What Is Genetic Sequencing?

Development in personalized medicine could greatly influence the current standards of diagnosis, prognosis and treatment. The Human Genome Project guaranteed a revolution in the individualized treatment concept. Just as a person’s characteristics are unique to their genomic information, the origin to a disease could be correlated with the genomic sequences unique to that person. An advantage of such a therapeutic approach is diagnosing the possible susceptibility to a disease and preventing this outcome by providing drug therapies much before its outbreak.

Just as most bioethicists and medical professionals agree that genetic testing for curable or preventable diseases is beneficial to patients, they also agree that genetic testing for incurable and untreatable diseases, such as Alzheimer's, is useless (Hubbard & Wald, 1999; Ridley, 1999). Although a negative test may afford a person the reassurance that he or she will not develop the disease, a positive test could be a death sentence. For example, since 1986 people who are at risk for Huntington's disease have had the option of being tested for the mutation on chromosome 4 that is linked to the disease (Ridley, 1999). In Genome, Nancy Wexler, a woman who set out to identify the Huntington's gene in the late 1970s, relates the story of a woman who asked doctors whether or not she had Huntington's disease (Ridley, 1999). Although the doctors found that the woman was showing subtle signs of the disease, she could not detect these signs herself. The doctors, rather than telling the woman that she had the disease, let her believe that she was well and did not have Huntington's disease. After the woman left the doctors' office, the woman's friend came into the office and asked the doctors what they had said to the woman, because earlier the woman had told her friend that she

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.

In chapter four of her book Genetic Dilemmas, Dena Davis asserts that it is unethical for parents to subject their children to genetic testing for the markers of adult-onset genetic diseases because it places an unfair constraint on a child’s right to an open future. It both removes the child’s ability to choose whether to be tested as an adult and has the potential to negatively alter the overall trajectory of their lives. While the current consensus amongst medical professionals is that such testing should be prohibited (Davis, _____), many concerned parents correctly point out that discouraging such testing creates a conflict of interests between the “beneficence model of patient care and the rights of parents to their own autonomy”

In June of 2011, a woman entered the National Institutes of Health Research Hospital in Bethesda Maryland with a serious, but fairly routine infection; however the subsequent events were to prove anything but routine. The woman was suffering from an infection caused by an antibiotic-resistant organism, but it was a new strain, never before encountered. About a month after she was treated and discharged, another patient came down with the same infection, and then more and more. After many unsuccessful attempts to isolate the cause of the infections, the NIH eventually used a new technology, known as "Whole Genome Sequencing," to isolate the pattern of infection and bring it under control. (Melissa Block, Eddie Cornish) This process is a new way to quickly isolate and sequence the entire genome of a particular organism, which the NIH used to help identify the pattern of infection. Of the 17 other patients who contracted the infection, six died, but it was learned that the pathogen can be transmitted in ways never before seen. (Melissa Block, Eddie Cornish)

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

The HGP was a 13-year long project started in 1990 with the objective of determining the entire human euchromatic genome sequence. It was a public funded project and the goal was to complete the project within 15 years. Since its inception, the project had been met with scepticism from scientists and commoners alike. One significant doubt was whether the astounding expenditure of the project would outweigh the potential benefits from it. However, the incredible success of the HGP became apparent very soon after completion. Not only did it mark the beginning of a new era in medicine, it also made significant development in the various techniques that can be used for DNA sequencing. This publicly funded, $3 billion project began formally in 1990, under the co-ordinated effort of the United States Department of Energy (DOE) and National Institutes of Health (NIH). Although destined to be completed in 15 years, rapid technological development accelerated the completion date to 2003.

According to Chrystoja and Diamandis (2013), targeted genome testing is less costly than some traditional testing methods, is effective in assisting decision making for certain neoplastic medications and is useful in guiding the proper testing for certain diseases such as Lynch Syndrome. In addition, genetic makeup determines the pharmacokinetics of certain drugs and genome testing may assist in medication therapies. Studies indicate that genetic predisposition determines the effectiveness of 20% to 95% of prescribed medications (Bartlett, 2011). With DNA information, a physician can prescribe a tailored medication treatment that will benefit the

Studying the DNA code enables doctors to make faster and more accurate diagnoses of diseases and facilitates developing targeted treatments for patients--especially for victims of one of the many forms of cancer. One clear example of the diagnostic benefits of genomic medicine is diagnosing prostate cancer. In the past, this form of cancer was hard to diagnose and required blood work, biopsies, colonoscopies and ultrasound mapping. Genomic medicine has helped a Dutch hospital develop a prostate cancer test that only requires two weeks to diagnose the malignancy and begin a course of treatment. [3] The faster that any cancer is treated, the better the chances of recovery will be.

The sequencing of the human genome has a new approach to health care in regards to promotion, maintenance, and treatment. Genetic research is defined as a new approach to a better understanding of the genetic components of common diseases: Cancer, diabetes, stroke, and creating new gene-based technologies for screening, prevention, diagnosis, and treatment of both rare and common diseases. Nurses are a main aspect within the first line of care, and therefore will contribute fully in genetic-based and genomic-based practice activities such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. Lea, D, (January 31, 2008). My paper is based on an article Genomics in the public

In June 2000, the publicly funded Human Genome Project (HGP) and the private firm Celera Genomics Inc. announced that they had completed sequencing the human genome. This unprecedented accomplishment is expected to enable doctors to diagnose, treat and even prevent numerous genetic diseases. As these two entities worked on sequencing the human genome, there was also a separate and less publicized race to patent as many human genes as possible.

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.

Dr. Wendy Chung is a medicinal geneticist who sees patients and perform research to find answers to rare genetic condition treatment. The topic of the presentation was about precision medicine. She defined precision medicine as providing the right treatment for the right patient at the right time. And engaging the patient in a way that will enable them to maintain and improve their health and their family. Also, a cost played a key component when it came to precision medicine. Running a specialized test to run sequencing might cause financial burdensome to patients. It also depended on how an insurance plan will cover it or not. Dr. Chung indicated that the current diagnosis method was not a rational way to diagnose or to treat patients due

According to the World Health Organization, micronutrient deficiency, especially vitamin A deficiency is the “leading cause of preventable blindness in children and increases the risk of disease and death from severe infections. In pregnant women, VAD causes night blindness and may increase the risk of maternal mortality” (http://www.who.int/nutrition/topics/vad/en/). Therefore, solutions need to be derived to combat these potential problems in the future. Some of these strategies include endowment of nutrient supplements, enrichment of processed foods to contain more nutrient content, and enhancement of staple crops with increases essential nutrient contents, known as biofortification (Zhu et al., 2007).