It’s incredible that science has advanced so much that there is now a genetic test used to help assess Alzheimer’s disease risk. The US Food and Drug Administration approved the first authorized at-home test for a gene variant called APOE-ε4 in 2017. This gene variant is the strongest known genetic risk factor for late-onset Alzheimer’s disease.
Dr. Kaitlin Seibert, MD, a Cleveland Clinic behavioral neurologist who specializes in the diagnosis and treatment of Alzheimer’s disease and related dementias, explains that everyone inherits two copies of APOE, one from their biological mother and one from their biological father.
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“There are three common forms, or alleles, called APOE ε2, ε3 and ε4. APOEε2 is generally associated with a decreased risk of Alzheimer’s disease, ε3 is considered relatively neutral and ε4, commonly called APOE4, is associated with an increased risk of Alzheimer’s disease,” she says.
Dr. Seibert explains that a blood or saliva sample can reveal which two forms someone carries. “Importantly, APOE is a risk factor gene, meaning that regardless of which forms of the gene you inherit, we cannot definitively predict whether you will develop Alzheimer’s dementia based on this test alone,” she adds.
Getting tested for the APOE-ε4 variant is a big decision. Just because you want to learn more about your individual risk for Alzheimer’s doesn’t automatically mean you should take the test. You may also worry about how you may handle a positive result. Here, Dr. Seibert shares what she wants everyone to know when deciding whether to be tested for the Alzheimer’s gene or not.
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How to Decide if You Should Get Tested for the Alzheimer’s Gene
If you aren’t currently experiencing any symptoms of Alzheimer’s, Dr. Seibert says it’s typically not advised to be tested for the Alzheimer’s gene, even if you have a family history of Alzheimer’s. This is, in part, because the test can’t fully predict who will and won’t get Alzheimer’s.
Dr. Seibert says that the Alzheimer’s gene test is primarily for people with Alzheimer’s disease who are considering newer disease-modifying therapies, such as lecanemab (Leqembi) or donanemab (Kisunla). She explains that these medications remove amyloid protein from the brain and can slow the progression of Alzheimer’s disease, but they carry a risk of side effects, including brain swelling and bleeding. People with the APOE-ε4 variant are at greater risk for experiencing these dangerous side effects, which is why it’s recommended that they take the test. That way, they can weigh the pros and cons of these medications with their doctor.
Dr. Seibert adds that the gene test can also help people gain access to these medications. Without confirmation of Alzheimer’s disease using biomarkers and a detailed evaluation to determine treatment eligibility, their health insurance may not cover them.
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Are There Risks to Taking the Test?
Taking the test itself is pretty straightforward and low risk. It just requires a blood or saliva sample. Dr. Seibert feels that the emotional risks are far greater. “The bigger consideration is the emotional impact of receiving genetic information. Learning that you have an increased risk of Alzheimer’s disease can understandably cause anxiety, particularly when there is no guarantee that you will ever develop symptoms,” she says.
Dr. Seibert adds that, as with any genetic testing, there are also potential implications for family members, as well as privacy and insurance considerations. Because of this, she recommends discussing testing with a physician or genetic counselor before taking it, especially if you are generally in good health.
What a Positive Test Means
Testing positive for the APOE-ε4 variant does not automatically mean you have Alzheimer’s or will get it in the future; it’s identifying a risk factor. “Nearly one in four people carries at least one copy of APOE-ε4. For people with one copy, their risk of developing Alzheimer’s disease is approximately two to three times higher than someone without the APOE-ε4 variant,” Dr. Seibert says.
According to Dr. Seibert, between 2 and 3% of people have two copies of APOE-ε4, which increases their risk more substantially. As mentioned earlier, it also means they have an increased risk of brain swelling and bleeding with common medications used to treat Alzheimer’s.
Again, the gene test is not recommended to individuals who are not currently experiencing Alzheimer’s symptoms. But if someone who is not currently experiencing Alzheimer’s symptoms does take the test and they test positive for the APOE-ε4 variant, Dr. Seibert says the focus should be on how they can best support their brain health through healthy habits.
For someone experiencing memory or cognitive changes who tests positive for the variant, Dr. Seibert notes the next step is a comprehensive clinical evaluation, ideally with an Alzheimer’s specialist, such as a behavioral neurologist, which may include cognitive testing, brain imaging and Alzheimer’s biomarkers. This can help guide decisions on what forms of treatment are the best fit for them.
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Other Ways to Test for Alzheimer’s Disease
Remember, the APOE gene test is not solely how Alzheimer’s is diagnosed. There are other ways to evaluate one’s risk for Alzheimer’s. “Unlike APOE testing, which tells us about genetic risk, we now have biomarkers that can identify biological changes associated with Alzheimer’s disease. These include amyloid PET scans, spinal fluid testing and newer blood-based biomarkers, particularly phosphorylated tau 217, or p-tau217,” Dr. Seibert says.
She explains that these tests can help with identifying Alzheimer’s-related changes in the brain, but they cannot reveal on their own whether those changes are responsible for someone’s cognitive symptoms. “This is why dementia specialists are so important, as biomarkers are best interpreted alongside a comprehensive clinical evaluation. We don’t currently recommend routine biomarker testing in otherwise healthy people without cognitive symptoms,” she says.
When it comes to genetic testing for Alzheimer’s, what Dr. Seibert wants people to know the most is that testing positive for the APOE-ε4 variant does not automatically mean someone has Alzheimer’s or will get it in the future. A positive result just means there is a greater risk. She emphasizes that it should not be used as the only diagnostic tool to diagnose Alzheimer’s.
Whether you test positive for the variant or not, there is a lot you can do to protect your brain health as you age. “The best prescription we know of is 150 minutes of physical activity a week, a Mediterranean or MIND diet, staying cognitively and socially engaged, taking our medications for high blood pressure, high cholesterol and diabetes to optimize our heart health and aiming for seven to nine hours of high-quality sleep each night,” Dr. Seibert says.
There are so many factors that play a role in what your health will look like as you age. Genetics is only one part of the equation. Your everyday habits matter greatly, particularly when it comes to brain health. While no one can control their future completely, it’s important not to forget about the power you do have. And when it comes to what you can’t control, that’s where talking to your doctor comes in. Alzheimer’s treatment has come a long way and is continuing to evolve every day.
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Sources
Study reveals how the APOE4 gene may increase risk for dementia. National Institute on Aging. Dr. Kaitlin Seibert, MD, a Cleveland Clinic behavioral neurologist who specializes in the diagnosis and treatment of Alzheimer’s disease and related dementias. APOE Gene Test. Cleveland Clinic.Hence then, the article about should you get tested for the alzheimer s gene a cleveland clinic neurologist weighs in was published today ( ) and is available on Parade ( Saudi Arabia ) The editorial team at PressBee has edited and verified it, and it may have been modified, fully republished, or quoted. You can read and follow the updates of this news or article from its original source.
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