Alzheimer’s Disease & Genetic Testing

Genetic testing is a practice which is becoming more and more common for people looking to learn whether they are genetically predetermined to inherit certain diseases.

Studies and technology have combined to help people prepare for the possibility that their lives will follow a certain course. These sorts of testing can alleviate uncertainty in those individuals who could inherit certain diseases.

Is there testing available for those individuals who suspect they or their loved ones may be stricken with Alzheimer's Disease? The answer is both yes and no. Scientific studies have shown there are certain genetic markers exist for diagnosing Familial Alzheimer's Disease (FAD) or early-onset Alzheimer's. Early onset cases take place in a small number of individuals. Mutations on certain chromosomes lead to the formation and breakdown of abnormal proteins in the brain that cause something called amyloid plaques, which are a hallmark of Alzheimer's Disease.

These tests can show that a person whose parents carry a genetic mutation for FAD has a 50/50 chance of inheriting the disease. While this can be promising news for those individuals who wish to have early onset Alzheimer's diagnosed; it is NOT a means to diagnose late-onset Alzheimer's Disease. The causes of late-onset Alzheimer's aren't well understood. They are thought to be some pairing of genetic, lifestyle and environmental causes. Testing is becoming available to look for risk factors for the disease. There is one risk factor that is showing some relevance in developing the disease. The apolipoprotein E gene, found on one of the chromosomes, carries the instructions for making a protein that carries cholesterol and fats through the bloodstream. However, although genetic blood testing can help scientists to track changes in the brain, it is probably never going to be a 100 percent accurate indicator of whether a person will develop Alzheimer's. There are too many variables involved.

The Alzheimer's Association does not recommend them to be used as everyday tests to diagnose late-onset Alzheimer's. If you are considering genetic testing, be sure to discuss the matter thoroughly with your physician or genetic counselor.

The results of testing should not be used as an indicator of whether someone should be granted health insurance coverage, housing, or employment, or in setting life insurance premiums. Because of the possibility of discrimination against individuals who test positive, it is best to have anonymous testing.