Impact of Genomics in Health and Disease
The field of genomics has an incredible relevance starting from biomedical research to health care and then personalized health care to patient and their families. Over the last two decades, there has been great advances in the field of genomics, a discipline in medicine that involves a person’s genetic information and its use in the clinical practice for treatment and prevention of a disease. With the advancement in technological capabilities and addressing limitations in certain complex fields, genomic testing seems to be increasingly capable of detecting many disorders and diseases. For disorders with a suspected genetic origin, it has the potential to eventually become a universal first line
…show more content…
However, these genomes do not tend to change in one’s lifetime – and this results in a lack of insight into DNA variations.
The Human Genome Project (HGP) that was started in 1990 is an example of an effort geared towards better understanding of DNA and its role. It was based on the recognition of DNA as the hereditary material, determination of its structure and genetic code, the development of recombinant DNA technologies and methods for DNA sequencing. The success of this project predicted an evolving area of personalized medicine and disease prevention based on genomic testing for genetic susceptibilities. During the past 2 decades so much has happened in the genomics field; from primary sequencing of genes to new technologies where genomic codes are studied and catalogued to makes interpretation of genes easier. Therefore, in order to advance human health particularly in the understanding of biology of genes, biology of disease, and translation of science into medicine and healthcare practice, we have come to a stage to take more evidence based decisions. With more information and understanding of this field, the experts also hoped that pharmacogenomics would allow us to develop safe drugs and find ways for their effective use. Initially, genomic testing was offered to a patient for diagnostic purposes- for those who had some types of characteristics suggestive of specific genetic susceptibility or for predictive purposes for those individuals
An important aspect that one must look into with respect to personalized medicine is the family health history, which is an invaluable tool reflecting upon a person’s genetic risk factors
Genetic testing is a medical test of one’s DNA that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition which can help determine an individual's chance of developing or passing on a genetic disorder. In addition, knowing one’s genetic code can help individuals improve their wellness, prevent the onset of diseases they are at risk for, or lessen the harmfulness of diseases they do contract. NOVA’s documentary on PBS, “Cracking Your Genetic Code” demonstrates what exactly genetic testing is, how genetic testing is performed, and in addition the film showed stories about some individuals that have benefited from these special DNA techniques. The film plot focuses
The inclusion of genetic testing into Electronic Health Records impacts the overall healthcare of patient’s because it informs the physicians and other medical professionals the selection of effective treatment or preventive action. A manager’s responsibilities are to implement policies to protect the confidentiality, privacy, and security of genetic tests results and information of patient’s. Policies contributing to potential discrimination acts are also advised because genetic/genomic testing reveals a patient’s physical characteristics.
Embryonic screening allows for the elimination of inherited diseases before birth or a treatment plan before birth. In breast cancer patients, genetic testing allows the physician to know if chemotherapy is necessary, which would expand treatment options. Genetic testing could eliminate years of experimental testing and medication use used to diagnose a new disease. Overall, genetic testing is in alignment with the core medical philosophy that early prevention leads to early treatment, which leads to an overall better outcome for the patient.
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
As a result of the funding for such testing, many believe the breakthrough for curing diseases is around the corner. The decision is whether or not America wants to take a step forward and progress their knowledge in medicine. Nobody agreed it would be easy, but as any other advancement in medicine, one must concur the future is near. Ultimately getting a specific drug tailored to your genetic sequence might be helpful to possibly eradicate and possibly cure deadly diseases and disorders. Within the past few years, many breakthroughs in medical advancements came through as some neurosurgeons complete brain surgeries while the patient is awake. Such testing poses crucial features to preventing things from going wrong. Similarly, being provided with the needed tools, one can hope the next step is toward cures for age-old monstrosities. Although not being enforced, many doctors are willing to refer their patients to get their genes tested. Next time a visit to the doctor’s office is scheduled, feel free to ask about a glimpse into what your future
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,
First, human medical advances are discovered each day. One way of achieving these goals are comprehending the human DNA and how it functions. Another scientific approach is to uncover the potential key to the genetic break down that causes biological aspects to human diseases. The encoding of this information could give insights of the causes and may allow advance medical treatment to intervene earlier in the disease pathways and possibly find a cure. These advances may be the significant aspects to regulating
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.
In this biotechnology era, one of the most significant scientific accomplishments has been the completion of the Human Genome Project, which provided us with the necessary tools to access, understand and use our genetic information. All the advances made up to date have opened the doors to new approaches in practicing medicine and health care since genetic testing allows determining the presence of certain markers (genes) that enhance the probability for a patient of developing a genetic condition (Béatrice Godard). Likewise, genetic testing helps in some cases to the early diagnosis and proper treatment of the disease. However, a growing fear and debate about
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,
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
Defining the clinical scenario for use of the genetic test for example diagnosis, disease, risk assessment, and prognosis. Preparing brief summaries of identified tests using disorder / test / clinical, scenario format and this is done by CDC-based EGAPP staff
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.
Exploration into the function of each gene discovered will continue well into the 21st century. The knowledge gained from this will lead us to better understand the cause of genetically related diseases. Having the ability to recognize the causation of a disease will shift technology from trial and error treatments to specific drugs designed to treat the gene sequence and protein structure. This is called gene therapy and is the most exciting aspect of the HGP. It gives the