Harvard Health Letter

Ask the doctor: Should I consider gene testing?

Q. Alzheimer's runs in my family. Will it help to get gene testing for this disease?

A. A relatively small fraction of cases of Alzheimer's disease begin between the ages of 30 and 60—a type called early-onset Alzheimer's disease. In most people with this form of the disease, the cause is one of several mutant genes that the person has inherited from a parent. The primary genes that we know about are called PSEN1, PSEN2, and APP. If someone inherits one of these mutated genes, it is very likely (but not certain) they will develop the disease.

Testing for these genes is costly and is not usually covered by insurance. At this time, there is no treatment proven to prevent or slow the onset of the disease. Relatively few people who have close family members with early-onset Alzheimer's choose to be tested. Others, however, insist on being tested. Some want to know if they are at risk, to help make plans for the rest of their lives. For them, living with uncertainty is worse than getting bad news. Others want to know so that they can volunteer for experimental treatments designed to slow or prevent the disease.

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