Genetic Testing In Disease Prevention

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Genetic testing is becoming an important tool in identifying diseases in order to start treatment as soon as possible, thus improving the life and health of the patient. Many genetic disorders can be prevented or diagnosed immediately with new genetic testing technology.

The Importance of Genetics

Tay-Sachs (TS), Sickle Cell Anemia and Cystic Fibrosis (CF) are all genetic disorders that can be detected before birth or immediately after. The parents who are carriers of these diseases can find out if their children will be likely to inherit them. If the chances are too high, some people decide not to have children rather than take the risk. Genetics are also used to trace family members and identify dead people.

Genetic Testing and Disease Prevention

Genetic testing can predict the chances of women with breast cancer having a recurrence as well as determining whether or not chemotherapy will work for them. It can detect the likelihood of various other diseases, such as diabetes, and arthritis so that preventative measures can be taken before the actual onset of the disease.

Research and Studies

Two companies that are active in genetic research equipment are Luminex of Austin, TX, and Osmetech of Pasadena, CA., with emphasis on prenatal testing for CF. Jeremy Bridge-Cook, Luminex vice president of molecular diagnostics, says his company’s xTAG™ CF IVD was the first to be approved by the FDA for CF testing, in May of 2005. Luminex is planning to request FDA approval for a new test to examine even more mutations—70—compared to the current 39, including 23 mutations recognized by the American College of Medical Genetics and 16 others which are often found in specific ethnic groups such as African Americans and Hispanic Caucasians.


Genetic testing is a valuable method of preventing diseases as well as early diagnosis. It can be done either with blood, amniotic fluid or saliva and only takes a few hours to complete. It can detect whether a patient will have a bad reaction to certain drugs, such as Warfarin for the benefit of surgical patients. As the technology improves, more disease causing mutations will be found and better ways of preventing many of them will be available.