Want to know more about genetic testing

[popmom]

Just scrolling through some threads that I can relate to, and I'm seeing all this interesting-ness that is genetic testing. How could this benefit my ASD child or my ADD-inattentive teen? Or me, even? Goodness knows I have my issues. None of our doctors has ever suggested this.

 

If I don't hear from anyone tonight...See you on the other side of the #GreatWTMBlackout!

Edited March 24, 2018 by stephensgirls

[PeterPan]

Supposedly there are MAPS doctors doing this. You would learn about it through TACA on FB. I've never been to a MAPS doctor and have no plans to. 

 

There's also a field called "genomics" where people are studying under other self-appointed gurus to learn how to interpret genes and genetics results into supplement lists.

 

An there are companies/vendors who will crunch your data and recommend lists. Yasko has a site doing that, but you can run your data through for FREE at KnowYourGenetics.com I also just ran the list from a site Prairiemom (sorry, name not precise) posted on Chat. Ok, it was Pure Genomics. StrateGene and GeneSight both have lists they check also.

 

So everything I'm doing, I'm just working backwards. Any gene SNP you find listed on another site you can punch (typically by the rs#) into 23andme and get back what your results were. There's no interpretation there, but you can see your results and compare it to what that other site is claiming. 

 

I've doubtless missed things by doing it myself, hack style, but I figure you can only start or incorporate so many things at once, kwim?

 

Yes, to me it's pretty logical to spend the $79 and do it if you think you have pesky symptoms you can't explain. If you're living honkey dory lives, there's nothing to solve or explain or figure out or improve, kwim? But if there's a question you want answered or something you wish you could improve, seems pretty reasonable. If I had only found ONE of the things I found, it would have been worth the pitiful $79, and instead I found multiple, multiple things that have allowed us to target and work on issues with precision, boom. 

 

And we found out cool stuff, like how we process cocaine, whether we're going bald, and whether our grandchildren could be redheads. :D

 

SaveSave

Edited March 24, 2018 by PeterPan

[popmom]

That is pretty amazing. Thanks for the info. I'm going to look into this further.

[Crimson Wife]

You may find out that what is labeled "autism" is actually a specific genetic syndrome. There are currently at least 53 different single-gene mutations known to cause autism. This is on top of more common genetic syndromes like Rett Syndrome and Fragile X Syndrome.

 

It took 6.5 years and going from one doctor to the next before we finally got an accurate diagnosis for my DD. Whole Exome Sequencing is enormously expensive however if insurance doesn't pay. To the tune of $17k for the chromosomal DNA + mitochondrial DNA. 23andme wouldn't have identified my child's syndrome because it's far too rare for them to be testing for it.

[PeterPan]

Yes, 23andme is doing SNPs, not whole exome. It's tons of data, and if you put it through promethease you can get red/green flags for things known to be issues. They're just basically using SNPedia much of the time, so it's not some incredible source. 

 

I submitted a sample to Genes4Good for testing and I'm curious to see if that ends up whole exome or SNPs, dunno. 

 

Oh, back to promethease. Anything that has gotten flagged in studies and is in the major databases promethease uses will show up. So indeed I had 48 genes in ds that popped up when I searched the promethease results for autism. That's not saying all those SNPs indicated autism. It's just saying that that keyword was next to those genes. They were usually flagged neutral because promethease wasn't saying anything conclusive. Some of the SNPs were for prominent genes that I see mentioned in studies when I read about them, so it's not so un-useful in that sense.

 

I think if you suspect a particular rare syndrome, yeah you're looking elsewhere. But for metabolics, for methylation, for stuff you could translate into how you approach supplements, yeah you're getting a ton of info for the $79 sale price of 23andme. For me it was actionable, stuff where I could say this gene indicates that, ok that;s why such and such was happening, let's take this, and boom improvement. Actionable. But yeah, legwork to actually do anything with it. If you don't want to do that, find one of these genomics people or an engine to run it through.

[PeterPan]

Btw, you know this, but you can also find out really sad stuff you don't want to know, stuff that might leave you in a quandry about how to handle it. It's just something to keep in mind. If you're running your own genes, it's one thing. When you're running your kids, you should still do it. I'm just saying I found some things (not cancer, because I think those are iffy anyway) but other stuff, stuff that is actually sad, stuff that I hope that dc doesn't figure out to ask about before it happens. 

 

So it's not like it's all super cheery. If you don't want to know that stuff, stick to methylation, vitamins, etc. and don't snoop too hard.

Edited March 24, 2018 by PeterPan

[PeterPan]

NRI - KnowYourGenetics.com

 

StrateGene: Genetic Report by Dr Ben Lynch

 

PureGenomics®

 

GeneSight: Genetic Testing | Medications for Depression

 

SelfDecode | Genome Analysis  Self-Decode will let you upload your file (I assume for a fee) and kick out interpretive charts. I found their database pretty interesting, but I haven't actually uploaded with them. At some point google sent me to a page that had a search box for Self-Decode, and I just sat there typing in RS numbers. You can do that all you want for free. Somewhere on there I also found a page that finally explained the SNP thing. A SNP is just one letter pair (AA, GT, that kind of thing) on the bigger gene. So to save time/money they're looking at particular SNPs, labeled with RS numbers. So there can be scads of RS numbers to one particular gene. That means if you are researching something and the RS number isn't showing up as having been tested by 23andme or whatever, you just try a different RS # and it might let you come to the same conclusion.

 

So when you click that last link, it lists the gene name (for instance NAT2) and then a bunch of RS #s. If you're not in the mood to pay someone, you can take those lists, often visible in sample reports, go over to your 23andme search page, and find out how you tested, boom done. Takes more time but can be done. So for something like GeneSight, where it's $$$$ to get the engine run, well you already have the RS numbers and you can just work backwards. 

 

 

[popmom]

You may find out that what is labeled "autism" is actually a specific genetic syndrome. There are currently at least 53 different single-gene mutations known to cause autism. This is on top of more common genetic syndromes like Rett Syndrome and Fragile X Syndrome.

 

It took 6.5 years and going from one doctor to the next before we finally got an accurate diagnosis for my DD. Whole Exome Sequencing is enormously expensive however if insurance doesn't pay. To the tune of $17k for the chromosomal DNA + mitochondrial DNA. 23andme wouldn't have identified my child's syndrome because it's far too rare for them to be testing for it.

 

Wow. That blows my mind. I'm so glad you got the info you needed. Fascinating. I love your perseverance in getting the answers you needed.

 

Btw, you know this, but you can also find out really sad stuff you don't want to know, stuff that might leave you in a quandry about how to handle it. It's just something to keep in mind. If you're running your own genes, it's one thing. When you're running your kids, you should still do it. I'm just saying I found some things (not cancer, because I think those are iffy anyway) but other stuff, stuff that is actually sad, stuff that I hope that dc doesn't figure out to ask about before it happens. 

 

So it's not like it's all super cheery. If you don't want to know that stuff, stick to methylation, vitamins, etc. and don't snoop too hard.

 

 

Yes. I have thought of that. I already know there is a possibility of my kids being carriers of Hurler's Syndrome. 

[popmom]

NRI - KnowYourGenetics.com

 

StrateGene: Genetic Report by Dr Ben Lynch

 

PureGenomics®

 

GeneSight: Genetic Testing | Medications for Depression

 

SelfDecode | Genome Analysis  Self-Decode will let you upload your file (I assume for a fee) and kick out interpretive charts. I found their database pretty interesting, but I haven't actually uploaded with them. At some point google sent me to a page that had a search box for Self-Decode, and I just sat there typing in RS numbers. You can do that all you want for free. Somewhere on there I also found a page that finally explained the SNP thing. A SNP is just one letter pair (AA, GT, that kind of thing) on the bigger gene. So to save time/money they're looking at particular SNPs, labeled with RS numbers. So there can be scads of RS numbers to one particular gene. That means if you are researching something and the RS number isn't showing up as having been tested by 23andme or whatever, you just try a different RS # and it might let you come to the same conclusion.

 

So when you click that last link, it lists the gene name (for instance NAT2) and then a bunch of RS #s. If you're not in the mood to pay someone, you can take those lists, often visible in sample reports, go over to your 23andme search page, and find out how you tested, boom done. Takes more time but can be done. So for something like GeneSight, where it's $$$$ to get the engine run, well you already have the RS numbers and you can just work backwards. 

 

Okay. Thanks. and I just want to say...how the heck do you have time for all this research? This is why I asked here. Because I know you all already know the answers! lol  Meanwhile, I haven't had time to clean my toilets. Seriously...thank you. 

Edited March 24, 2018 by stephensgirls

[PeterPan]

Just as a total aside, the ASXL3 gene for BainBridge Roper does have tons and tons of hits with 23andme, over 30 rs numbers checked. Might not be the most useful/pertinent spots, but it's a ton of stuff 23andme runs.

[PeterPan]

I like cleaning toilets, so I do them fast. :D

 

Uh, don't ask. It's called forget to do other things and sit and do this a lot of hours till your eyes bug out and your brain pops. And I was doing it for two kids, so my brain had all these things it was seeing and comparing. That got even more crazy, because I was trying to make lists and differentiate them and see why the outcomes were so different. So then you're kinda needle and haystack, because they're SO so similar as siblings and yet different functionally. So it was trying to figure out why and notice which things.

 

If you are running it on your dc, that might even be something to consider, running the dc who are polar opposites. That might give you enough data that you can infer the genetics for the others.

[PeterPan]

If you run your results through promethease, you can limit the search field various ways and then print the results, making them searchable later.

[popmom]

Love y'all! See you on the other side of the upgrade!

[nature girl]

On 3/23/2018 at 9:46 PM, PeterPan said:

Yes, to me it's pretty logical to spend the $79 and do it if you think you have pesky symptoms you can't explain. If you're living honkey dory lives, there's nothing to solve or explain or figure out or improve, kwim? But if there's a question you want answered or something you wish you could improve, seems pretty reasonable. If I had only found ONE of the things I found, it would have been worth the pitiful $79, and instead I found multiple, multiple things that have allowed us to target and work on issues with precision, boom. 

SaveSave

 

Is that the Ancestry bit that you can get for $79? I've bought the Health and Ancestry for $99 (for myself and my husband) but I'm now thinking of buying it for DD. Do they give you the same sequencing when you buy just the Ancestry piece?

[PeterPan]

With 23andme the chip they use to analyze the sample and create the raw data file is the same whether you choose the ancestry or add in the health reports.

[Lawyer&Mom]

Okay, walk me through this.  Let’s say I wanted to know more about Autism, vitamins, methylation etc.

I already have a completed Ancestry DNA test.  Is that sufficient, or do I need to do a test from 23andMe?

Also, what is this prothemease?  Is that a separate website?  I’m confused.

thanks!!

[PeterPan]

https://promethease.com/

I think you can download your raw data from Ancestry and use it other places, yes. Some of the sites, like Promethease and KnowYourGenetics will even have a direct upload option, where you can log into your ancestry and download the data directly to the other site.

Don't do this now, but if you really want to blow your mind, this site http://www.ggc.org/diagnostic/tests-costs/test-finder/syndromic-autism-panel.html has a list of 83 genes associated with autism to look at, most of which I got SNPs for with 23andme. 

I've found it's sort of a process. Even if you identify things and want to work on them, you'll probably do them one at a time. So you just take the plunge, start learning, do a little more.

If you want to blow your mind, you can go read over at the Epiphany blog. https://epiphanyasd.blogspot.com/ He just had a post about a company Stalicla, which is using genetics to target and repurpose previously approved, readily available meds. Interesting, reasonable concept.

For the vits gig, a lot of sites analyzing the gene lists are trying to sell you stuff. I take their lists and walk away and just THINK, kwim? And some of these things are really custom to balance, not pat answers. Like if you have the gene for being 5HTP deficient (can't convert tryptophan well), then you think ok take this and it fixes stuff, right? Well it DOES, but it does it through the methylation pathway. So then you have to make sure you're looking at those methyl levels, reducing your niacin or whatever if you were too high and bringing up your methyl levels if you're an under-methylator. It's not like some really tidy, pat, isolated, easy answer, kwim? 

We've gotten some seriously profound effects from carefully targeted things we chose directly as a result of seeing the genetics. Mind-boggling. There are, in theory, practitioners trying to get trained in this by other practitioners who claim to have expertise. I think they call it neurogenomics or something. You'll see terms and labels. I think they're all probably under-brain powered and overselling. It's all custom, no matter what you do. So I'm on the very conservative, doubt everybody, end of this, if that makes sense. 

[PeterPan]

8 hours ago, Lawyer&Mom said:

Okay, walk me through this.  Let’s say I wanted to know more about Autism, vitamins, methylation etc.

I already have a completed Ancestry DNA test.  Is that sufficient, or do I need to do a test from 23andMe?

Also, what is this prothemease?  Is that a separate website?  I’m confused.

thanks!!

I just wanted to connect you with this thread. Shows how I've been working backward from other sites.

  

[Janeway]

I used Promethease and liked it.

[PeterPan]

If anyone has been waiting to take the plunge, 23andme has their basic kit (which runs the same chip as the full and gives you all the same health data to export) on sale for $69. Just today.