a woman can test for Huntington’s Disease in two ways; either amniocentesis, taking fluid from around the fetus, or by CVS, taking a sample of fetal cells from the placenta (Genetic Learning Center). A genetic test after birth can confirm the diagnosis after a series of neurological and psychological tests (Genetic Learning Center). Huntington’s Disease is inherited through an autosomal dominant pattern; meaning that whoever inherits the faulty gene will develop the disease throughout their lifetime (Genetic Science Learning

Danville Airlines has created an ethical and legal dilemma by not being accurate, precise and clear on how they are doing medical testing, causing undue stress and potentially career-ending circumstances for David Reiger, one of their best pilots. What Danville did was illegal and unethical due to negligence. David Reiger has every right to sue them to continue flying, and the medical evidence suggests that the Huntington's disease gene can be dormant for decades before being active and changing a person's nervous system (Darden, 2004). The company has violated the 1974 Privacy Act, the Heath Insurance Portability and Accountability Act of 1996, and the 1990 Americans With Disabilities Act. As is best practice with the nascent, emerging field of genetic testing, Danville did not warn Reiger of the testing taking place, did not get his permission, and didn't even have a process in place for dealing with pilots, whom the traveling public relies on for safe transport, when they are tested positive for these types of diseases (Murry, Wimbush, Dalton, 2001). Clearly Reiger would win any lawsuit, the collateral damage to Danville being the lack of oversight and gross negligence in managing health screening.

I think that everybody should do a genetic test at a very early age in order to know what is going on with their genes. Even if a genetic test is positive, a genetic counselor, doctor, or other health care professional trained in genetics can help an individual or family understand their test results. These professionals can also help explain the incidental findings that a test may yield, such as a genetic risk factor for a disease that is unrelated to the reason for administering the test, so they can clarify the implications of test results for other family members. Doing a genetic test is crucial because on an expanded panel, certain cancer can be entirely reversed with an early intervention like dietary

8. Because Huntington's usually doesn't affect the victim until about the age of 40, they have time to have children and pass the on the gene

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.

9. Should the acts of Dr. Wyatt be considered legal? Why or why not? (4 pts)

As you can see genetic testing is very important and can affect a child's and parents lives for the better and the worst. Children all over the world have serious genetic diseases that affect their life on a daily. Some of these diseases are Achondroplasia, Down syndrome, and Turner's syndrome. Many believe genetic testing is a good way to test for these genetic conditions before the child is even born, but others think that it can harm the baby very badly and even cause a miscarriage, so they choose not to do this kind of testing. Knowing about the most serious genetic diseases is very important for expecting parents to be informed as well as being

Genetic testing has brought about many changes in the way many couples look at conceiving and raising families. Through genetic testing you are able to screen for the increased chance that a fetus may have one of many congenital disorders, or even identify gene changes that are responsible for a disease that has already been diagnosed (Genetic Testing, March 2015). Unfortunately genetic testing is not always exact, in some cases giving parents false negatives or false positive results. Even if the results are accurate, there is the burden of knowledge once you know the results indicate a genetic abnormality such as Down’s syndrome. While caring for a 2 year old male patient with developmental delays and anotia, I learned that genetic testing had been started but never completed on the child. Genetic testing could help to identify genetic disorders that led to the child’s developmental delays and possible future disorders that may develop. The ethical dilemma I will be discussing to the ANA Ethical dilemma of the impact of informed consent of genetic testing on children for adult onset diseases and disorders.

There are two main ways genetic testing places a constraint on a child’s right to an open future. The first of these is that the revelation of a child’s disease status can change his life narrative and the way parents and others treat him, and substantially alter his or her life’s trajectory (Davis _____). Parents may feel guilty or shelter their not-yet-sick

I would say if the person getting tested is over 18, they should be able to know what the test is about and the results. If they are 18, they should be mature enough to understand that the genetic test is not 100% accurate, but they need to be wary about your future.

Leighton sides with the consensus view that advocates pre-symptomatic and predisposition genetic testing for conditions that manifest in adulthood, lack treatment or are incurable should not

Although the gene chip will enable an individual to know whether he/she has a genetic disease, that person may not want to know the information. Many people are frightened that a positive finding on a genetic test will result in discrimination and ostracism because the society will consider them abnormal (Easthope 2005). The other concern is that with genetic test information one might lose or might be unable to get a job or insurance. There have been concerns that with the knowledge of one’s medical information after a gene test, he/she might suffer a psychological problem especially when the results reveal that one suffers from a terminal disease or has high possibility of suffering from one (Willis 2009).

Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally

genetic testing, everything has changed. She notes that clinicians now have the ability to diagnose, treat, and monitor a patient’s illnesses or disease progression in an entirely different manner. This is a far cry from the old medical model of responding to a disease (or defect) only after it appears, and then prescribing the recommended medication or intervention. These genetic medical advances sound miraculous and promising, but the ability to test, screen and provide early intervention does not come without many major ethical dilemmas.