Human Genetic Screening
Human genetic screening is a process that is very complex and very powerful. Genetic screening may detect some inherited traits that may later on cause a person to have a disease that may alter his/her life. Human life, as with any other organism, is b uilt with cells. A human cell consists of forty-six chromosomes, which are paired into twenty-three different pairs. Each one of these chromosomes carries thousands of genes. Each gene consists of information that codes for a particular trait. This information is determined by the DNA found in that gene. A gene for one trait may have various alleles that will make one person appear a little different than that of a person with a different allele. An example would
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The third type is the chromosomal aberrations. This type is caused by abnormalities of chromosomal structure or numberÓ (Griffiths, p. 5-6).
With the information that researchers have found studying the DNA patterns of those with certain diseases, they now may be able to determine if a person carries the trait that is found in common in these diseases by taking a sample of his/her DNA. ÒGenetics tests include techniques to examine genes or markers near the genes. Direct testing for diseases such as cystic fibrosis and sickle cell anemia come from an analysis of an individualÕs specific genes. A technique called linkage analysis, or indirect testing, is used when the gene cannot be directly identified but can be located within a specific region of a chromosome. This testing requires additional DNA from an affected family member for comparison. Genetic testing results depend both o n reliable laboratory procedures and accurate interpretation of results. Tests also vary in sensitivity, that is their ability to detect mutations or to detect all patients who have or will get the disease. When interpreting the results of any genetic t est, one must take into account the probability of false positive or false negative test results. Special training is required to be able to analyze and convey information about genetic testing to affected individuals and their familiesÓ (Web site: #).
Genetic screening
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
The view over genetic testing starts with establishing necessary definitions and discussing its purpose in our world. To start off, the human body is a complex multicellular system. Every cell in the body is comprised of the same DNA (with some exceptions), which stores our genes. These genes are the set of instructions that encode the proteins necessary to create and maintain the human body. The issue is that some genes can undergo a variety of mutations during development that cause an array of complications or disease. Gene therapy can modify the designated abnormal genes to reach normalcy, while genetic engineering focuses on enhancement and surpassing what is normal. However, the goal of genetic testing is to identify the abnormalities
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 when tests are done on the blood and other tissue to find genetic disorders in an individual. It is used as a healthcare tool to detect gene variants associated to a certain disease or disorder, and is used non-clinically for paternity testing and forensics. There are many different methods of testing, usually done with a blood sample. Other methods include diagnostic testing, carrier testing, prenatal testing, pre-implantation genetic testing, newborn screening, pharmacogentic testing, and a few others.
Genetic testing identifies changes in ones genes and chromosomes. These changes often lead to diagnoses of conditions, disorders, or diseases. Through testing, “one can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or
Genetic testing, can affect a person’s life in many ways. Genetic testing is a type of medical testing that identifies changes that occur in chromosomes, proteins, and genes. These changes that occur can be associated, and often are associated with inherited
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.
Linkage testing is a type of indirect DNA testing used to narrow in on the location of a disease-causing gene within a family. It is typically used when the gene for a condition is undiscovered or when a family is thought to have a rare or unique mutation. Linkage can be used for diagnostic, carrier, and prenatal testing. (Genetics and Social Science, 2017).
Genetic screening is done with RFLP analysis. RFLP stands for Restriction Fragment Length Polymorphism. RFLP analysis is used to find an identifiable pattern of fragments (an RFLP) that indicates a genetic marker. The genetic marker is unique and is inherited in all people with a disorder or disease. The RFLP comes from a strand of DNA near a suspected gene location that has been cut with a restriction enzyme into smaller pieces. The pieces of DNA are separated using gel electrophoresis into their distinctive bands. The RFLP is a distinctive pattern of the fragments in the gel. All people with the disorder or disease have the RFLP pattern, it is written in stone or in this case, DNA. DNA bands are studied to determine if a person has a disease, is a carrier, has no prior deposition to the disease, or if they will develop the disease in the future. A detailed human map is being developed by scientists worldwide who are contributing information to the human genome project. The human genome project is an attempt to map out every gene on every chromosome of the human genome. It is going slowly, but growth in knowledge of the genome is growing exponentially every year. Along with the growth, we are accumulating knowledge about more
These results may also help doctors make recommendations for treatment or monitoring, and give people more information for making decisions about their and their family's health, allowing them to take steps to lower his/her chance of developing a disease. For example, as the result of such a finding, someone could be screened earlier and more frequently for the disease and/or could make changes to health habits like diet and exercise. Such a genetic test result can lower a person's feelings of uncertainty, and this information can also help people to make informed choices about their future, such as whether to have a baby or
The Goal of the Human Genome Project is to obtain genetic mapping information and to determine the complete sequence of all human DNA by the year of 2005. The project started in 1990 and 180 million dollars are being spent on it annually. This adds up to a total of over 2 billion dollars for the 15 year budget. Of this 2 billion dollars budgeted, 5% is spent annually on the ethical, legal and social issues. This report focused on some of these issues.
While most babies are born without a genetic issue, around 3-5% of babies are born with a birth defect (Genetic Screening). Genetic Testing is the scientific ability to study the mutations and changes in chromosomes, genes, and proteins in human DNA. There are currently more than 1,000 genetic test in use today and more are being developed every day (Genetics). Most tests can test for Down 's Syndrome (Trisomy 18 and Trisomy 13), Autism, Spina Bifida, Cystic Fibrosis, and many more genetic conditions. Even though Genetic Testing is an extraordinary
To an extent, most diseases are related back to the genetic makeup you are born with. For example, your genes can influence your risk for certain degenerative diseases from osteoporosis to Alzheimer’s disease, cancer and diabetes or even something as simple as the common cold (“Direct-to-consumer genetic testing kits”, 2010). Your genetics can also determine how susceptible your body is to infections, allergic reactions, or how your body breaks body nutrients and drugs (Direct-to-consumer genetic testing kits, 2010). Due to scientific and technological advancements, it not now possible to predict your unique risk for certain diseases and how to prevent them through at home genetic testing kits (“Direct-to-consumer genetic testing kits”, 2010).
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,
One example of genetic screening currently used, is screening for the defective breast cancer (BRCA) alle les. In addition to the genetic screening process, an individual undergoes several counseling sessions. The step by step process of individual genetic screening starts with isolation of an individual's DNA. DNA may be isolated from tissue cells, blood cells, or urine of a child, adult or fetus. The segment of DNA which contains the gene of interest, is th en amplified through the use of PCR (Polymerase Chain Reaction) with primers specific to the segment of DNA. The amplified segment of DNA is then sequenced and analyzed for changes which cause the particular disease. If changes are present, the individu al has a greater likelihood of getting the disease.