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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, associate 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 assessments, 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.