A Camarillo area woman talks about having her DNA tested for Alzheimer’s risks.
Tom Kisken, email@example.com, 805-437-0255
The test validated what Teresa Valko already knew in her gut.
She carries the gene linked to Alzheimer’s, the disease years of battles and loss have taught her to hate. The test doesn’t mean she’ll acquire the disease that stole her mother’s memories and ability to speak and killed Valko’s aunt and uncle. It just increases the odds.
When she talks of the disease and the moat of dementia that meant her two daughters never really knew their grandmother, now in a Georgia board-and-care, her eyes well with tears. Her voice shakes.
But when the 23andMe DNA company confirmed genetic testing of her saliva showed she had one copy of the APOE4 gene that ups her Alzheimer’s ante, she took it as a matter of course, just like her kids did when she shared the news.
“They were like ‘OK, what’s for dinner?'” she said. “They know in our family that’s what we die of.”
Confirmation for some, the test represents limbo for many. Groups like the National Institute on Aging recommend people bypass APOE4 screening except for clinical research. They point at the lack of a cure and note a positive test doesn’t mean the disease is coming just as a negative test doesn’t eliminate the possibility.
An Oxnard neurology group is asking for people to wade into limbo in the name of science. They are conducting clinical trials for a drug, CNP520, developed by Newbury Park-based Amgen and pharmaceutical company, Novartis. The drug is seen as a way to delay the start and growth of Alzheimer’s.
The testing in Dr. James Sutton’s offices is part of what is called the Generation Program, aimed at exploring the drug’s effects on the disease in its earliest stages. Sutton is reaching out to people ages 60 to 75 with no symptoms who are willing to be tested or already know their APOE4 status.
If the tests reveal people own one of two copies of the gene, they’ll likely go through brain imaging. People who show additional risks of Alzheimer’s could be asked to continue in the study and receive the experimental medication or a placebo. The study could last five years or more.
‘A heroic thing’
People will be told if they carry the gene unless they decide they don’t want to know.
“It’s a lot to ask of people,” said Sutton. “It’s kind of a heroic thing we’re asking people to do.”
Leaders of the companies, Biogen and Eisai, announced in March they were ending their ENGAGE and EMERGE clinical trials. The studies focused on using the drug, aducanumab, to treat Alzheimer’s.
Sutton said other research failures underscore the need to intervene with the disease before it progresses. That means finding people willing to be tested for the APOE4 gene.
“Increasingly, it looks like we’re we’re going to need to start sooner,” said Sutton. “…We’re asking people not to wait until they have symptoms.”
The APOE gene comes in at least three different forms. A rare version, APOE2, is believed to reduce a person’s chances of Alzheimer’s. APOE3, the most common version, appears not to have any influence on the disease.
About 10 percent of the population, maybe more, carries at least one copy of APOE4. It is believed to be one of many genes linked to increased risk of late-onset Alzheimer’s, meaning cases that begin after age 65.
Researchers once believed a single copy increased a person’s odds of the disease about three times. They thought a person with two copies of APOE4, meaning it was inherited it from both parents, carried a risk as much as 12 times higher than people with no copies of the gene.
Now, some researchers contend the numbers are high.They cite 2017 research that suggests people ages 60 to 64 with two copies of the gene carry a 0 to nearly 6% risk of developing dementia within five years.
Dr. Jeffrey Allan, a Camarillo physician who focuses on aging patients, does not see much advantage in knowing the odds.
“I would try to talk the patient out of it unless they were really adamant about knowing,” he said of the testing, citing the possibility of anxiety and depression.
Dr. Lorne Label, a Thousand Oaks neurologist, thinks testing could be positive if results motivate people to eat healthier, exercise more, sleep better and do the other things believed to promote brain health.
Occasionally, patients ask him about learning their APOE4 results. He said the news the tests often are not covered by insurance and can be expensive ends the conversation.
Concerns about home tests
The explosion of DNA testing kits means people don’t have to go through their doctors. They can find out their risks at prices ranging from $112 to $199.
“It never occurred to me not to want to know,” said Catherine Hamilton, a Camarillo psychologist. She learned she does not have the APOE4 gene through a 23andMe test that also found no evidence of genes that increase the risk of Parkinson’s and celiac diseases. “Information is power.”
23andMe’s DNA tests related to Alzheimer’s and other health conditions was approved by the FDA in 2017, after being shut down years earlier. Now the tests also include Type 2 diabetes and BRCA genes linked to breast and ovarian cancer risk.
“We believe people have the right to directly access this kind of information about themselves and that they can understand it,” said company spokesman Scott Hadly of the Alzheimer’s test. “… It is one of the health reports that our consumers are most interested in looking at.”
It’s a locked report, meaning people have to opt in and also go through an online tutorial before seeing the results.
An online presentation doesn’t equate to the genetic counseling people should get before they undergo testing, said Dr. Keith Fargo, director of scientific programs and outreach for the Alzheimer’s Association.
“I’ve been told the biggest lie in the world is, ‘I’ve read and agreed to the conditions,” he said.
Fargo said testing should be conducted only in medical settings. He worries people may not consider the possible consequences of learning their APOE4 status.
“One of the things is how does it affect your insurance,” he said, suggesting a test revealing heightened risk could complicate the process of purchasing longterm care insurance.
APOE4 is one of many genes that may influence Alzheimer’s, Fargo said, noting the presence of the gene is an indicator of risk not an answer on whether dementia is coming.
“This test is not going to answer that question for anyone,” he said.
At an Oxnard conference in June, Fargo said a medical breakthrough on Alzheimer’s is much closer than people realize. The end of ENGAGE and EMERGE hasn’t dampened his optimism.
“That’s one drug out of literally hundreds,” he said in a phone interview. “There is no question in my mind that this is a beatable disease.”
Like Sutton, Fargo contends APOE4 testing is crucial to ongoing research. He noted many researchers conduct the testing and then don’t tell the participants the results.
In the testing being conducted out of Sutton’s office, people are given a choice. If they decide to learn their status, they’re counseled on what the test results mean.
“No question they have the right to know,” Sutton said.
Planning for dementia
The 23andMe test told Teresa Valko she has an increased risk. Her gut and her family history has convinced her the only thing that will prevent her from the disease is a medical breakthrough.
“I know memories aren’t going to be an option for me at some point,” she said, characterizing the test as sort of a planning tool.
She and her husband have set up trust funds, a will, power of attorney and an advance directive. She is 52 and expects that if the disease comes, her memory could begin to erode in her upper 60s. That’s why her husband plans to retire early.
“We want as many years we can to do as many things as we can to the fullest,” she said.
She’s applying to be part an Alzheimer’s clinical trial, though she’s too young to qualify for many studies. She’s chairwoman of the board for the California Central Coast chapter of the Alzheimer’s Association. She raises funds for Alzheimer’s research, tells her family’s story to community groups and travels to the nation’s capitol to talk about fighting the disease with members of Congress.
Valko won’t tell anyone else whether they should get tested. She sees it for herself as one more way to take action.
“Someone has to step up and be the voice,” she said. “I want to be the one that brings up Alzheimer’s in every conversation.”
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By the numbers
13,884 Ventura County residents were estimated to have Alzheimer’s in 2015.
25,481 county residents are projected to be diagnosed by 2030.
Source: Alzheimer’s Association
Clinical study information
People interested in the Generation Program clinical study can call Pacific Neuroscience Medical Group at 805-278-4148 or go to https://bit.ly/2HK5mhk. People need to be between 60 and 75 and have no cognitive impairment. People need to know their APOE4 status or be willing to be tested.
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