Determining Genetic Disorders with Blood Tests

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

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, 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

Genetic testing is normally used to determine if a person is carrying a specific mutated or altered gene which can cause a specific medical condition. JL’s parents would benefit from this because genetic testing would determine how likely it is that JL’s parents are to pass on the same mutated gene to another child. This would also determine if the mutated gene was inherited from the parents of weather or not it was a result of a random mutation.

Results provided through genetic testing enables doctors to be more informed in terms of their patients; allows regular screening practices, or treatment planning at early stages.

Everyone stands to benefit from the developments made in the field of genetics as everyone is made of genes. Genetics is the study genes and how they influence human biology. Genes are the molecular unit of inheritance found in cells, these genes encode everything about human physiology ranging from eye/hair colour to height, possible mental/physical disorders and so on. The field of genetic testing is concerned with advancements in the study of the functions of individual genes and how they influence living things. Major advances have been made in the study of the genetic structure of humans and external influences to our internal makeup, such as our quality of life and their implications that may have on our physical and mental development.

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

Genetic testing identifies changes in the DNA of specific genes to evaluate the genetic health of an individual. Some genetic variants suggest that a person may have an increased risk of developing certain diseases. Other genetic variants may affect the action of particular drugs. Reactions to drugs constitute a serious health problem across the world. Adverse drug reactions are the fourth leading cause of death in the U.S. Research suggests

Genetic testing existed even before the commencement of the Human Genome Project but has rapidly increased in its abilities with the newly discovered information the project provides. The US Task Force describes genetic testing as "the analyses of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease related genotypes, mutations, phenotypes, or karyotypes for clinical purposes" (Zimmern, 1999). Prior to the advances in genetic testing technology diagnosis of disease was "based upon observation of the patientís condition, supported by the results of laboratory tests on blood and tissue samples" and sometimes a family history study (Mehlman, 1998). Now genetic testing doesnít require such extensive searching. It is possible to detect the presence of or probability of developing genetic disorders. "Diseases amenable to genetic testingÖinclude heritable conditions, acquired genetic conditions and diseases caused by infectious agents" (Mehlman, 1998).

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

Genetic testing is a medical test that can find and identify changes in proteins, genes or chromosomes. Using a genetic test can confirm or deny a suspected genetic condition, as well as to help determine a person who is possible of carrying on a genetic condition.(NIH, 2016)

People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. Also, a patient may feel guilty and worried when they learn that they passed on an abnormal gene to his/her children. Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time.

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.

The testing looks for variations within large segments across the totality of genetic material both within and outside the known functional genes of a person. For ex, if its cancer, the testing is done on the cancer tumor itself. This testing provides you and your doctor specific information on how this particular tumor is behaving – whether it is destructive and needs aggressive treatment or is it smaller one and growing at a slower pace and needs milder treatment.

This would mean that this testing would be more affordable for the commoner. Once testing has been completed and data interpreted, someone will know if they are a carrier for a genetic disorder. If it turns out that they are, instead of waiting for symptoms to arise, genetic treatment of the disease can be done to save the person’s life before it is even in jeopardy. This could prove to be very helpful. People spend thousands of dollars on treatments for a genetic disorder, and the treatments do not even fully rid the patient of the disease. The patient will have to take the medication for the rest of their life to calm the symptoms of that disease. With the advancement of gene therapy, a patient could receive a minimal number of treatments which will not just calm the symptoms but rid the patient of their genetic disorder completely. This, in the long run, could save the patient time, money, suffering, and ultimately it will save their life. This is only the beginning. As time passes, doctors will have the knowledge to save many more lives in the same manner.