Peering at our mortality

Here’s a question to ponder upon…. If you were to be able to do a test that would tell you about your genetic risk of developing Alzheimer’s Disease (AD) in the future — would you take it?

I recently had to personally grapple with this question and thought it interesting to share with you. I’ve kept it scientific today but one could definitely go down some other rabbit holes such as “Do we actually die?”

But let’s avoid all that and stick with the question at hand.

Would you take a test to find out if you were going to get Alzheimer’s?

So there’s a lot to unpack here to make a good decision — I wanted to make sure I took one that I wouldn’t regret later on.

What is Alzheimer’s disease — Is it important to know about?

In this case Alzheimers is a pretty common illness — the prevalence is about 25% of those who reach 80 and increases by 20% by decade after that.

It is also a severe illness that is progressive, debilitating, causes suffering that ultimately leads to death.

So it ’s common and yes it’s something I would want to avoid. I’ve also firsthand seen many patients with Alzheimer’s dementia (AD) and it sure sounds like the suffering is intense.

Personally losing my ability to think and remember seems more scary than losing one of my senses (eyesight, smell etc) or a function (walking).

Then there’s the pain and suffering that my loved ones would feel and the burden that would be placed upon my caregivers.

Now that I’ve established that getting Alzheimer’s would really be horrible — is there any way to prevent and or treat it?

In the past, a diagnosis of Alzheimer’s was considered a death sentence. There were no treatments available and and little was known about how to prevent the getting the illness and its progression.

Scientists have a better understanding of what causes AD now. They believe it is caused the accumulation of beta Amyloid plagues and neurofibrillatory TAU tangles. These changes impair the ability of neurons in our brains to function and ultimately die.

Once you have a diagnosis of AD, the medications that are traditionally available don’t seem to slow the progression of the disease but they may provide some relief of the symptoms. There may be some new hope. There is a new medication called Aduhelm that was approved by the FDA for the treatment of AD . It works by removing the accumulation of Beta Amyloid in the brain. There is still some controversy on how effective the medication so time will tell about its usefulness.

It appears that prevention of AD is probably where we need to focus on. We do know that there are certain risk factors apart from genetics that seem to be associated with AD. DHA levels (a specific form omega 3 fatty acid found in cold water fish and algae), cardiovascular disease, exposure to toxins , and glycemic control all seem to be important factors.

How important is our genetic makeup in our overall risk of getting Alzheimer’s?

Scientists don’t have an exact answer on this because up until recently, they didn’t know very much about the genes that can predispose us to AD. Most of our understanding of the genetic risk came from looking at the ApoE allele status. (Here is an excellent review article from Nature) For the ApoE gene, there are 3 known alleles (E2, E3 and E4) and we each carry 2 copies of the allele. E2 is protective, E3 has no additional risk or benefit and E4 has additional risk. One copy of the E4 allele can predispose you to double the lifetime risk of AD. 2 copies of E4 would place the individual at 10x the risk of AD!

Although important, unfortunately ApoE allele status didn’t seem to provide the whole story on one’s genetic risk. I go into some detail in my podcast discussing this with Dr Richard Pither of Cytox Labs about the limitations of ApoE testing and the value of a polygenic risk score for AD. The summary here being that there is a now a genetic polygenic risk score test for AD that is much more accurate about your genetic risk for developing AD than ever before. (if you want to learn more send me a quick note — drg)

The Bottom Line

AD is a very prevalent disease as one hits older age. It is severe and causes a great deal of suffering for the person who gets it as well as those around them. There aren’t any great treatments yet to reverse AD at this moment (the jury still out on efficacy of new medication recently approved) but we do have better understanding of the environmental, lifestyle and nutritional factors that increase or decrease one’s risk of getting AD — (more on that in future posts)

If you have a family history of a relative having AD then it makes sense to get yourself tested with the new genetic test to find out whether you are predisposed. Perhaps one caveat, if you are someone who would be paralyzed by the fear of knowing you have a risk of getting Alzheimer’s then I would take a long hard careful look at your decision.

My answer to the question we started with — I’ve gone ahead and had my genetic test for Alzheimer’s done. I’ll keep you apprised on how it goes…..

If you enjoy listening to the experts who are leading the revolution into our understanding on aging and longevity — you may want to visit my membership page at Peak Human when you can gain access to all my podcasts and exclusive content.

And as always, even though I am a medical physician and I’ve attempted to provide the most accurate information on this topic that is currently available: the views above are my mine alone. The views expressed above are NOT medical advice and I encourage you to do your research and consult with your health care provider if you want to take action.

Dr G

e — Drgoel@peakhuman.ca