Take A Closer Look At Gene Testing For Alzheimers Disease
More than five million Americans are living with Alzheimers disease and there is currently no cure for this degenerative brain disease. Doctors are not sure what causes Alzheimers diseaseis it genetic? Lifestyle? Age-related? However, its important to know that in some cases there is a genetic component. There is now a test for the Alzheimers gene, but it is not 100% indicative for the majority of people who take the test.
At this time, genetic tests that determine susceptibility to Alzheimers disease are primarily of value in a research setting, states the Alzheimers Association in a white paper about genetic testing for the disease. Many people develop Alzheimers dementia without having the Alzheimers risk gene identified by this test and many people with the gene do not develop Alzheimers dementia.
So, what precisely are the pros and cons of testing for the Alzheimers gene? We explain more below.
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 youre 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 wont 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.
I Have Just Been Diagnosed With Dementia And Ive Heard There May Be Genetic Tests My Children Can Have To See Whether They Are Going To Get Dementia
- Genetic testing is not a routine part of the assessment of someone with dementia, although this may change in the decades to come as our knowledge of genes and their association with dementia increases.
- Genetic testing for dementia is not recommended and will not be helpful unless there is a strong family history of younger onset dementia .
- There are several heritable genetic mutations that predispose or determine the development of dementia. However, these genetic mutations are related to rare and aggressive forms of younger onset dementia, and account for less than 2% of all cases of dementia.
- For those who do have a family history of younger onset dementia, there are tests that can determine whether a person has these mutations. These tests are available through genetic counselling and testing services.
- Those choosing to undergo testing for these genes should do so in close consultation with their family and a genetic counsellor, and they need to consider that a positive test will indicate the future onset of what is currently a terminal and incurable disease.
Information about genetics of dementia and genetic testing can be found on a Help Sheet from Dementia Australia, Genetics of Dementia
Read Also: Do People With Dementia Sleep A Lot
Genetic Testing For Single
Genetic testing for single-gene causes of dementia is available through the NHS.
There are two different types of genetic testing diagnostic testing and predictive testing. These are used for different purposes.
People affected by dementia can also use genetic testing for family planning.
Diagnostic testing for dementia
Alzheimers Blood Tests Available Now
As of writing, there are two blood tests for Alzheimers available in the US: Preclivity AD Test and Quest AD- Detect. While neither have FDA approval, they are lab certified for reliability and are or will be seeking FDA approval. The main drawback through these non-invasive blood tests is that most insurance companies will not cover the cost of them because they are not FDA approved. So, this becomes an out-of-pocket expense. Below is a table that outlines both tests in terms of how much they cost, what they test for and how to get them done.
|Blood Tests for Alzheimers Disease|
|Preclivity AD Test from C2N Diagnostics||$1250||Measures proteins in blood plasma. Testing for beta amyloid protein build up to indicate Alzheimers diagnosis. Specifically, checking the ratio of 2 different amyloid beta proteins that are biological markers of the disease. It also detects a genotype that is also an indicator for the onset of Alzheimers. Results take approximately 10 days.||Available through a doctors order in all states except New York.|
|Quest AD- Detect from Quest Diagnostics||$500||Measures amyloid beta proteins in blood plasma. Designed similarly to detect the ratio of 2 amyloid beta proteins, beta40 and beta42. The test is meant to determine the risk for Alzheimers by looking at if there is a higher or lower level of this protein in the blood.||Available by a doctors order but only at Quest Diagnostic labs nationwide.|
Don’t Miss: Is Losing Your Sense Of Smell A Sign Of Dementia
Genetic Testing For Alzheimer’s Has Emotional Risk
August 18, 2020 â Twelve years ago, Jamie Tyrone volunteered to participate in a clinical trial. The researchers wanted to know whether learning your genetic risk for developing some 20 or so different diseases, through a direct-to-consumer genetic test, would prompt you to take up a healthier lifestyle. But Tyrone wanted to get something else out of the study.
The San Diego-based retired nurse, now 59, had been living with mysterious progressive neurological problems for about 15 years. The debilitating weakness and fatigue had pushed her into early retirement. Sometimes she needed a scooter to get around the one-story ranch she and her husband bought to accommodate her increasing physical challenges. But doctors had never made a definitive diagnosis. While brain scans ruled out multiple sclerosis, this clinical trial would tell her if she had a gene that predisposed her to the condition.
So focused on learning her genetic risk for MS, Tyrone didnât give any thought to the other diseases sheâd learn her risk for, including Alzheimerâs disease.
To Know Or Not To Know
Unlike Tyrone, Gregory thinks everyone should learn their APOEe4 status. But also unlike Tyrone, she has not seen family members die of Alzheimerâs disease — though she learned since her test that she has a strong family history of the condition.
Gregory admits that she still worries about her brain health, and imagines she always will, every time she forgets something. But she has no regrets. âHad I not learned this, I never would have made any of these changes,â she says. âThis information has truly saved my life.â
Ultimately, the choice to take an APOEe4 test is a very personal one. But keep in mind, once you know your status, you canât reverse that knowledge. Whether or not the information saves your life, itâs likely to change it.
âThink hard about your decision,â Tyrone says. âGet your financial house in order first. Think about how the information might affect your family. Talk to a genetic counselor. And ask lots of questions. This is not to be taken lightly.â
Jamie Tyrone, author Fighting for My Live: How to Thrive in the Shadow of Alzheimerâs, San Diego.
Scott Weissman, MS, CGC, Chicago Genetics, Chicago.
Shirley Wu, PhD, director, Health Product Science, 23andMe, San Francisco.
New England Journal of Medicine: âEffect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk.â
Alzheimerâs Association: â2019 Alzheimerâs Disease Facts and Figures,â âGenetic Testing Statement.â
News Release, FDA.
Many People Know About Alzheimer’s Disease And Fear That They May One Day Encounter Its Effects As Older Age Approaches
For many people who have experienced the effects of Alzheimer’s through caring for a loved family member or friend, it can be sobering to think about managing the disease themselves. In fact, developing Alzheimers disease is the number one health fear among Americans age 50 and older according to a study by the Alzheimers Association.
What’s in this Guide?
Disclaimer: Before You Read
It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don’t smoke.
Genetics is a quickly changing topic. We will do our best to keep our content current, but it’s important to know the new research can change our content at any time. For this reason, it is important to talk to your doctor about any medical symptoms or genetic tests you are considering. The information on this website is not to be used as a substitute for medical advice, diagnosis, and/or treatment.
Because there is no cure for Alzheimer’s, many people want to know how they can reduce the risks of developing Alzheimer’s disease, and many also wonder what their chances of developing it are.
Should You Be Tested For The Alzheimers Gene
Anyone who has a family member with Alzheimers disease worries: Does Alzheimers run in my family? Will I also go on to develop the disease?
Concerns about Alzheimers may become particularly pressing in older people who may be experiencing memory issues of their own. Genetic testing for Alzheimers is available through consumer testing companies like 23andMe. For one to two hundred dollars, you can send in a test swab of saliva or a cheek swab or blood specimen and find out if you carry a gene that increases your risk of developing Alzheimers.
But just because you can get tested, doesnt mean you should get tested. Because while a direct-to-consumer genetic test can inform you on a risk level, it cannot determine for certain whether you will develop Alzheimers disease. While some forms of Alzheimers are inherited , particularly early-onset forms of the disease that crop up as early as a persons 30s or 40s, most cases of Alzheimers arise in older adults and are thought to be influenced not just by a single gene mutation like in FADs, but rather by several genes and also by lifestyle factors like diet and exercise.
One gene in particular has received a lot of attention: the APOE gene, which codes for a protein called apolipoprotein E that affects how cholesterol and other fats are processed in the body. Each of us carries two copies of the APOE gene, one inherited from our mother, and the other from our father.
So should you get tested for APOE-E4?
Don’t Miss: Does Alcohol Help Prevent Alzheimer’s
How Can I Reduce My Risk Of Dementia
For the vast majority of people, our genes are only one factor affecting our risk of dementia. There are many other factors involved, such as age and lifestyle. While we cannot change our age or genes, research has found that up to a third of all cases of dementia could be avoided through lifestyle changes.
There are simple things we can do that may help lower our risk:
- do not smoke.
You can find more detailed information about how you can reduce your risk of dementia here.
What To Do If Someone In Your Family Is Diagnosed With Alzheimer’s
Contact the Alzheimer’s Association . Find out about resources available to help you and your family. State and county agencies may also be able to help.
Plan for the future. This includes legally designating someone to make health care and financial decisions for the affected person when he or she can’t.
Investigate long-term care options. Nursing care is expensive, and finding a good place can take time. Start early.
Take care of physical health. People with dementia who live a healthy lifestyle tend to progress more slowly to the later stages.
Steer away from genetic testing. Even if you have the APOE Alzheimer’s risk gene, it usually doesn’t mean you will develop dementia later in life.
Don’t Miss: Can A Dementia Patient Be Sectioned
When Testing Is Worthwhile
While screening for dementia when you don’t have any symptoms doesn’t make sense, Dr. Nelson states, “Any memory or cognitive changes that concern youor the people close to youwarrant a visit to a geriatrician, neurologist, or neuropsychologist.”
Normal, age-related memory lapseslike forgetting the name of your high school English teacher, or having trouble recollecting where you had dinner on a trip to Parisshouldn’t be cause for concern.
But call your doctor if you start to forget information you once knew well, or memory loss is interfering with your daily function. “When you’re beginning to forget the name of your high school or your grandchild, or whether a close family member is dead or alive, or you have difficulty with tasks that were once familiar, like becoming disoriented in your own home or neighborhood, those types of episodes are concerning,” Dr. Nelson says.
When you see a doctor, you’ll go through a series of tests, including a neurological exam to determine how well your brain and nervous system are functioning. The doctor will check your reflexes, eye movements, speech, and coordination.
He or she will also ask you a variety of questions that will assess your visuospatial abilities .
Your evaluation may involve tests for other conditions that can cause memory loss. These include
underactive thyroid gland
vitamin deficiencies, including B1 and B12.
Can You Genetically Test For Alzheimers
Since Alzheimers is a multifactorial disease, no test will be able to tell you whether youre going to get Alzheimers disease with full certainty. However, DNA testing can evaluate whether you have an increased genetic risk of developing this disease by identifying specific gene mutations in your genotype.
When we take all the genes associated with a persons risk of Alzheimers disease into consideration, it has been estimated that genetic testing and predictive medicine could predict up to 90 percent of a persons risk of developing Alzheimers disease.
If your genetic testing results reveal that you do, in fact, have a higher risk of Alzheimers, you can use this information to guide your prevention plan. In many cases, preventative strategies can prevent or significantly delay the onset and progression of Alzheimers disease.
Keep in mind that you should discuss your test results with a neurology specialist or genetic counselor in order to assess them and figure out whether you have other risk factors for the disease, which can include: 6
- Increasing age
- Traumatic brain injuries
- Heart disease
Before testing, youll also need to consider the emotional effects that these results can have on your life. Being told that youre at risk of developing Alzheimers disease is never easy however, this information can help you adopt preventive measures earlier on in life.
Read Also: Is Anger A Symptom Of Dementia
Being Patient: What Is It Like To Participate In A Research Trial Is It Correct That Most Studies Wont Accept Participants Who Are Under Age 50
Jamie Tyrone: Yes, very few studies take people below age 50. At the Banner Alzheimers Institute, you have to be at least 49 to get into their longitudinal biomarker study. Theyre 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 Banners 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 theres a stigma behind research and wonder what it means to participate or imagine its in this sterile environment, but its not that way at all. When I go to Banner, I feel like the rockstar of lab rats theyre so appreciative that all of their research participants are there and theyre like family to me.
Being Patient: Now That You Know Youre 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, Im getting Alzheimers disease. Im 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 Alzheimers 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 youre at an increased risk, then theres something that you can do. Im participating in a research study at the Banner Alzheimers Institute. Im hoping we will help the next generation not get Alzheimers. They say the first person who will be cured of Alzheimers 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 dont have a 4, then theyll be relieved.
Read Also: What Is Respite Care For Dementia
Consideration Of Other Risk Factors
Harboring the ApoE4 allele is the most important genetic risk factor for late-onset Alzheimers, and knowing ones E4 allele status certainly could be transforming, particularly in terms of preventative, beneficial lifestyle changes individuals may undergo.
However, there are important considerations to take into account before testing to help mitigate stress and anxiety associated with a positive E4 test. Other experts and I suggest that people start by becoming well-informed about the basics of ApoE4. If testing is carried out and a higher risk is revealed, it is critically important those individuals obtain genetic counseling and be actively assisted about how to proceed.
Whether you carry the ApoE4 gene or not, many other risk factors are thought to contribute to Alzheimers, not just genes and old age. What you eat, how much you exercise, formal education, smoking, how mentally active you remain and other factors have all been implicated.
Ultimately, the choice of whether to get a genetic test remains a personal one all the more reason its important to be informed about the pros and cons of Alzheimers screening and what doctors know about your risk for the disease and whether viable treatment options are available.