The guide to
Genetic testing for Alzheimer's
Alzheimer'srisk genes
Alzheimer's genetic testing
Test results & what's next
The Alzheimer's gene
In the US, approximately 6.9 million people are affected by Alzheimer’s, and the number worldwide is estimated to be as high as 24 million.
Meaning
Gene
Variant
Reduced risk
E2
APOE
Neutral risk
E3
(Alz. gene)
Higher risk
E4
Data SOURCE
Return
Next
Early onset genes
Early onset Alzheimer’s:
- Younger than 65, as early as 30s
APP
PSEN-1
PSEN-2
If someone has any one of these three genes, they will most likely develop early-onset Alzheimer’s.
Early Onset Genes
Return
Next
To test, or not to test
Genetic testing can provide valuable information about your risk and help in early planning and intervention. However, it also comes with potential emotional, ethical, and privacy concerns that need to be carefully considered.
Pros
Better mental and logistical planning
for potential caregiving needs
Cons
Can take proactive steps to reduce risk, such as adopting the MIND diet and regular exercise
Mental comfort if results come back to be negative
Cons
Emotional distress for individuals and family members
Fear of insurance companies or employers misusing information
Not fully understanding test results due to lack of access to genetic counselling
Return
Next
Privacy concerns and genetic testing
Many people worry about the privacy concerns of genetic testing, and how a test confirming genetic risk of Alzheimer’s or another form of dementia could impact their insurance among other things. The US Genetic Information Non-Discrimination Act (GINA) of 2008 was intended to provide protections but it fails in important ways.
“The act only deals with employment and health insurance, but it doesn’t deal with life insurance and probably most significantly, it doesn’t deal with disability insurance or long-term care insurance.
Hank Greely
READ More
LEarn More
Return
Next
Privacy concerns and genetic testing
While many insurance providers don’t require people to disclose their genetic test results, insurers in theory could use this information to determine whether or not to provide long-term care coverage for a healthy individual and their family members in the future.
READ More
LEarn More
Return
Next
Robin McIntyre’s experience with genetic testing
Robin McIntyre learned at age 29 that she carries a Persenilin mutation associated with early-onset Alzheimer’s. Since 2010, 16 of McIntyre’s relatives have died of Alzheimer’s before age 60, including her mother, uncles, and several cousins. McIntyre spoke to Being Patient about her decision to undergo genetic testing to learn her status.
LEarn More
Return
Next
Robin McIntyre’s experience with genetic testing
“Knowing that I had a 50-50 chance of passing that on to my own offspring was a major decision factor in that. I really didn’t want to put children through that…I had been through genetic counseling and knew what the risks were of finding out or not finding out. I waited a few years before I asked; I didn’t want the results to start dictating my life. I didn’t want Alzheimer’s disease to define who I was. But it turns out, it’s everything I am. I met with the medical team at the University of Pittsburgh Medical Center, and asked them to reveal my genetic status….I felt like knowledge was power.”
LEarn More
Robin McIntyre
READ More
Return
Next
Test results and clinical trials
Being a carrier may increase your chances of getting into clinical trials, an important consideration when Wendy Nelson decided to undergo genetic testing.
“Five or six years ago, I used to not want to know because there was nothing you could do if you were found to carry it or prone to get it. They say you can eat healthily and you can exercise. I do those, but my mom did them too. I’ve watched the clinical trial space and know that they’re trying to get people onto clinical trials earlier and that being a carrier qualifies you for some clinical trials now. So, that’s part of the reason I decided to find out…”
LEarn More
Wendy Nelson, carrier of ApoE4 gene
READ More
Return
Next
Being prepared for the results
Having the Alzheimer's gene does not mean you will have the disease.Jamie Tyrone has two copies of the APOE4 "Alzheimer's Gene", and she shares why it is important to talk to a genetic counselor.
"It came back that I had two copies of the APOE4 gene...Had I interacted with [a genetic counselor], I think I would’ve been much more prepared for this information... I’m going to do whatever I can to make sure nobody has to have the same experience as I did and help people make the decision as to whether or not they want to test."
Jamie TyroneFounder of Beating Alzheimer’s By Embracing Science (BABES)
LEarn More
READ More
Return
Next
The Jalisco gene
Andres Martin carries the Jalisco gene, a rare genetic mutation that causes early-onset familial Alzheimer’s and impacts families from Jalisco, Mexico. He advocates for research involvement to give scientists a greater chance to develop ways to help younger generations. He is currently undergoing transcranial magnetic stimulation that delivers magnetic pulses into the brain and is a participant in the DIAN study.
Listen to Andres
Return
Next
What happens in a DNA test
You need to provide a saliva sample, after that results will be available in a few weeks. Some people also consult a genetic counselor to better understand their test results. Typically, a DNA test costs US$100-1,000.
1. Order test kit
2. Provide sample
3. Return sample
4. Get results
LEarn More
Return
Next
New beginnings after an MCI diagnosis
Being Patient interviewed Marwan Sabbagh, MD, he talks about how genetic testing was considered taboo a few years ago, but now more commonly used.
“We went from not talking about [genetic testing] at all to now using it for risk stratification because we know that if you’re an ApoE4 double copy, your risk of having complications with the monoclonal [antibody treatments for Alzheimer’s] is quite high.”
Marwan SabbaghNeurologist
Read more
Return
Next
Diet and brain health
Being Patient interviewed Dr. Hussein Yassine, director of the USC Center for Personalized Brain Health, he shares insights on the link between eating patterns and brain health, particularly for those with genetic risk of Alzheimer’s disease.
“We know that the MIND diet, which is a combination of the Mediterranean diet and the DASH diet, is particularly good for the brain…People who start these healthy diets before they have a diagnosis of disease tend to have more [benefits] than after the diagnosis of disease.”
Hussein YassineDirector, USC Center for Personalized Brain Health
Read our guide on diet and brain health!
Read the Interview
Return
Next
Protective genes
While some genes increase Alzheimer’s risk, other genes appear to be protective, lowering it. Scientists are studying the protective powers of a gene called FN1, which appears to counteract the effects of ApoE4.
Read more
Return
Next
Scientific ways to reduce risk
Genes are affected by other genes, lifestyle, living environment, demographics, and other factors.
Environment
Pollution
Living Conditions
Higher levels of PM2.5 air pollution, which can come from agriculture and wildfires, were linked to a higher number of dementia cases developing over time.
Lifestyle
Mental Exercise
Diet
Physical Exercise
The effect of genetic factors was found to be lower in physically active participants. Similarly, an obese person could reduce the effect of their genes by making lifestyle changes.
Return
Next
What’s next in genetics research?
Considering Alzheimer’s disease’s genetic links, scientists are exploring targeted therapies to address familial Alzheimer’s through our DNA.
Gene therapy
Researchers are studying whether editing or delivering protective genes could prevent Alzheimer’s.
Stem cell therapy
Scientists are exploring the use of stem cells in Alzheimer’s research. While stem cell therapy is accessible, experts say the evidence behind these treatments is lacking..
LEarn More
Return
Next
Explore more resources at beingpatient.com
LEarn More
Return
Next
Want to learn more?
Visit
beingpatient.com
for the latest news and information on brain health and Alzheimer's disease
Return
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Transcript
The guide to
Genetic testing for Alzheimer's
Alzheimer'srisk genes
Alzheimer's genetic testing
Test results & what's next
The Alzheimer's gene
In the US, approximately 6.9 million people are affected by Alzheimer’s, and the number worldwide is estimated to be as high as 24 million.
Meaning
Gene
Variant
Reduced risk
E2
APOE
Neutral risk
E3
(Alz. gene)
Higher risk
E4
Data SOURCE
Return
Next
Early onset genes
Early onset Alzheimer’s:
APP
PSEN-1
PSEN-2
If someone has any one of these three genes, they will most likely develop early-onset Alzheimer’s.
Early Onset Genes
Return
Next
To test, or not to test
Genetic testing can provide valuable information about your risk and help in early planning and intervention. However, it also comes with potential emotional, ethical, and privacy concerns that need to be carefully considered.
Pros
Better mental and logistical planning
for potential caregiving needs
Cons
Can take proactive steps to reduce risk, such as adopting the MIND diet and regular exercise
Mental comfort if results come back to be negative
Cons
Emotional distress for individuals and family members
Fear of insurance companies or employers misusing information
Not fully understanding test results due to lack of access to genetic counselling
Return
Next
Privacy concerns and genetic testing
Many people worry about the privacy concerns of genetic testing, and how a test confirming genetic risk of Alzheimer’s or another form of dementia could impact their insurance among other things. The US Genetic Information Non-Discrimination Act (GINA) of 2008 was intended to provide protections but it fails in important ways.
“The act only deals with employment and health insurance, but it doesn’t deal with life insurance and probably most significantly, it doesn’t deal with disability insurance or long-term care insurance.
Hank Greely
READ More
LEarn More
Return
Next
Privacy concerns and genetic testing
While many insurance providers don’t require people to disclose their genetic test results, insurers in theory could use this information to determine whether or not to provide long-term care coverage for a healthy individual and their family members in the future.
READ More
LEarn More
Return
Next
Robin McIntyre’s experience with genetic testing
Robin McIntyre learned at age 29 that she carries a Persenilin mutation associated with early-onset Alzheimer’s. Since 2010, 16 of McIntyre’s relatives have died of Alzheimer’s before age 60, including her mother, uncles, and several cousins. McIntyre spoke to Being Patient about her decision to undergo genetic testing to learn her status.
LEarn More
Return
Next
Robin McIntyre’s experience with genetic testing
“Knowing that I had a 50-50 chance of passing that on to my own offspring was a major decision factor in that. I really didn’t want to put children through that…I had been through genetic counseling and knew what the risks were of finding out or not finding out. I waited a few years before I asked; I didn’t want the results to start dictating my life. I didn’t want Alzheimer’s disease to define who I was. But it turns out, it’s everything I am. I met with the medical team at the University of Pittsburgh Medical Center, and asked them to reveal my genetic status….I felt like knowledge was power.”
LEarn More
Robin McIntyre
READ More
Return
Next
Test results and clinical trials
Being a carrier may increase your chances of getting into clinical trials, an important consideration when Wendy Nelson decided to undergo genetic testing.
“Five or six years ago, I used to not want to know because there was nothing you could do if you were found to carry it or prone to get it. They say you can eat healthily and you can exercise. I do those, but my mom did them too. I’ve watched the clinical trial space and know that they’re trying to get people onto clinical trials earlier and that being a carrier qualifies you for some clinical trials now. So, that’s part of the reason I decided to find out…”
LEarn More
Wendy Nelson, carrier of ApoE4 gene
READ More
Return
Next
Being prepared for the results
Having the Alzheimer's gene does not mean you will have the disease.Jamie Tyrone has two copies of the APOE4 "Alzheimer's Gene", and she shares why it is important to talk to a genetic counselor.
"It came back that I had two copies of the APOE4 gene...Had I interacted with [a genetic counselor], I think I would’ve been much more prepared for this information... I’m going to do whatever I can to make sure nobody has to have the same experience as I did and help people make the decision as to whether or not they want to test."
Jamie TyroneFounder of Beating Alzheimer’s By Embracing Science (BABES)
LEarn More
READ More
Return
Next
The Jalisco gene
Andres Martin carries the Jalisco gene, a rare genetic mutation that causes early-onset familial Alzheimer’s and impacts families from Jalisco, Mexico. He advocates for research involvement to give scientists a greater chance to develop ways to help younger generations. He is currently undergoing transcranial magnetic stimulation that delivers magnetic pulses into the brain and is a participant in the DIAN study.
Listen to Andres
Return
Next
What happens in a DNA test
You need to provide a saliva sample, after that results will be available in a few weeks. Some people also consult a genetic counselor to better understand their test results. Typically, a DNA test costs US$100-1,000.
1. Order test kit
2. Provide sample
3. Return sample
4. Get results
LEarn More
Return
Next
New beginnings after an MCI diagnosis
Being Patient interviewed Marwan Sabbagh, MD, he talks about how genetic testing was considered taboo a few years ago, but now more commonly used.
“We went from not talking about [genetic testing] at all to now using it for risk stratification because we know that if you’re an ApoE4 double copy, your risk of having complications with the monoclonal [antibody treatments for Alzheimer’s] is quite high.”
Marwan SabbaghNeurologist
Read more
Return
Next
Diet and brain health
Being Patient interviewed Dr. Hussein Yassine, director of the USC Center for Personalized Brain Health, he shares insights on the link between eating patterns and brain health, particularly for those with genetic risk of Alzheimer’s disease.
“We know that the MIND diet, which is a combination of the Mediterranean diet and the DASH diet, is particularly good for the brain…People who start these healthy diets before they have a diagnosis of disease tend to have more [benefits] than after the diagnosis of disease.”
Hussein YassineDirector, USC Center for Personalized Brain Health
Read our guide on diet and brain health!
Read the Interview
Return
Next
Protective genes
While some genes increase Alzheimer’s risk, other genes appear to be protective, lowering it. Scientists are studying the protective powers of a gene called FN1, which appears to counteract the effects of ApoE4.
Read more
Return
Next
Scientific ways to reduce risk
Genes are affected by other genes, lifestyle, living environment, demographics, and other factors.
Environment
Pollution
Living Conditions
Higher levels of PM2.5 air pollution, which can come from agriculture and wildfires, were linked to a higher number of dementia cases developing over time.
Lifestyle
Mental Exercise
Diet
Physical Exercise
The effect of genetic factors was found to be lower in physically active participants. Similarly, an obese person could reduce the effect of their genes by making lifestyle changes.
Return
Next
What’s next in genetics research?
Considering Alzheimer’s disease’s genetic links, scientists are exploring targeted therapies to address familial Alzheimer’s through our DNA.
Gene therapy
Researchers are studying whether editing or delivering protective genes could prevent Alzheimer’s.
Stem cell therapy
Scientists are exploring the use of stem cells in Alzheimer’s research. While stem cell therapy is accessible, experts say the evidence behind these treatments is lacking..
LEarn More
Return
Next
Explore more resources at beingpatient.com
LEarn More
Return
Next
Want to learn more?
Visit
beingpatient.com
for the latest news and information on brain health and Alzheimer's disease
Return