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

Continue reading “Genetic Rant & Roll – The Miniseries: Part 7”

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Genetic Rant & Roll – The Miniseries: Part 7
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Genetic Rant & Roll – The Miniseries: Part 3

First the disclaimer: I am not a doctor or a biochemistry or a geneticist. Do I know what I am talking about? Hell, no! But I got this chart that says I have eight, really crappy, five moderately crappy and two decent genes and I have no idea what any of these 15 pairs of genes does. Trying to find out.

Just remember a little knowledge can be a dangerous thing….especially when it comes from someone who does not know what she is talking about!

Our first gene pair is ABCA1. ABCA1 is associated with macrophages, or ‘big eater’. Greek like Latin always makes things sound much cooler than they sound in English. Macrophages are part of the immune system and ‘eat up’ things that should not be in your system. (I have asked a medico whose wife I know to explain the complementary immunity system to me in English words of five or fewer letters. I will let you know when I understand it, but I think there is a connection here.)

Anyway, ABCA1 moves fats from the inside of the cell to the outside of the cell. Sounds like sort of a cellular level garbage man to me, or maybe the teenage son taking the garbage to the curb would be a better analogy.

Once the fat is outside the cell – or on the curb in our analogy – our ‘garbage man’, a protein manufactured by the APOA1 gene, comes around to pick it up. I am not sure the status of my APOA1 garbage man. I did not get that one in the report. However, if the fats are not getting to the ‘curb’ we can expect them to build up In the cell. Although my source – the Genetics Home Reference – does not say this, I think this is related to drusen.

I have a moderately crappy APOE gene pair. My guess is APOE is a brother or cousin to APOA1. The APOE gene produces proteins that bind with fats and carry these fats from the cells and through the bloodstream. Perhaps the analogy here would be the garbage truck. People with good copies of the APOE gene have fancy, self-contained garbage trucks to transport the fats. Nothing flies out of them into the bloodstream ‘street’. APOE is one of my moderately crappy genes so my garbage truck may be a dump truck. Things sometimes fall out. People with really crappy APOE genes have garbage flying off all of the time.

If your garbage is fat and your street is your bloodstream, all sorts of cardiovascular problems can happen because of substandard transportation. Fortunately, even with one bad copy of the gene, my cholesterol is good. Maybe I avoided that problem. However, with crappy copies of the APOE gene I discovered I MAY have an increased risk of developing Alzheimer’s. Happy, happy, joy, joy. Just what I needed to make my day! [Lin/Linda here: we’ll discuss this more in coming pages because I, too, have the same genotypes for APOE & we both have a parent who had a form of dementia so this is important to us.]

So those are the first two genes on my list of 15. In my analogy – or perhaps it is a metaphor – I have a lazy kid who is supposed to be taking the garbage out but doesn’t, an unknown quality as a garbage man to pick it up and a garbage truck that loses things from its load. My inefficient disposal system means that lipids – affectionately known as eye poop in these pages – get left behind and pile up. Not sure if I am anywhere near being correct but I sort of like the explanation. Make sense to you?

Next up: ARMS2 Continue reading “Genetic Rant & Roll – The Miniseries: Part 3”

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Genetic Rant & Roll – The Miniseries: Part 3
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Genetic Rant & Roll – The Miniseries: Part 2

Yesterday I threw a mini pity party for myself. This is a long road. It is a marathon and not a sprint. It should not be considered unusual to ‘hit the wall’.  It happens once in a while.

School was in full holiday mode, but I had reports with deadlines during the break. A true professional gets things done. On time. I stuck with it.  Then the people who were going to take me into the city bailed on me. Too much to do in too short a time.

I had been holding it together. Thinking about getting out of this one-horse town even for one day. Once I lost my opportunity, I started ‘jonesing’ for a change of scenery bad. Real bad. I also had a few words to think about inconsiderate people who get going blind old ladies’ hopes up and then renege. I was in high dudgeon!

Then, my dears, the pièce de résistance for the whole, lousy day. I got my genetic profile back from Arctic. Eight pairs of high risk genes, five pairs of moderate risk genes and two ‘good’ pairs.

Really???? I got dealt THAT bad a hand? My percentile rank was 97. I ‘beat out’ 97 out of every 100 people in the crappy eye genes category. Yippee. I ‘won’.

Lin literally, and I mean direct quote, looked at my results and typed “I’m sorry you have such shitty genes.” Friends can say things like that. Especially when it is true. [Lin here: And when friends don’t know what else to say.]

Maybe we should put that on a greeting card. With all the genetic testing that is soon to go on there is going to be a need for shitty genes sympathy cards. Maybe we can sell the idea to Hallmark.

Anyway, now I know why I am 63 and have the eyes of an 83-year-old. Crappy eye genes. REALLY crappy eye genes.

I have my consultation on the results early next week. See if I can understand any more about it.

But that is next week; the more pressing question for this page was how not to let my disappointments get me too far down. Circling right around again, I decided to use some – ready for it? – mindfulness! (Told you it’s a panacea.)

A big part of mindfulness is staying in the moment. The missed trip was going to be in the future. My graph looked to me as if I would be pretty much ‘completely’ blind in seven years. [Lin/Linda here: we’ll talk more about this later.] In the future. At the time I was mulling over all these negative thoughts, I was fine. If I cannot control what will happen in the future, why worry about it and ruin the now?

So I pushed it away (DBT alert!), went to yoga, then came home and listened to an audiobook. Sacrificing the now to worry about a questionable future does not make a lot of sense. Seven years from now I may have had stem cell infusions and my crappy eye genes are no longer relevant. New RPEs and I am ready for my next 63 years.

Early next week I get to talk to Arctic about my results. I will try to analyze some of the data myself between now and then.

In the meantime for you? When you hit the wall, bounce. Remember it is normal but also remember most of what we worry about isn’t even here and now. Enjoy the present. The future will sort itself out.

Continue reading “Genetic Rant & Roll – The Miniseries: Part 2”

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Genetic Rant & Roll – The Miniseries: Part 2
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Genetic Rant & Roll – The Miniseries: Part 1

First the disclosure statement: we actually got our first ‘perk’ for doing this webpage. ArcticDX, the parent company for Macula Risk and VitaRisk genetic testing, has provided Lin and I each with a free genetic test Vita Risk to see if we have the genotype that interacts with zinc and makes your AMD deterioration progress more rapidly than those without it.  The price quoted to the public for these tests is $500 each without insurance, $50 copay if an insurance covers it.

That said, we have no intention of letting these generous gifts cloud our judgment about whether we think the information was valuable, etc. However, we will be using their products, talking about their products and consulting with their genetic counselors because we have been able to use their product for – one of my magic words – free. If you have a genetic testing company and wish to extend us free services, we will write about your company also.

OK. Thanks to Gerry and all of the folks at Arctic. It is exciting for us to think you believe in us and the quality of what we are doing enough to want to be associated with us.

I got my kit midweek and just got around to opening it this morning. I had wanted to give myself plenty of time to do it because I am really lousy at following directions. Fortunately for me directions were pretty basic and straightforward. You open the envelope, run one brush around the inside of one cheek, scraping 20 times, and then scrape the second brush on the inside of the second cheek. I did it first thing in the morning, before breakfast, so there was no stray DNA in my mouth. Never really thought of chicken or pig DNA being in my mouth after a big breakfast, but it would make sense.

I thought my cheeks would be tender but I hardly felt it. The brush is very gentle.

The kit is now sitting in the mailbox waiting for the letter carrier to pick it up and send it on its way. Not sure how long it will be.

The literature that came with the kit is possibly a little more optimistic than I would like, but this is the nature of advertising. I don’t believe medicine is quite able to apply genetic information in determining treatment and management strategies as well as the brochure suggests. Someday. I am interested in seeing what kind of ‘personalized treatment’ is going to be suggested. [Lin/Linda: at this point in time, the results can provide guidance to eye professionals as to creating treatments plans (how often to have an office visit, how often to have various eye tests) and whether AREDS supplements are advisable and with or without zinc.]

That is our most recent venture into the brave new world of AMD and vision loss. Please keep in mind: we are two sets of experiences, two opinions only. If you have experienced or believe something different – or even if you back us up for that matter – let us know. We are on this journey of exploration together.


Lin/Linda: I do not have AMD so there is no way my insurance would have paid for a test for me.  However, I do have a family history and I am the “right age” as the company representative told me & it will tell me if I’m one of the ‘zinc sensitive’ people.   Neither of us could benefit from and we did not have the Macula Risk test that ArcticDX has which includes a 10 year prognosis.  The prognosis shows estimated progression to advanced AMD which is what Sue has.  And I don’t have AMD.

 

Click here for contact information for ArcticDX.

 

 

 

Click here for other sources of genetic testing for AMD through the US National Center for Biotechnology Information (NCBI), a division of the National Institute of Health. This is their Genetic Testing Registry with labs around the world not only in the US.

Continue reading “Genetic Rant & Roll – The Miniseries: Part 1”

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Highlight: Is AMD genetic?

** Under construction **

under_construction (3)

There are several aspects of genetics as related to AMD:

  • Familial/hereditary aspects
  • Research to identify genetic markers for AMD
  • Genetics related to the effects of high zinc in AREDS vitamins formulations.

Heredity

Statistic for those with family history of AMD, lifetime risk for developing late stage AMD is 50% for people who have AMD versus 12% for people who don’t have relative with AMD; that’s 4 times the risk of AMD if a relative has or has had it.

Genetic markers

Overview of one research study that has isolated some genetic markers for AMD

Genetics & AREDS vitamins

For those with the intermediate stage of dry AMD, the high dose of zinc (80mg) can help some people but hurt others. There are genetic tests that help determine if a person can be helped or hurt by the AREDS/AREDS2 vitamins.

Click here to read more about this genetic test.

Breaking news: vitamins may be harmful to some people

Press release MDA: warning about zinc in AREDS/AREDS2 formulas

Genetic Testing

Lists the tests available and the important role of genetic counseling after testing

 

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Highlight: Is AMD genetic?
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