What is Genetic Testing?

Genetic testing is a blood or saliva test that looks at the genes you inherit from your mother and your father. A genetic test result can help confirm or rule out a disease or chance of developing or passing on a genetic disorder. A genetic test result can help the doctor select the best medicine and treatment for a disease and manage future risk. A genetic risk assessment, reviewing the personal and family history, is done prior to genetic testing to determine the type and appropriateness of the genetic test.

Should I have a Genetic Test Performed?

Genetic testing has benefits as well as limitations and risks. The decision to have genetic testing is personal and complex and must always be voluntary. Due to the ever-changing world of genetics, an expert with specialized training in genetics and genomics should provide information about the pros and cons of the test and discuss the social and emotional aspects of testing. They can help the patient understand the result and implications of genetic testing that can be difficult to interpret.

What Can I Expect During a Genetic Test at Blair Gastroenterology Associates

Blair Gastroenterology offers genetic testing for various genetic or inherited diseases. Hereditary Hemochromatosis, Celiac disease, Alpha-1-Antitrypsin Deficiency, and Hereditary Colon Cancer are a few diseases that can have a genetic component. A certified Genetic Clinical Nurse, or GCN, does the genetic risk assessment prior to any testing. This includes a detailed personal and family history assessing hereditary and nonhereditary disease risk factors. The Genetic Clinical Nurse assures that the patient understands all aspects of the genetic test to make an informed voluntary decision to proceed or decline testing. The Genetic Clinical Nurse also coordinates care for future medical management. Further questions about genetic testing can be directed to Bonita Mazzei BSN, RN, GCN at 814-946-5469 ext 234.

Blair Gastroenterology Offers Genetic Testing for a range of Diseases and Disorders

Hereditary Hemochromatosis

Hereditary Hemochromatosis is an inherited disease that causes an inability for your body to regulate its iron absorption. If diagnosed, this disease is easily and effectively treated. But if left untreated, it can cause severe organ damage. Symptoms may include abdominal pain, chronic fatigue, and lack of energy, joint pain, and weakness.

Celiac Disease

Celiac disease is an autoimmune disorder that affects the small intestine and is caused by a reaction to gluten. This can lead to damage to your small intestine and can cause your body not to absorb nutrients properly. Symptoms may include diarrhea, abdominal distension, fatigue, and loss of appetite.

Alpha-1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency is an inherited condition that can increase your risk of lung disease and liver disease. This deficiency can cause Emphysema and Cirrhosis. Lung related symptoms might include shortness of breath and wheezing, lung infections, tiredness, chronic cough, and weight loss. Liver related symptoms might include debilitating fatigue, bruises, itchy skin, sudden weight loss or gain, blood in the stool and disorientation.

Hereditary Colon Cancer

Hereditary Colon Cancer is the result of an inherited cancer predisposition. Symptoms may include anemia, changes in stool consistency, constipation or diarrhea, continual urge to defecate, rectal bleeding or blood in the stool, weakness or fatigue, and unexplained weight loss.