Ways to Test for Genetic Diseases

As medical technology continues to offer new and innovative methods of detecting and treating disease, gene testing has become a hot topic in many areas of the medical community. Medical science continues to push the envelope of modern disease detection and treatment and genetic testing offers great promise for genetic disease prevention in the future.

Diagnostic, Predictive, and Pre-Symptomatic Genetic Testing

• Diagnostic testing aims to detect genetic abnormalities in patients to determine if an underlying genetic problem is causing illness and often to determine if the possibility exists that a genetic disease may manifest in the patient's lifetime. Primarily used to treat or manage a genetic disorder, diagnostic genetic testing is one of a variety of genetic tests in use today.

  Predictive and pre-symptomatic genetic testing tests individuals to determine the specific probability a patient has in developing a genetic disorder. A predictor of a patient's predisposition of developing a genetic disease, predictive and pre-symptomatic genetic testing enables individuals to make decisions about their lifestyle and health care before the disorder begins to manifest through symptoms, allowing an increased ability to potentially treat the disorder or prepare for the initial onset of the disease.

Carrier Testing

• With carrier testing, the objective is to prevent the potential for passing a genetic variations on to an individual's offspring. In patients determined to be carriers of a genetic variant that has the potential to cause a genetic disorder, often the individual shows no signs of having the genetic disorder. The benefit to carrier testing is evident in allowing an individual to determine the potential, as a carrier of the genetic mutation linked to certain genetic disease, that offspring may inherit the genetic disorder or become a carrier as well.

  In many cases, the offspring of individuals who carry the genetic mutation that causes the disease have a higher probability of developing the disease. Carrier testing prevents the unknowing passing of genetic deficiencies to an individual's offspring and allow couples the ability to determine the likelihood of having offspring predisposed to a particular genetic condition.

Prenatal and Pre-Implantation Genetic Testing

• Prenatal genetic testing allows parents-to-be the ability to determine offspring's potential exposure to genetic diseases as a fetus. Offered during the mother's pregnancy, prenatal genetic testing allows parents to prepare for the challenges that lie ahead in caring for a person predisposed to the threat of developing a genetic disorder. Pre-implantation genetic testing, used in conjunction with in vitro fertilization, goes a step further than prenatal testing by allowing parents-to-be to determine the potential for genetic disease before implantation of embryos.