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A Genetic Test That Reveals Alzheimer's Risk Can Be Cathartic Or Distressing

Jul 12, 2019
Originally published on July 12, 2019 11:09 pm

In a waiting room at the Banner Alzheimer's Institute in Phoenix, a 74-year-old woman named Rubie is about to find out whether she has a gene that puts her at risk for Alzheimer's.

"I'm a little bit apprehensive about it, and I hope I don't have it," she says. "But if I do, I want to be able to plan for my future."

The gene is called APOE E4, and it's the most powerful known genetic risk factor for Alzheimer's after age 65.

APOE E4 doesn't cause the disease, and many of those who carry it never develop Alzheimer's.

Still, about 1 in 4 people who carries a single copy will develop Alzheimer's by 85. Among people who get two copies (one from each parent) up to 55% will develop Alzheimer's by age 85.

Rubie is one of several participants in a research study at Banner who agreed to speak both before and after learning their APOE E4 status. The participants are identified only by first name to protect their privacy.

Like many people in their 60s and 70s, Rubie has seen dementia up close.

"My mother had Alzheimer's in the last stage of her life, and I've got friends and family that have Alzheimer's," she says. "It's a terrible sickness."

Rubie wanted to do something to help researchers find a treatment for Alzheimer's. So she volunteered for the Generation Program, which is testing an experimental drug meant to prevent or delay the disease.

The study is recruiting healthy people between 60 and 75 who carry two copies of the APOE E4 gene. All participants learn their genetic status.

"People are remarkably brave in stepping forward to participate in the study," says Jessica Langbaum, associate director of the Alzheimer's Prevention Initiative at Banner. "This is a big life decision for people to learn this information."

Langbaum says volunteers get a lot of education before they learn their genetic status.

"There are family considerations, there are emotional considerations and there are insurance implications or considerations that people should think about before learning this information," she says.

Participants in the study also talk to a genetics counselor at the University of Pennsylvania when they get their results. Half of those encounters take place over the phone and half use a video link.

One of the study's goals is to "learn how to tell people this information about their genetic susceptibility," Langbaum says. Researchers also hope to learn how to convey results of other risk assessments, including brain scans and tests of blood and spinal fluid, which are also part of the study.

When Rubie talks to the counselor, she learns she has a single copy of the APOE E4 gene. And she's OK with that.

"I'm very glad to know," she says. "It takes the mystery out of it."

The implications for children

The process is a bit more fraught for David, 72, a retired businessman.

Before he gets his results, he thinks he's prepared.

"I'm a big boy," he says. "If the testing comes out to where I'm running a higher risk, I think I'm going to put a lot more emphasis on enjoying the time that I have."

But after learning his status, David is concerned.

David, like Rubie, learned that he has a single copy of the APOE E4 gene, which means he has a modestly elevated risk of getting Alzheimer's.

That was no big deal, he says. But as he talked with the genetics counselor, David realized how his test result might affect his children.

"My wife's grandmother and father both had Alzheimer's," he says. "So the chances of her having an APOE E4 gene is very, very high."

And that means the couple's adult children might be carrying two copies of the gene.

"I just texted my son," he says. "I said, 'Are you home? We need to talk.' "

David feels like his kids need to know his genetic status to plan their lives. But he's reluctant to tell his wife.

"She lived through that nightmare of her grandmother and her father passing away from Alzheimer's," he says. "I think if she knew I even had that slight elevated risk it could be very distressful to her."

So David finds himself in a quandary. "Fifty-five years of marriage, you gotta share stuff," he says. "But maybe some things are best not shared."

An eye on retirement

Susan, who is 67 and runs her own business, has no hesitation about sharing her test results with her husband. And they don't have kids.

But Susan's parents both died with Alzheimer's. She's afraid she'll learn that she has two copies of the APOE E4 gene and a high risk of developing Alzheimer's.

"When you're maybe 40 or 50, you don't want to face that fact," she says. "But, you know, once you've already hit 60 you go, 'Maybe I should know.' "

Despite her concern, Susan doesn't see her genetic status having an immediate effect on her life.

I ask here whether she'd retire if she had two copies of the APOE E4 gene. "No, I don't think so," she says.

A few minutes later, Susan learns she's carrying a single copy of the APOE E4 gene. To her, that's great news.

"I was pretty much prepared for the worst," she says. "So, I mean, in a lot of ways I feel like I won a lottery."

Her relief has a surprising effect on her retirement plans, though.

"Oh, I'll move ahead with it," she says, acknowledging that knowing her genetic status made her feel "more definitive" about her future.

Susan says she would like to work part time after retiring – perhaps for the Humane Society.

Copyright 2019 NPR. To see more, visit https://www.npr.org.

ARI SHAPIRO, HOST:

Medical tests can now reveal a person's risk for Alzheimer's disease, but taking those tests can be unsettling. NPR's Jon Hamilton saw that firsthand at a research center in Phoenix, where he spoke to people before and after they got their test results. The participants are identified by their first names only in order to protect their privacy.

JON HAMILTON, BYLINE: In a waiting room at the Banner Alzheimer's Institute, a woman named Rubie is about to learn whether she has a gene that puts her at risk for Alzheimer's.

RUBIE: Well, I'm a little apprehensive about it, and I hope I don't have it. But if I do, I want to be able to plan for my future.

HAMILTON: The gene is called APOE E4, and it's the most powerful known genetic risk factor for Alzheimer's in later life. APOE E4 doesn't cause the disease, but people who inherit even a single copy of the gene are at higher risk, and having two copies, one from each parent, amplifies that risk. Some studies have found that more than half of these people will develop Alzheimer's by age 85. Rubie is 74 and knows what the disease can do.

RUBIE: My mother had Alzheimer's in the last stage of her life, and I've got friends and family that have Alzheimer's.

HAMILTON: So Rubie volunteered for the Generation Program, which is testing an experimental drug meant to prevent or delay Alzheimer's. To qualify, you need to be between 60 and 75 and have two copies of the APOE E4 gene. Jessica Langbaum, a researcher at Banner, says finding out your genetic status takes courage.

JESSICA LANGBAUM: People are remarkably brave in stepping forward and raising their hands to participate in a study. But this is a big life decision for people to learn this information.

HAMILTON: So, Langbaum says, volunteers get a lot of education beforehand.

LANGBAUM: There are family considerations, there are emotional considerations, and there are insurance implications or considerations that people should think about before learning this information.

HAMILTON: Participants also talked to a genetics counselor at the University of Pennsylvania when they get their results.

LANGBAUM: We've really designed this study to also learn how to tell people this information about their genetic susceptibility.

HAMILTON: When Ruby talks to her counselor, she learns that she has a single copy of the APOE E4 gene. And she's OK with that.

RUBIE: I'm very glad to know.

UNIDENTIFIED PERSON: What?

RUBIE: Very glad to know. It takes the mystery out of it.

HAMILTON: For David, a retired businessman, the process is a bit more fraught. Before getting his results, he thinks he's prepared.

DAVID: I think I'm a big boy. I think I can handle it. If the testing comes out to where I'm running a higher risk, I think I'm going to put a lot more emphasis on enjoying the time that I have.

HAMILTON: But after learning his genetic status, he's concerned.

DAVID: I just texted my son. I said, are you home? We need to talk.

HAMILTON: David, like Rubie, learned that he has one copy of the APOE E4 gene. That's no big deal for him, but as he talked with the genetics counselor, he realized how the result might affect his adult children.

DAVID: My wife's grandmother and father both had Alzheimer's, and so the chances of her having an APOE E4 gene is very, very high.

HAMILTON: And that means David's children might be carrying two copies of the gene. He feels like his kids need to know his genetic status. But he's reluctant to tell his wife.

DAVID: She lived through that nightmare of her grandmother and her father passing away from Alzheimer's, and I think if she knew I even had that slight elevated risk, it could be very distressful to her.

HAMILTON: So David finds himself in a quandary.

DAVID: Fifty-five years of marriage - you've got to share stuff, but maybe some things are best not shared.

HAMILTON: Susan, who is 67 and runs her own business, has no qualms about sharing the test results with her husband, and they don't have kids. But Susan's parents both died with Alzheimer's, so she's afraid she'll learn that she has two copies of the APOE E4 gene.

SUSAN: When you're maybe 40 or 50, you don't want to face that fact. But, you know, once you're - once you've already hit 60, you go, you know, maybe I should know.

HAMILTON: Even so, Susan doesn't expect the test result to have an immediate impact.

SUSAN: I have yet to retire, though. I'm not - you know...

HAMILTON: Yeah, you said you're still working, so.

SUSAN: Yes. Yes, I'm even...

HAMILTON: If you found that you were very high-risk, do you think you would retire?

SUSAN: I don't think so.

HAMILTON: A bit later, Susan learns that she's carrying a single copy of the APOE E4 gene, and to her, that's great news.

SUSAN: I was pretty much prepared for the worst, you know. So, I mean, in a lot of ways, I feel like I won the lottery.

HAMILTON: And now she's sounding pretty certain about retiring.

SUSAN: Oh, I'll move ahead with it.

HAMILTON: Susan still hopes to work part time, perhaps at the Humane Society.

Jon Hamilton, NPR News, Phoenix.

(SOUNDBITE OF JAMES HEATHER'S "EMPIRE SOUNDS") Transcript provided by NPR, Copyright NPR.