Should you get genetic testing for Alzheimer's? BABES founder Jamie Tyrone shares her insight.
When Jamie Tyrone found out that she has two copies of the ApoE4 gene nine years ago, greatly increasing her risk of developing Alzheimer’s, she said that a researcher suggested she shouldn’t discuss her results because she might be discriminated against when it comes to insurance and medical records.
“That was very silencing,” said Tyrone. “But now, we’re talking about it, and it’s so important,” she said.
The founder of the Alzheimer’s awareness organization Beating Alzheimer’s By Embracing Science (BABES), Tyrone now works to ensure that those who are considering genetic testing feel prepared so that they don’t feel isolated or depressed after getting surprising results—emotions she grappled with after getting tested without being advised to consult a genetic counselor first.
Proudly referring to herself as a “lab rat,” Tyrone is now a research participant at the Banner Alzheimer’s Institute in Phoenix, Arizona. By participating in clinical trials, she hopes she can help prevent future generations from developing Alzheimer’s.
Being Patient spoke to Tyrone about the ApoE4 gene, whether or not people should consider genetic testing, the importance of getting a genetic counselor, and what it’s like to participate in a research trial.
Some key takeaways:
- Those with one copy of the ApoE4 gene have a three-fold higher lifetime risk of developing Alzheimer’s, while those with two copies (one from each parent) have a 91 percent lifetime risk of developing the disease
- People with two copies of ApoE3 do not have an elevated genetic risk of developing Alzheimer’s, while having one or two copies of ApoE2 could decrease someone’s genetic risk of getting Alzheimer’s
- Those considering genetic testing should ask themselves why they want to be tested and how that information would change their life
Watch the full talk and read a transcript of the conversation below.
Being Patient: How did you find out that you are at risk for developing Alzheimer’s disease?
Jamie Tyrone: Nine years ago, I volunteered to be a participant in a study. The premise of the study was the following: If you knew you had a genetic risk of developing certain diseases, would you change your lifestyle? Alzheimer’s wasn’t even on my radar, even though it ran in my family. My father, grandmother, great grandmother and two great uncles had Alzheimer’s. I had it on both sides of the family. I was having some neurological issues so I was looking for my risk for multiple sclerosis.
One night, I was on my computer and received the results of the testing. It came back that I had two copies of the ApoE4 gene, which puts me at a huge risk for Alzheimer’s disease. I know there’s some question as to what exactly the risk is, but the testing was done without any genetic counseling at all, and I was really thrown off. I figure that if I had gone through genetic counseling, the genetic counselor would’ve been able to filter through why I wanted to do this testing.
They could’ve looked at my family history, realized that I was at a high risk and asked me what my motivations were for knowing this information.
“One night, I was on my computer and received the results of the testing.
It came back that I had two copies of the ApoE4 gene, which
puts me at a huge risk for Alzheimer’s disease. I know there’s
some question as to what exactly the risk is, but the testing was
done without any genetic counseling at all, and I was really thrown off.”
Had I interacted with a genetic counselor, I think I would’ve been much more prepared for this information. It was very, very shocking to me and I ended up going through a deep, dark phase of my life because at that point in time, there weren’t any support groups. We’re getting a lot more information, but at the time, it was just very, very minimal.
Being Patient: Some people argue that there’s a 90 percent chance of developing Alzheimer’s if you have two copies of the ApoE4 gene. Is that correct?
Jamie Tyrone: My understanding is that it’s a 90 percent lifetime risk. The age they equate into this lifespan is 85 years old. When I turn 85, some findings suggest I have a 90 percent chance of getting Alzheimer’s disease. I may never get it, but considering my family history and the genetics, we don’t even really know how much changing my lifestyle would decrease my Alzheimer’s risk—at least based on my genetic status. Will lifestyle changes push the diagnosis back by five years? There are some great studies that are coming out and trying to answer this question, but now, I always wonder how much giving up my nightly glass of wine will decrease my Alzheimer’s risk.
ApoE4 is about time of onset. If you have one copy of a 4, your onset will be later than someone who has two copies. The average age of onset for homozygous patients—or those who have two copies of ApoE4 is about 63–65. I’m 57 years old and studies show that I’m likely already building up plaque in my brain. There is a group that is very active in their 80s, have two copies of ApoE4 and have no symptoms of cognitive impairment. So it doesn’t mean my genetic status is a death sentence at all.
Being Patient: Now that you know you’re E4 homozygous, would you want to know this information? Why or why not?
Jamie Tyrone: No. I have had to live with the anxiety of knowing. Every time I have a brain hiccup, I think, “Oh my goodness, I’m getting Alzheimer’s disease.” I’m experiencing cognitive changes that are associated with normal aging, but because I got these results, I always have a fear that I could be getting Alzheimer’s in the back of my mind.
There have been positive things that have come from these results, though. In my opinion, the only argument for knowing your status is so that you can participate in research. Because if you know you’re at an increased risk, then there’s something that you can do. I’m participating in a research study at the Banner Alzheimer’s Institute. I’m hoping we will help the next generation not get Alzheimer’s. They say the first person who will be cured of Alzheimer’s disease is going to be a research participant. That is the plus side of knowing your genetic status. Others say they want to get tested because if they discover they don’t have a 4, then they’ll be relieved.
But there are things to take into consideration. Because of the Genetic Information Nondiscrimination Act (GINA), we are protected from employment and health insurance discrimination. But the big question is, what about long-term care insurance and life insurance? It’s in your medical records. If you try 23andMe, your results will get into your medical records. So if I apply for life insurance or long-term care insurance, my results are now discoverable. If you want to know your status, I would recommend speaking with a genetic counselor, getting your affairs in order before you take the test and then if you do come back as a 4/4, you will already have your life and long-term care insurance in place so that you cannot be discriminated against. Recently, there have been fears that this information can be passed on or discovered through other ways, too. So it’s important to think about insurance in advance.
Being Patient: Most people do not get PET scans because they’re not covered by insurance and cost between $5,000 and $7,000 [As of October 2023, Medicare covers beta-amyloid PET scans]. Have you gotten a PET scan to see whether there are plaques and tangles in your brain?
Jamie Tyrone: I’ve had many PET scans because it’s part of the research study that I’m involved in. They do not give me the results of those PET scans. Getting a PET scan and having it come back negative for amyloid might provide some relief, but if they do discover plaques, it might be anxiety-provoking, especially because you may not even get Alzheimer’s, despite having these plaques. Anxiety is also not good for the brain. You really have to think about why you want to know and whether it’ll be helpful to you.
Being Patient: Why would you recommend getting a genetic counselor and how can someone find one?
Jamie Tyrone: If you go to the National Society of Genetic Counselors, there is a link that will help you find somebody. Soon, it’s predicted that there will be a shortage of genetic counselors because of the advent of 23andMe and other companies that the FDA has allowed to start testing for these risk genes. My husband’s family had prostate cancer so when my husband wanted to get tested for that, he saw his physician and insurance paid to help him get a genetic counselor since there was a genetic reason to see one. If Alzheimer’s runs in your family, consider going to your physician, having him or her document that, then getting a genetic counselor. Maybe insurance would pay for that.
A genetic counselor would’ve prevented what I went through. I got to a point in time where I really didn’t know if I wanted to be here because I was worried about my husband having to care for me. I finally realized I had to choose between taking the dark road or the bright road and I couldn’t see my life being dark anymore. That’s when I started embracing my results and said, “I’m going to do whatever I can to make sure nobody has to have the same experience as I did and help people make the decision as to whether or not they want to take the test.” If I’d had a genetic counselor, I probably would’ve chosen not to be tested. Who knows?
Being Patient: What is it like to participate in a research trial? Is it correct that most studies won’t accept participants who are under age 50?
Jamie Tyrone: Yes, very few studies take people below age 50. At the Banner Alzheimer’s Institute, you have to be at least 49 to get into their longitudinal biomarker study. They’re looking at brain plaques, ApoE genetic status and cognition, then studying it over a long period of time. These types of studies have shown that we build up plaque in our brains early on. There is also a gene match study. If you participate in Banner’s gene match study, you send in your saliva and depending on what your genes are, they match you nationally with studies that you qualify for. People think there’s a stigma behind research and wonder what it means to participate or imagine it’s in this sterile environment, but it’s not that way at all. When I go to Banner, I feel like the rockstar of lab rats; they’re so appreciative that all of their research participants are there and they’re like family to me.
Being Patient: What do we know about how changing our lifestyle could help prevent Alzheimer’s? Have you changed your lifestyle to address your elevated risk?
Jamie Tyrone: When I first found out, I was so depressed I couldn’t do anything. When I came out of the depression and decided to take the bright road, I was in a very extensive exercise program. I was doing the Paleo diet, a lot of meditation and yoga. I felt the healthiest I ever had been in my life when I was doing that, but I was overly obsessed with it. Now, I think I found a happy medium of moderate exercise and everything in moderation. That’s helped me emotionally too because I’m not so fixated on my high risk for developing Alzheimer’s. If we address comorbidities, we will hopefully increase our cognitive reserve and push out Alzheimer’s by five years. Statistically speaking, if we could push out the age of onset by five years, we can decrease Alzheimer’s disease by 50 percent. But we still don’t know for sure how much lifestyle changes can delay the onset of Alzheimer’s for someone who has a genetic risk.
Being Patient: What are the negative aspects of participating in a research trial?
Jamie Tyrone: I think that depends on the person. For instance, if you’re claustrophobic, you may not want to go into an MRI scanner or get a PET scan. Although, at Banner, they give you Valium, which may decrease that risk. It depends on the trial, but they may have to insert an IV, which some people won’t like. Most research also requires a study partner. For instance, even though my husband may not travel to Phoenix, they will call him to see if he has recognized any changes in my memory. It depends on the study and how often you can dedicate your time.
Being Patient: If you go into a study that involves a cognitive test, what types of questions do researchers ask?
Jamie Tyrone: One of them tests short-term memory. So they’ll give you three words that you have to remember. Then, they’ll start talking to you. After 10 minutes, they’ll ask, “Do you remember those three words that I gave you?” During another test, they told me a lengthy story. Then they talked some more, and eventually, I had to come back and repeat the story. They’re looking for key words about the story, like if you remember the age of the woman or dog they described. They also ask if you can draw a clock, or require you to look at a complicated image, then draw it. It can be a little tiring just because you go through these mental gyrations of wondering whether you passed, but it’s a good thing for baseline. I notice some strengths and weaknesses when I go every time.
Being Patient: If you have a loved one with Alzheimer’s, what questions should you ask yourself before deciding whether you want to get genetically tested?
Jamie Tyrone: 1). Why do I want to be tested? 2). What would I do with that information? 3). If I do want that information, am I motivated to get my finances in order? 4). Am I going to change my lifestyle? Those are very important questions. When I was 49 and went to this testing, I was in healthy denial.
I had Alzheimer’s on both sides of my family, but thought, “It’s not going to happen to me. I’m young.” Alzheimer’s wasn’t even on my radar screen. I no longer have that healthy denial. I no longer can say that it’s not going to happen to me knowing that I’m a 4/4 because I know I’m at an increased risk.
My father died with Alzheimer’s and my mom currently does not have Alzheimer’s, but she’s showing some cognitive issues. On my father’s side, they all had cardiovascular disease, so they didn’t live long enough to know whether they’d develop Alzheimer’s, other than my father. My father was so healthy; he never took medication throughout his life. He was 76 when he got diagnosed and passed at 82, but my stepmother would tell you I knew before then. He had signs of depression and trouble sleeping, but it wasn’t correlated with Alzheimer’s. It wasn’t until he stopped remembering why he was in a building or being confused while driving that we knew he had Alzheimer’s.
This interview has been edited for length and clarity.
UPDATE, 20 November 2023: As of a landmark policy change in October 2023, Medicare now covers beta-amyloid PET scans for diagnosing Alzheimer’s disease.