[Ver.2] Genetic Testing Course

The guide to

Genetic testing for Alzheimer's

Alzheimer's genetic testing

Test results & what's next

Alzheimer'srisk genes

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Before we begin...

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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

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Data SOURCE

Early onset genes

Early onset Alzheimer’s:

• Younger than 65, as early as 30s

• 5-10% of cases

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

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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

Cons

Better mental and logistical planning for potential caregiving needs

Emotional distress for individuals and family members

Can take proactive steps to reduce risk, such as adopting the MIND diet and regular exercise

Fear of insurance companies or employers misusing information

Not fully understanding test results due to lack of access to genetic counselling

Mental comfort if results come back to be negative

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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.

Genetic Carrier's Perspective

“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…”

Read more on beingpatient.com

Wendy Nelson, carrier of ApoE4 gene

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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.

Genetic Carrier's Perspective

"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)

Read more on beingpatient.com

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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.

Order test kit

Return sample

Provide sample

Get results

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Progression of genetic testing

Being Patient interviewed Marwan Sabbagh, MD, he talks about how genetic testing was considered taboo a few years ago, but now more commonly used.

Neurologist's Perspective

“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 on beingpatient.com

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Guide On Diet And Brain Health

Test results and clinical trials

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.

Neurology and Nutrition Expert's Perspective

​​“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.”

Read our guide on diet and brain health!

Hussein YassineDirector, USC Center for Personalized Brain Health

Read the Interview

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Scientific ways to reduce risk

Genes are affected by other genes, lifestyle, living environment, demographics, and other factors.

Environment

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.

Living Conditions

Pollution

Lifestyle

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.

Mental Exercise

Physical Exercise

Diet

Read our guide on 12 Ways to Help Prevent or Delay Alzheimer's

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Want To Keep Learning?

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