Genetic Testing and Screening Essay

One of the benefits of prenatal screening is to enable early detection of the developmental defect embryology. This embryology developmental defect may be due to the mutation or genetic inheritance. Mutation is a condition characterized by permanent change in the DNA sequence that makes up a gene. It can range in different sizes from a single DNA building block (DNA base) to a large segment of a chromosome. On the other hand, genetic inheritance is a condition whereby parents pass traits such as height and other characteristics to the children by chromosomes. “Sonograms, genetic tests and a new test called pre-implantation genetic diagnosis -- which is a genetic test conducted on embryos for people attempting pregnancy through in vitro fertilization -- allow women to better predict if the infant will have a genetic defect” (New York Times Magazine, 2006). Thus thorough these tests, medical practitioners are able to identify and make early preparation toward any abnormalities of the fetus.

The medical advances being made feasible by genetic testing are very exciting. It is possible for people with predispositions for genetic defects to know in advance if they will have a healthy child or not. If they find out there is a problem they can choose to terminate the pregnancy or they can prepare in advance for their child's special needs. There is even new technology called Ex Utero genetic testing. This test is performed on eggs fertilized through in vitro fertilization before they are even put in the mother's uterus. Understanding genes in the developing human will help doctors understand the nature of genetic diseases and may lead to countless other medical breakthroughs. Though it is probably a long way off doctors may one day be able to manipulate genes. If this is possible some genetic problems may be cured.

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.

Genetic profiling is a contemporary issue relating to the individual and technology which restricts access to unbiased decisions and privacy. Genetic profiling interferes with the individuals bodily, genetic and behavioural privacy, as it can be used for the benefit of identifying bodies to using the results of a DNA test to choose whether to employ one individual over another, due to future concerns. It can easily be argued that genetic profiling is in the need of law reform as a result of legal implications and the lack of individual’s rights.

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.

The BLS states that the employment outlook for the genetics counseling field is quite promising. They project it to grow at 29 percent until the year 2024, which is much faster than average. Keep reading to learn why the employment outlook for this exciting medical field is so good.

Genetics has become a very important topic of discussion in the healthcare field. There are more and more diseases being linked to certain genes in the DNA. Carrier: Untangling the danger in my DNA, by Bonnie J. Rough, is one example of the modern problems people have to deal with in regards to genetics and genetic testing. The author writes about the problems she faced. She had some very difficult decisions about her possible offspring as well as herself. Rough writes about her struggle with deciding if she should get a genetic test for a gene that causes a disease that has been passed on through her families for generations. The reader also learns about her and her husband’s experience of getting pregnant and the steps they took to try

Genetic testing has become a highly controversial issue among both the general population and the scientific community. It is a process that exposes a person’s entire genome sequence, allowing it to be read and evaluated to identify potential risks for genetic diseases or diseases that could be passed onto offspring (Holt Productions, 2012). With thousands of genetic tests already being used, and more being established, it seems logical to put this growing technology to use. Some agree that it is a person’s right to know and understand his or her genetic makeup. However, others argue that, despite the benefits of genetic testing, caution should be used to carefully inspect the risks associated with this new technology.

Prenatal testing and genetic testing developed hand in hand. Many genes, the basic unit of heredity, are now known through the human genome project (Pence, 2011, pp. 273-274). Genetic testing can identify the existence of genes that carry potentially life impacting and threatening conditions. However, prenatal genetic testing can determine much more than simply the abnormalities or negative factors. It can indicate sex, hair and eye color, temperament,

relatively rare single-gene or chromosomal disorders. But as result of advances in molecular medicine, genetics is now able to provide information about more common and accordingly more costly diseases such as Alzheimer’s disease, cancer, and coronary artery disease. It is the predictive ability of genetic tests for these diseases that makes them especially intriguing in adopting a preventive medicine approach and reducing overall healthcare expenditures.

Genetic counseling is for older child bearing mothers seeking counseling for the best course to take with giving birth. In most cases this is for older women who are becoming mothers. It is common that the baby could be born with a hereditary disorder and genetic problems due to the mothers high chromosomal abnormalities. As a young mothers pregnancy it is 1 in every 200 pregnancies to have this problem, for older mothers the rate is 1 in every 20 pregnancies. (schonberg&tifft, 2007) Some disorders for the baby are common and controllable, such as blood disorders. But there is also high risk of premature birth or miscarriage. These extra genes include diseases like cystic fibrosis, muscular dystrophy, Huntington disease, and nervous system

I primarily chose this topic because initially had no idea about genetic counselling, in fact, I did not even know that there was such a thing. The field of genetic counselling is quickly expanding especially in this new found era of genomic medicine. Genetic counselling is very pivotal in clinical health care, education as well as for providing emotional support for individuals and families that are facing the uphill tasks of dealing with genetic and inherited diseases. Genetic counsellors help by providing services to patients as well as to the families of patients who are at risks of inherited diseases. They assist in genetic testing, counselling diagnosing as well as giving information on how to prevent and manage diseases. Furthermore, they also offer ethical guidance so as to help patients stay informed about health care as well as reproductive decisions. This research paper provides a review of genetic counselling and the role it plays in at the front lines of genetic health, the impact it has on medical research, patient care as well as in education.

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.

People who may be especially interested and advised for testing might include couples with a family history of genetic disease, those that might have a birth defect, pregnant women over the age of 34, couples who already have a child with a genetic disorder, and couples concerned about specific disorders that occur more frequently within their ethnic group (March of Dimes 1997).