The Doctor is In

Damon Raskin, MD
Photo by Rich Schmitt/Staff Photographer

By Damon Raskin, M.D. | Special to the Palisadian-Post

Adam was a 37-year-old patient who came to see me for the first time several months ago for a general checkup. He was extremely healthy, exercised regularly and ate healthy foods.

In discussing his concerns, his biggest worry was that he was going to get Alzheimer’s disease because three out of his four grandparents developed it in their 70s. He wanted to see what I thought about doing genetic testing, like the “23 and Me” genetic profile, to see if he was doomed to get this disease and what other mystery illnesses could be in his DNA. He spent a lot of time worrying about this.

This is just one example of many similar conversations that I have with patients every week. Unfortunately, there are no easy answers, and my responses have to be individualized and carefully crafted to the needs of the patient.

Genetic tests usually do not give precise answers about inherited diseases. Testing can only tell you if you have a specific gene mutation, not if you will get a particular disease. A positive test result does not always mean you will get the disease. The test can tell what might happen, but it cannot tell what will happen.

On the other hand, a negative result does not mean you have no risk of getting the disease. Risk can also change over time due to lifestyle choices or simply getting older.

These genetic tests provide only limited information about inherited conditions, but won’t tell anyone how severe the condition will be or whether the disorder will progress over time. In addition, there are some inherited disorders that can be looked for but there are no specific treatments once they are diagnosed. That may lead to unnecessary worry and anxiety for years … patients constantly living a life in fear that the axe could fall anytime.

With strong family histories of cancers—such as breast and colon, for example—I will often have the discussion of genetic testing for abnormal mutations that could lead to patients changing habits, and more frequently surveilling themselves for earlier detection. In some cases, patients may go as far as having prophylactic surgeries to prevent the possibility of getting cancer.

With other possible inherited disorders, such as Huntington’s disease, this could impact family planning and allow patients to make important decisions about their future. When it comes to Alzheimer’s disease, there is a form that can be inherited. But again, this gene just increases one’s risk, not dooms him or her to get the disease. You can see how the conversation can get quite complicated with patients.

After much consideration, Adam decided to get tested, and he found that he had not inherited any gene that would predispose him to developing dementia. For him, it was all about relieving his anxiety and it made sense.

There are also genetic counselors that specialize in having these discussions with prospective clients, especially prior to getting pregnant. I encourage anyone interested in getting these tests to first sit down with your doctor to understand your risks based on your personal family history. Then, decide if the risks of finding something out are clearly explained to you so that you can make an informed decision.