A genetic test revealing the risk of Alzheimer's can be cathartic or painful

In a waiting room at the Banner Alzheimer's Institute in Phoenix, a 74-year-old woman, named Rubie, is on the verge of knowing if she has a gene that makes her susceptible to contracting the disease. ; Alzheimer's.

"I'm a little worried about it and hope not to have it," she says. "But if I do, I want to be able to plan my future."

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

APOE E4 does not cause the disease and many of those who wear it never develop Alzheimer's disease.

Yet, about 1 in 4 people who wear a single copy will develop Alzheimer's disease out of 85. Among those who receive two copies (one from each parent), up to 55% will develop the disease. Alzheimer's at 85 years old.

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

Like many people in their sixties and sixties, Rubie has witnessed near dementia.

"My mother had Alzheimer's disease at an advanced stage of her life and I have friends and family members with Alzheimer's disease," she says. "It's a terrible disease."

Rubie wanted to do something to help researchers find a cure for Alzheimer's disease. She volunteered for the Generation program, which tests an experimental drug to prevent or delay the disease.

The study recruits healthy people aged 60 to 75 years and carrying two copies of the APOE E4 gene. All participants learn their genetic status.

"People are remarkably brave to participate in the study," said Jessica Langbaum, badociate director of Banner's Alzheimer's Disease Prevention Initiative. "It's an important decision in life for people to learn this information."

Langbaum says that volunteers receive a lot of education before learning their genetic status.

"There are family, emotional and insurance considerations that people should think about before they know this information," she says.

Study participants also speak to a genetic counselor from the University of Pennsylvania when they get their results. Half of these meetings are by telephone and the other half by video link.

One of the goals of the study is "to learn how to communicate this information to people about their genetic susceptibility," says Langbaum. The researchers also hope to learn to communicate the results of other risk badessments, including brain scans and blood and cerebrospinal fluid tests, which are also part of the study.

When Rubie talks to the counselor, she learns that she only has one copy of the APOE E4 gene. And she's fine with that.

"I'm very happy to know," she says. "It removes the mystery."

The implications for children

The process is a bit more complicated for David, a 72-year-old retired business man.

Before getting his results, he thinks he is prepared.

"I'm a big boy," he says. "If the tests result in higher risks, I think I'll put more emphasis on taking advantage of the time I have."

But after learning his status, David is concerned.

David, like Rubie, has learned that he has only one copy of the APOE E4 gene, which means he has a moderately high risk of contracting Alzheimer's disease.

It was not serious, he said. But while talking to the genetic counselor, David realized how the result of his test could affect his children.

"My wife's grandmother and father had Alzheimer's disease," he says. "So his chances of having an APOE E4 gene are very, very high."

And that means that the couple's adult children could carry two copies of the gene.

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

David thinks his children need to know his genetic status to plan their lives. But he hesitates to tell his wife.

"She has experienced the nightmare of her grandmother and her father who died of Alzheimer's disease," he says. "I think if she knew I had even that risk slightly high, it could be very painful for her."

So David is in a dilemma. "Fifty-five years of marriage, you have to share things," he says. "But maybe some things are not better shared."

An eye on retirement

Susan, 67, who runs her own business, does not hesitate to share her test results with her husband. And they do not have children.

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

"When you're maybe 40 or 50, you will not want to face that," she says. "But, you know, once you've reached 60, you're leaving:" Maybe I should know. ""

Despite her concern, Susan does not see her genetic status having an immediate effect on her life.

I am asking here if she would retire if she had two copies of the APOE E4 gene. "No, I do not think so," she said.

A few minutes later, Susan learns that she only has one copy of the APOE E4 gene. For her, it's good news.

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

His relief, however, has a surprising effect on his retirement plans.

"Oh, I'll go ahead," she said, recognizing that knowing her genetic status allowed her to feel "more definitive" about her future.

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

ARI SHAPIRO, HOST:

Medical tests can now reveal the risk of contracting Alzheimer's disease, but the fact of undergoing them can be disturbing. Jon Hamilton, of NPR, was able to see this directly in a Phoenix research center, where he spoke with people before and after obtaining the results of their tests. Participants are identified by their first names only to protect their privacy.

JON HAMILTON, BYLINE: In a waiting room of the Banner Alzheimer's Institute, a woman named Rubie is on the verge of knowing if she has a gene that makes her vulnerable to Alzheimer's disease.

RUBIE: Well, I'm a little scared of that and hope not to have it. But if I do, I want to be able to plan my future.

HAMILTON: The gene is called APOE E4 and is the most powerful genetic risk factor known for Alzheimer's disease later in life. APOE E4 does not cause the disease, but people who inherit even a single copy of the gene are at greater risk and having two copies, one from each parent, magnifies this risk. Some studies have shown that more than half of these people would develop Alzheimer's disease at the age of 85. Rubie is 74 years old and knows what this disease can do.

RUBIE: My mother had Alzheimer's disease at an advanced stage of her life and I have friends and family members with Alzheimer's disease.

HAMILTON: So, Rubie volunteered for the Generation program, which tests an experimental drug to prevent or delay Alzheimer's disease. To qualify, you must be between 60 and 75 years of age and have two copies of the APOE E4 gene. Jessica Langbaum, researcher at Banner, explains that it takes courage to discover your genetic status.

JESSICA LANGBAUM: People are remarkably brave enough to move forward and raise their hands to participate in a study. But it's an important decision in life for people to learn this information.

HAMILTON: So, says Langbaum, volunteers receive a lot of information in advance.

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

HAMILTON: Participants also spoke to a genetic counselor from the University of Pennsylvania when they got their results.

LANGBAUM: We really designed this study to also learn to pbad on this information to people about their genetic susceptibility.

HAMILTON: When Ruby talks to her advisor, she learns that she only has one copy of the APOE E4 gene. And she's fine with that.

RUBIE: I'm very happy to know.

UNIDENTIFIED PERSON: What?

RUBIE: Very happy to know. This removes the mystery.

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

DAVID: I think I'm a big boy. I think I can handle it. If the tests result in higher risks, I think I will put more emphasis on the time I have.

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

DAVID: I just sent a text message to my son. I said, are you at home? We need to talk.

HAMILTON: David, like Rubie, learned he had a copy of the APOE E4 gene. It does not matter to him, but when talking to the genetic counselor, he realizes how the result could affect his adult children.

DAVID: My wife's grandmother and father both had Alzheimer's disease. The chances that she has the APOE E4 gene are very, very high.

HAMILTON: And that means David's kids could wear two copies of the gene. He feels that his children need to know his genetic status. But he hesitates to tell his wife.

DAVID: She lived the nightmare of her grandmother and her father who died of Alzheimer's disease, and I think that if she knew I had even that risk slightly high, it could be very annoying.

HAMILTON: So David is facing a dilemma.

DAVID: Fifty-five years of marriage – you have to share things, but maybe you should not share some things.

HAMILTON: Susan, 67, who runs her own business, does not hesitate to share the test results with her husband, and they do not have children. But Susan's parents are both dead as a result of the Alzheimer's disease. She is afraid to learn that she has two copies of the APOE E4 gene.

SUSAN: When you're maybe 40 or 50, you do not want to face that fact. But, you know, once you – once you're 60, you go there, you know, maybe I should know.

HAMILTON: Even then, Susan does not expect the test result to have an immediate impact.

SUSAN: I have not retired yet. I'm not – you know …

HAMILTON: Yes, you said you still work, then.

SUSAN: Yes. Yes, I am even …

HAMILTON: If you thought you had a very high risk, do you think you would retire?

SUSAN: I do not think so.

HAMILTON: A little later, Susan learns that she only has one copy of the APOE E4 gene. This is great news for her.

SUSAN: I was pretty much prepared for the worst, you know. So, I mean, in many ways, I have the impression of having won the lottery.

HAMILTON: And now, she seems pretty sure to retire.

SUSAN: Oh, I'll go ahead with that.

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

Jon Hamilton, NPR News, Phoenix.

(SOUND BY JAMES HEATHER'S "SOUNDS OF THE EMPIRE") Transcription provided by NPR, Copyright NPR.