Genetic Rant & Roll – The Miniseries: Part 7

Lin/Linda here, my turn.  I want to clarify that a lot of what I knew about the test came from my email interactions with Gerry at ArcticDX before he offered to have Sue and me tested. This is what he said in his first email in November 2016 about what information their testing gives:

  1. What type of supplement you should use (AREDS with zinc or a zinc-free equivalent) – that’s their Vita Risk test which is what we had done.
  2. What is your risk of losing your vision to AMD (for those with early or intermediate AMD) – their Macula Risk test (also includes supplement recommendations) which is the test done for most patients.

He also said that this testing would normally be done through a physician’s office and discussed with them as well as with the genetic counselor that the company provides. Each of us spoke to the genetic counselor.

Before the test, the only thing that I really was expecting to find out was if I am zinc sensitive.  Since my father had AMD which progressed to Geographic Atrophy, I knew my risk would be higher than someone with no family history.

This is what Gerry told me about my results:  “1.  You have 0 bad copies of the ARMS2 gene and you have 2 bad copies of the CFH gene which puts you in the ‘zinc is bad for you’ category;   2. Overall, you have an elevated, but not high, genetic risk of 81 percentile.”

I’ve had quite a few statistics courses but I’ve never been good with numbers and it was a long time ago! I did what I tell people NOT to do: I looked at the 81% and that’s what I thought my risk was.  Before this I’d read that with a 1st degree relative with AMD, the risk would be 50% so 81% looked quite a bit higher!! I admit that I had a moment of panic. I wonder why they chose to put the % there?

I went back to Gerry who helped me to remember what percentile means.  He said “Genetic risk percentile describes how good or bad your AMD genes are – an 81 means that out of a random 100 people, 19 people will have it [AMD] worse than you, and 81 the same or better – this will never change – it’s DNA.”   I remember he told me that our genetic risk accounts for about 60% of the overall risk, that the other factors are things like age, race & eye color that we can’t change but some that we can such as diet, weight, overall health.  So there are things that I CAN do to improve the odds.

At least I was able to tell Sue that she WON with the worse genes of the 2 of us – she’s so competitive! ::grin::

Back to the Genetic Features part of my report, I did ‘my count’: 3 low risk, 4 medium risk and 8 high risk genes.  I honestly didn’t know what that really means but figured it went into the mix for calculating my percentile – and it does. It wasn’t until Sue started to do in-depth research into her specific high-risk genes that I even thought about looking at them individually.

We’d both read that the APOE gene was related to the risk of developing Alzheimer’s Disease and AMD but there’s been no hard evidence exactly how.  Sue initially thought that because it showed ‘medium risk’ on her report (as it did on mine, too) that it not only meant the risk in regard to AMD but also Alzheimer’s Disease (Part 3).    The results of testing the APOE gene here is for the risk of AMD, not for Alzheimer’s.  The Alzheimer’s Association says that genetic testing for Alzheimer’s Disease is very complicated and controversial.

Bottom line about APOE risk as shown on our reports: it doesn’t give us enough data to say anything about our genetic risk for Alzheimer’s Disease.

Next:  the graph and supplement information

Next: Genetic Rant & Roll – The Miniseries: Part 8

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