Question about genetic testing!

[Spookygal]

Hi guys -

I’m sure most of you got generic testing after learning about your BAV/TAA/whatever else -

Can anyone tell me the steps in doing that? I’m feeling … pellicle cover your ears … *anxious* about not knowing if I have a connective tissue disorder and feel like I need to know that ASAP but have no idea how to get started. Should I ask my PCP? Cardiologist?

Thanks!

 

[pellicle]

I’m sure most of you got generic testing after learning about your BAV/TAA/whatever

I'm personally willing to bet you a beer that its in the minority.

I'd suggest that some of that reason is the "your DNA record is in the wild" and that may influence you children, and your childrens children ... for time to come

https://techcrunch.com/2023/12/04/23andme-confirms-hackers-stole-ancestry-data-on-6-9-million-users/

My view is that knowing genotype does not ensure that you know how that gene is actually expressed in you. Meaning it simply states (without looking at you) the probability of X or Y attribute.

Looking at you is always going to be a more reliable way to find out what you have.

I recommend you watch GATTACA





https://www.imdb.com/title/tt0119177/

sometimes not knowing leads to a better life than "knowing" (but what you "know" is wrong). Again, GATTACA

Best Wishes

 

[pellicle]

Oh, and PS ... even before I found the evidence that it was genetically linked I knew that it must be genetically linked. What I didn't know at that time (we're talking about 1980 here) was what was the probability I could pass that on to my kids.

Being a bit driven by this no doubt drove my choice to do Biochemistry and focus on DNA.

Long after that I came to the view that it didn't matter; it didn't matter because I know I'm a better person for having struggled, for having had challenges, for having had to fight to be what I became.

Humans do better in adversity than wrapping themselves in a risk free box of cotton wool. I'm not the only one to think this way, you'll find that sentiment across literature (from the classics like Steinbeck through to scifi such as Dune (1965) to the Matrix(1999))

Life is only worth it if we earn what we get.

 

[Survived03]

There is a company called Invitae that does genetic testing for AAA risk. I believe your doctor needs to request and you may have a short battle with your insurance company. I am different from Pellicle because I do like to have as much information as possible when making decisions, albeit non conclusive. If you prepare yourself for the results and understand that odds ratios are different than a yes/no diagnostic test then you should be able to accept the results. My personal reasons for testing, besides knowing my generational “gift”, was that I was searching for the ahah moment to move me along and making my decisions on timing of my second surgery. As it turns out, I was negative.

Regarding your dna being in the wild and open to judgment by insurance companies, etc., the DNA Act of 1994 and your Fourth Amendment constitutional rights also protect your DNA and privacy.

 

[Chuck C]

There is a company called Invitae that does genetic testing for AAA risk.

By AAA, would they be testing for the possibility of abdominal aortic aneurysm?

Or are they testing for the possibility that you will end up in a meeting in which the dialogue goes about like this:

"Hi, my name is Bob"

"HI BOB!!!!"

 

[pellicle]

I am different from Pellicle because I do like to have as much information as possible when making decisions

First time I've been accused of that

Regarding your dna being in the wild and open to judgment by insurance companies

I wasn't even thinking about insurance companies, nor even her lifetime (hence the children's children reference)

 

[Survived03]

Ascending Aortic Aneurysm Bob!

 

[Survived03]

First time I've been accused of that

Now that you point it out, it was a squirrelly thing to say. My apologies.

 

[AZ Don]

When I found out that I had an Aortic Aneurysm (and later learned also BAV), I went to Mayo clinic in Phoenix. They offered the option of genetic testing, which I took. While they know of some genetic issues that they can identify, such as Marfans, and I think Ehler-Danlos and possibly one other, which may be related, I was cautioned that there are likely other genetic conditions associated with Aortic Aneurysm that they have not yet identified. That was almost 11 years ago. Getting genetically tested may help them find these other, unknown genetic conditions, but I had no known associated conditions. I would think that genetic testing might be more important if you have reason to suspect that you have a known connective tissue disorder, in which case it may be possible to diagnose without genetic testing, or if perhaps there are more known conditions than there were when I was tested.

 

[pellicle]

My apologies.

Don't be silly, I was just kidding around

 

[pellicle]

Ascending Aortic Aneurysm Bob!

https://bobiverse.fandom.com/wiki/We_Are_Legion_(We_Are_Bob)_Wiki
The Bobiverse is the story of Robert "Bob" Johansson, who, after becoming financially independent by selling his software company, decides to spend some of his money by contracting to have his head cryonically frozen by CryoEterna Inc. upon his death. The idea is that his head would be preserved until later, when technology permitted a body to be grown and his thawed head attached to it - thus resuming life. The next day he is unexpectedly killed in an automobile accident. He wakes up 117 years later to find that he has been harvested from his frozen head and installed as simulation in a computer matrix to be an artificial intelligence. The series follows Bob as he is installed into the first Von Neumann Probe, to explore and replicate across the galaxy.

 

[pellicle]

decides to spend some of his money by contracting to have his head cryonically frozen by CryoEterna Inc. upon his death. The idea is that his head would be preserved until later, when technology permitted a body to be grown and his thawed head attached to it - thus resuming life.

and if that sort of fiction grabs you, you should totally read

(*image is link to wikipedia)

 

[pellicle]

They offered the option of genetic testing, which I took.

sure glad I didn't bet "nobody" ;-)

(*not that I'd shirk buying that beer)

 

[pellicle]

I would think that genetic testing might be more important if you have reason to suspect that you have a known connective tissue disorder, in which case it may be possible to diagnose without genetic testing, or if perhaps there are more known conditions than there were when I was tested.

to my knowledge this area is still mostly "fiction" (in that people read genetic testing and think star trek), but as you suggest if (all) your records (your being the 3rd person infinitive) are kept (including tissue samples and details of autopsy) then this will eventually help build a body of evidence.

However there are (as always) mitigating factors and we are finding such interesting things as having "hitchhiking viral DNA" can actually switch from being "midly harmful" to the organism to being life saving to the organism when "starvation" situations are encountered ("" being used for hand sweeping generalisations Eg the plant does better in dire drought situations because the DNA turns on a water regulating pathway)

To me the best possible use of genetic testing is to get tested very young and then use that to guide life choices; Eg "high propensity for (specific) type of cancer = lifestyle changes to avoid known provocations of that form of cancer"

When one is on ones 50's and higher then the possibility of steering that "immensely heavy" ship onto a different course becomes harder.

Then there's the fact that (statistically) people who are going to "smoke and drink too much booze" won't change even if you show them evidence.

¯\_(ツ)_/¯

Best Wishes

 

[Spookygal]

to my knowledge this area is still mostly "fiction" (in that people read genetic testing and think star trek), but as you suggest if (all) your records (your being the 3rd person infinitive) are kept (including tissue samples and details of autopsy) then this will eventually help build a body of evidence.

However there are (as always) mitigating factors and we are finding such interesting things as having "hitchhiking viral DNA" can actually switch from being "midly harmful" to the organism to being life saving to the organism when "starvation" situations are encountered ("" being used for hand sweeping generalisations Eg the plant does better in dire drought situations because the DNA turns on a water regulating pathway)

To me the best possible use of genetic testing is to get tested very young and then use that to guide life choices; Eg "high propensity for (specific) type of cancer = lifestyle changes to avoid known provocations of that form of cancer"

When one is on ones 50's and higher then the possibility of steering that "immensely heavy" ship onto a different course becomes harder.

Then there's the fact that (statistically) people who are going to "smoke and drink too much booze" won't change even if you show them evidence.

¯\_(ツ)_/¯

Best Wishes

Okay I’m coming clean here so basically I went down a very intense Reddit/Google rabbit hole last night and maybe cheated on you guys A LITTLE and asked a TAA Reddit group and since I’m 34 with these issues (youngish) I got a lot of “omg you should do genetic testing” especially for the risk of VEDs (vascular ehlers) which is by far the most deadly to have. I think lifespan when you have this gene is like mid 40’s because your aorta dissects. So needless to say now I’m hyper aware and worried and have been calling everywhere to see where I can get genetic testing done lol I think surgery is at a lower threshold if you have this gene also. So. That’s where I’m at.

I saw some mention of that Invitrea or whatever gene thing which I’m interested in but also after some research, see they’re filing for chapter 11 so lol not sure what that means.

 

[Spookygal]

When I found out that I had an Aortic Aneurysm (and later learned also BAV), I went to Mayo clinic in Phoenix. They offered the option of genetic testing, which I took. While they know of some genetic issues that they can identify, such as Marfans, and I think Ehler-Danlos and possibly one other, which may be related, I was cautioned that there are likely other genetic conditions associated with Aortic Aneurysm that they have not yet identified. That was almost 11 years ago. Getting genetically tested may help them find these other, unknown genetic conditions, but I had no known associated conditions. I would think that genetic testing might be more important if you have reason to suspect that you have a known connective tissue disorder, in which case it may be possible to diagnose without genetic testing, or if perhaps there are more known conditions than there were when I was tested.

Good info here! Thats what I’m worried about, a specific Ehler-Danlos. The vascular one. Which is pretty significant and deadly apparent. I guess with my age (34) and having BAV and a TAA - that could point in the direction of a connective tissue disorder - even though my cardiologist said “I’m not tall enough for Marfan’s”. I’m at 5’9 though! Seems tall to me.

 

[Spookygal]

First time I've been accused of that



I wasn't even thinking about insurance companies, nor even her lifetime (hence the children's children reference)

I’m 100% positively not having kids either

 

[Spookygal]

Oh, and PS ... even before I found the evidence that it was genetically linked I knew that it must be genetically linked. What I didn't know at that time (we're talking about 1980 here) was what was the probability I could pass that on to my kids.

Being a bit driven by this no doubt drove my choice to do Biochemistry and focus on DNA.

Long after that I came to the view that it didn't matter; it didn't matter because I know I'm a better person for having struggled, for having had challenges, for having had to fight to be what I became.

Humans do better in adversity than wrapping themselves in a risk free box of cotton wool. I'm not the only one to think this way, you'll find that sentiment across literature (from the classics like Steinbeck through to scifi such as Dune (1965) to the Matrix(1999))

Life is only worth it if we earn what we ag

There is a company called Invitae that does genetic testing for AAA risk. I believe your doctor needs to request and you may have a short battle with your insurance company. I am different from Pellicle because I do like to have as much information as possible when making decisions, albeit non conclusive. If you prepare yourself for the results and understand that odds ratios are different than a yes/no diagnostic test then you should be able to accept the results. My personal reasons for testing, besides knowing my generational “gift”, was that I was searching for the ahah moment to move me along and making my decisions on timing of my second surgery. As it turns out, I was negative.

Regarding your dna being in the wild and open to judgment by insurance companies, etc., the DNA Act of 1994 and your Fourth Amendment constitutional rights also protect your DNA and privacy.

That’s where I’m at. I’m an OCD anxious person and having info both makes me crazy and also puts my mind at ease. Lol. But I’m now very worried about the results- albeit it’s seemingly impossible to find info to get it done.

I saw Invitae - but also see they’re now filing for chapter 11 - would that persuade your decision in anyway? If not, gonna order today

 

[pellicle]

Okay I’m coming clean here so basically I went down a very intense Reddit/Google rabbit hole last night and maybe cheated on you guys A LITTLE

You should always "cheat" on " us* because it's about you.

I've been on reddit for over ten years, low opinion. Very low.

 

[Spookygal]

You should always "cheat" on " us* because it's about you.

I've been on reddit for over ten years, low opinion. Very low.

Yeah it’s crazy on Reddit haha.