Genomics
Genetic testing and other advances have made it possible for patients to plan for a better quality of life, with health information that was previously unavailable. |
Genetic science is moving to the mainstream, especially in the field of medicine. In this broad discipline, genetics is fast becoming a necessary arm for the screening of certain diseases and the evaluation of viable (and possibly life-saving) interventions.
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Landmarks in Genetics
There are many significant examples of how genetics has informed medicine and helped bring on solutions. One such example is the discovery in 1959 of the extra chromosome in individuals with Down syndrome. Since then, doctors have been able to watch for the presence of this extra chromosome in amniotic fluid tests (AFTs) or amniocentesis, providing vital information for parents in assessing future health management issues.Later, the identification of 45X in Turner syndrome led to the discovery of hormone therapy as a means to alleviate some of the manifestations of the condition, particularly in females. Likewise, finding the 47,XXY chromosome has resulted in a better understanding of a condition known as Klinefelter Syndrome. Those affected by this condition have two X and one Y chromosome instead of the usual XY chromosomes for males and the XX chromosome pair for females. This condition can cause infertility and the development of intersex characteristics.
Genetics in the Limelight
Today genetic research has succeeded in identifying over a hundred gene variants that suggest an increased risk of different types of cancer. For example, recently it was discovered that having a variant BRCA gene significantly increases the risk of breast and ovarian cancer in women. Awareness of this gene increased greatly when Angelina Jolie had a preventive mastectomy after she had herself tested.The Benefits of Genetic Testing
When children show signs of metabolic and neurological disorders, genetic testing can help ascertain the condition that they are suffering from. Many pediatric disorders can be diagnosed through genetic testing by companies such as Courtagen Life Sciences; this makes it possible for families and their doctors to work on managing the health care of affected children. At the same time, diagnosis of certain disorders, such as mitochondrial diseases, will help families and their doctors explore viable treatment options.State-of-the-Art Genetic Testing
The administration of genetic testing has become relatively simple today, particularly where testing children is concerned. Modern clinics, for example, will actually provide a saliva kit for the collection of an adequate sample to be mailed for analysis. The kit, which comes with instructions, allows samples to be collected from children without any pain or trauma.Genetics has changed the landscape of diagnostics and management of hereditary diseases, and it has helped doctors choose appropriate treatments for their patients. For many individuals, genetic testing has made it possible for patients to plan for a better quality of life.
| By Anica Oaks | Embed |
Author Bio - A recent college graduate from University of San Francisco, Anica loves dogs, the ocean, and anything outdoor-related. She was raised in a big family, so she's used to putting things to a vote. Also, cartwheels are her specialty. You can connect with Anica here.
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