Genomics  

Genetic testing provides benefits for individuals and families by identifying increased risks of disease, potential interventions when disease is present, and also to determine the efficacy of ongoing treatments.

DNA testing is often associated with determining the parentage of a child and the guilt or innocence of a defendant in criminal cases. However, genetic testing provides benefits for individuals and families by identifying increased risks of disease, potential interventions when disease is present, and also to determine the efficacy of ongoing treatments.

Family Planning

Genetic testing, which includes analysis of DNA, RNA, enzymes and proteins, can be an important resource for family planning. Couples may benefit from genetic testing to determine if they are carriers for certain gene mutations that are identified with increased likelihood of developing disease. A specialist at Courtagen Life Sciences can also help with gene sequencing. While an individual carrier may not exhibit symptoms of a disease, their offspring will inherit genes that may lead to the development of symptoms of the disease. 

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Prenatal Diagnosis

Prenatal diagnosis through DNA testing is performed on the fetus to determine the presence of disease or changes in the fetus' genes and chromosomes that may indicate disorders before birth. Amniocentesis, one type of fetal genetic testing, is performed in vitro by obtaining a sample of amniotic fluid, typically after 15 weeks of pregnancy. Prenatal testing may indicate genetic abnormalities responsible for diseases such as Down Syndrome. Chrorionic Villus Sampling, performed after the 10th week of pregnancy, uses material from the placenta to test for genetic abnormalities.

Early Detection of Disease

Newborns in developed countries typically receive DNA testing within one to two days after birth to screen for certain illnesses or health risks. Determining health vulnerabilities early provides a better outcome when treatment strategies can be applied before symptoms are prevalent. Additionally, when genetic mutations or abnormalities have been identified early, monitoring changes over time may indicate the development of disease that otherwise may go undetected. 

Personalized Medicine

Pharmacogenomics, a type of DNA testing associated with personalized medicine, provides benefits when treatment for disease has already been implemented. Information about an individual’s potential reaction and response to certain types of pharmaceutical interventions may determine changes in treatment protocols. While one treatment may prove beneficial to one individual, the same treatment may prove ineffective or detrimental for someone else depending on his or her unique genetic makeup.

As new developments in DNA testing continue to inform scientists and medical professionals about the causes of serious diseases such as Diabetes and Alzheimer’s, increased opportunities arise for individuals and families to take a more proactive approach to disease prevention and health maintenance.

By Rachelle Wilber

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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

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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.