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Genetic Testing

Many gastrointestinal diseases are inherited or have a genetic predisposition to a GI disease.

Genetic testing is used to identify patients at risk. The results of testing can help determine the diagnosis and guide treatment decisions.

Patients with hereditary gastrointestinal cancer syndromes are at high risk of developing one or more cancers in several organs.  Identifying these patients is essential so that they can be offered screening to prevent or detect cancer at its earliest stage and to employ measures to reduce the risk.

Genetic testing in gastroenterology involves analysis of a person’s genes for disorders related to the digestive system, such as colon cancer, some types of stomach cancer, and familial pancreatic cancer, inflammatory bowel disease, metabolic liver disease, hemochromatosis, hereditary pancreatitis, celiac disease, and Wilson’s disease.

Genetic testing may provide information about prognosis and treatment options and help your specialist at Gastroenterology Associates Brooklyn manage patients more effectively.

In some cases, genetic tests can determine if a person has inherited a genetic mutation from their parents that increases their risk of developing certain gastrointestinal conditions. For example, testing can reveal familial adenomatous polyposis (FAP), an inherited condition that greatly increases the risk of colorectal cancer. Genetic tests can also reveal mutations associated with Lynch syndrome and other hereditary colon cancer syndromes. In cases like these, a positive genetic test will allow for more aggressive and frequent screening as compared to the general public.

In other cases, genetic tests are used to support the diagnosis of an existing gastrointestinal disorder or to provide insight into its severity and prognosis. For example, if a person is suspected of having inflammatory bowel disease (IBD), such as Crohn’s disease or ulcerative colitis, testing can reveal which type of IBD it is and what treatment options may be most effective.

Genetic testing can also provide insight into a person’s response to certain medications, such as biologic drugs used to treat Irritable Bowel Disease. By identifying genetic variations in the genes associated with drug metabolism, physicians can determine which patients may need higher or lower doses of certain medications.

If your Gastroenterology Associates of Brooklyn clinician decides that genetic testing is in your best interests, they will discuss this with you. The process of genetic testing can vary, depending on the type of test being done and the condition being tested for.

Generally, your Gastroenterology Associates of Brooklyn clinician will take blood or tissue samples from you and send them to a laboratory for analysis. The laboratory will examine your DNA for specific mutations associated with various gastrointestinal disorders.

Genetic testing can be a valuable tool in diagnosing and managing gastrointestinal disorders. However, it is important to remember that genetic test results are only one piece of the puzzle when it comes to determining a person’s health status. Other factors such as diet, lifestyle, and environment also play an important role in a person’s overall health. It is important to discuss all of these factors with your Gastroenterology Associates of Brooklyn doctor when making decisions about your health care.