Which genetic test for health stuff?

[WildflowerMom]

23 and me?     Thanks

 

oh, and then what?   When I get results, does it just say high marks for xyz or do I use another site?   I’ve heard y’all talk about Prometheus or similar.   Is that an extension of a particular genetic test?   

[WildflowerMom]

I'm about to settle on 23 & me.   Someone tell me that's the right way to go.  

[Scarlett]

Of the big ones 23 and me is best for health stuff.  
 

But you can also test with medical sites and they will run all kinds of tests that your insurance won’t pay for and regular labs charge hundreds and hundreds for. 

[KSera]

22 minutes ago, WildflowerMom said:

I'm about to settle on 23 & me.   Someone tell me that's the right way to go.  

I’m a bad person to ask because I wouldn’t use a non HIPPA compliant company like that for so much sensitive health information. Are you looking for something you can ask your doctor to test for? 

[Arcadia]

@PeterPan@busymama7@gardenmom5 Suggestion?

[FreyaO]

Is there a specific rationale behind this? Time frame? Do you have reasons to worry about something? or just curiosity?

Another way is to volunteer for a research study:

https://allofus.nih.gov

No cost to you and you are not dealing with a commercial entity. But it may take some time.

[Scarlett]

41 minutes ago, KSera said:

I’m a bad person to ask because I wouldn’t use a non HIPPA compliant company like that for so much sensitive health information. Are you looking for something you can ask your doctor to test for? 

I think you might be putting too much trust in HIPPA laws.  

[WildflowerMom]

33 minutes ago, FreyaO said:

Is there a specific rationale behind this? Time frame? Do you have reasons to worry about something? or just curiosity?

Another way is to volunteer for a research study:

https://allofus.nih.gov

No cost to you and you are not dealing with a commercial entity. But it may take some time.

This is super interesting.  Are you doing it?   I’m reading through the consent portion now.  

[busymama7]

I did mine through my dr. He's the one who suggested it and it went through another dr who did some analysis and sent a report.  I might have gotten an email I will look. 

Eta: found it.  GXsciences.  I couldn't tell if patient ordered is a possibility or not.  It was worth it to me. I learned a lot.  Like I dont have the gene for gluten intolerance/celiac (I can't remember exactly) so I'm not worried about that.  

Edited March 21, 2023 by busymama7

[PeterPan]

1 hour ago, WildflowerMom said:

23 & me

23andme uses the same chip, hence same raw data, so the cheapest version from them will do. 

I participated in a study that gave me my data, and it's *not* as complete as the 23andme. I have multiple files for my peeps to compare and would not wait around for the studies, which can take many months and not give as much data anyway.

Yes, doctors who are into this can do myriad things. Often they're more targeted, looking for specific genes and issues (seizures, for instance), where you're looking for broad spectrum it sounds like. At $69 it's pretty easy to do 23andme now and do more detailed stuff later if you have a reason that you can convince a doctor about. 23andme testing does not look at more complicated things like deletions, duplications, etc., so it definitely has *limitations*. For the pricepoint it's going to give you some basic useful info and be a start.

Yes, promethease will let you upload your raw data file which they'll then crank out as a savable, searchable pdf. I use this file a LOT, all the time, so it's worth the small price. It has snazzy filter features, etc.

Knowyourgenetics.com will let you upload your raw data file for free and cranks out a file that looks at a few specific genes for some targeted recommendations (methylation cycle, vitamin D, etc.). 

Some of the testing like Genesight overlaps with testing 23andme does. It's not redundant to do the Genesight testing if you doc wants a quick snapshot for medication metabolism questions. However Genesight won't replace the broader testing of 23andme. I can't even imagine how you'd filter through whole exome data, oh my. That could get very overwhelming. I would take it if I had access to it and the money lying around to afford it, sure. It has even gone as low as $350 lately. However that's going to be a LOT of data that is coming with no help for significance, anything. It's very easy to land on something and not know significance or context. It's kinda like, if you could rub a ball and know the future, WOULD you? You might not like to dig in too much, because it's not pretty what you find.

[WildflowerMom]

@PeterPan, can you link the one you’d get from 23?   I want everything, except the last thing you mentioned, the $350 thing.  I don’t need to know all that, lol.  

[WildflowerMom]

1 hour ago, FreyaO said:

Is there a specific rationale behind this? Time frame? Do you have reasons to worry about something? or just curiosity?

Another way is to volunteer for a research study:

https://allofus.nih.gov

No cost to you and you are not dealing with a commercial entity. But it may take some time.

It’s a mix of curiosity and health things going on.  I’m being tested for a couple things now and one is really rare.  I’d like to see what something like 23&me would show.  

[PeterPan]

1 hour ago, busymama7 said:

GXsciences

Interesting. I was looking for sample reports to see what they do. Here's their sample report for acne. https://portal.gxsciences.com/materials/Acne_Male_Rx.pdf  It's a surprisingly medical approach for a site that claims it's goal is nutrigenomics. No testing of zinc transporter gene on the list at all. One of the SNPs they include does not show up in snipedia. RS17030203.

I'll keep looking for other reports. This is the issue with these targeted tests for issues, because you're only looking at what that company thought was important.

 

Edited March 21, 2023 by PeterPan

[PeterPan]

13 minutes ago, WildflowerMom said:

from 23

They chip they use is the same irrespective of which report set you buy from them. The raw data will be the SAME no matter how much you pay. If you want to pay for them to run extra reports on that data, do as you wish. If you want to economize, the cheapest option will have the same raw data as the most expensive. 

[PeterPan]

13 minutes ago, WildflowerMom said:

rare

23andme has limitations and is not necessarily going to show *rare* things. They are not showing microdeletions, duplications, anything *less common* but commonly causing problems we deal with. Those are complex questions that require whole exome or targeted testing, which probably means you need a referral to a geneticist. 

We can be crass here. 23 runs anything that is either interesting or has potential commercial value. Major diseases, anything they can then conglomerate to sell to pharma. It's fine and frankly I don't give a rip what they do with my genetics. Nuts, we've participated in multiple studies now that use genetics. I'm just not that interesting for anyone to care about me personally and connect it to my genetics, lol. Could some entity SOMEDAY do something nefarious with it? Oh probably, but we aren't quite there yet. I'll be dead and gone at that point, lol. 

23andme gives enough data that you'll probably find something interesting, useful, or actionable. Metabolism of meds, major/common things will all be in there. It's how I found the zinc issue in our family and my somewhat less common b6 issue. Super useful at a terrific pricepoint.

[PeterPan]

Remember too you can google site search (gx sciences, whatever) to find their sample report pdfs and then work backward from their list of RS numbers using your 23andme raw data. There's some controversy and pushback with using genetics for nutrigenomics and medications, and I think it's because the doctors are relying on formulated interpretations. It would be terribly complicated and basically out of their fields to sit there looking at every snp and making sure the lab didn't ignore other relevant snp that could have been considered. There's a tendency to want very linear answers instead of having the more complex discussions.

This comes up with mental health a lot because there's this dream of using genetics to drive medication for mental health. It's just not that linear, so the reports end up being mainly about metabolism and completely ignoring the genes that ACTUALLY affect mental health.

So buyer beware sigh. 

Edited March 21, 2023 by PeterPan

[PeterPan]

21 hours ago, WildflowerMom said:

Is that an extension of a particular genetic test?   

Your dna results will come back with a cute basic "report" from 23andme making claims about your neanderthal heritage, your relatives, etc. You can, with a couple hurdles and hassles, *download* the raw data file as a txt file and save this to your computer. That raw data file will have a column with the RS numbers (the SNP bits) and the letters (alleles). Remember these alleles are pairs, so usually, except for sex chromosomes, you're going to have pairs. And those pairs zip up with the opposites on each side. So your results in your raw data might read from one side or the other of the DNA zipper, which means they could be *opposite* whatever Snipedia or google says. 

Once you wrap your head around that, the rest is easy. Sometimes in the list there will be SNPs without RS, almost like it was trying to hide them. You upload your raw data into search engines to help interpret it. Promethease can filter by red/green, etc. for significance, which gives you a way to focus your study. 

Have  fun waiting. Tick tock. 😄 

Edited March 21, 2023 by PeterPan

[kbutton]

5 hours ago, PeterPan said:

23andme has limitations and is not necessarily going to show *rare* things. They are not showing microdeletions, duplications, anything *less common* but commonly causing problems we deal with. Those are complex questions that require whole exome or targeted testing, which probably means you need a referral to a geneticist. 

This.

Also, not everything that is genetic has identified genes yet, and sometimes more than one gene interacts with it all. Nuts, I just watched a webinar by a leading researcher, and there is a gene that makes one set of genetic issues worse and one set of genetic issues better!

I would make sure your rare thing actually has identified genes before bothering with a genetic test, and then I would be asking a geneticist how to go about it.

 

 

[SeaConquest]

PeterPan,

If it was in the budget, which whole genome company would you use? There are a number of direct-to-consumer sites, many with subscription plans, etc. and I've been curious about getting it done.

[PeterPan]

1 hour ago, SeaConquest said:

whole genome

I haven't done it but would be cautious. You could end up with so much data you don't know how to go through it, lol. Have you already done the basics? 

I frequently look up RS numbers from studies I read for topics that interest me and I *seldom* am not able to get either a match or pretty close with my 23andme data. Going whole exome would just result in a massive amount of data. Things like deletions and microdeletions I'm not sure you'd even know how to look for on your own. If you have those serious issues, seems like you'd be working with a geneticist who could run it. 

But hey, if you're game and want to, knock yourself out. I think someone posted a link some time ago with whole exome for maybe $350. 

[SeaConquest]

13 hours ago, PeterPan said:

I haven't done it but would be cautious. You could end up with so much data you don't know how to go through it, lol. Have you already done the basics? 

I frequently look up RS numbers from studies I read for topics that interest me and I *seldom* am not able to get either a match or pretty close with my 23andme data. Going whole exome would just result in a massive amount of data. Things like deletions and microdeletions I'm not sure you'd even know how to look for on your own. If you have those serious issues, seems like you'd be working with a geneticist who could run it. 

But hey, if you're game and want to, knock yourself out. I think someone posted a link some time ago with whole exome for maybe $350. 

I have looked into Nebula Genomics and Dante Labs, and have been reading some genetics-related subreddits, but I have concerns about interpretation (as you mentioned) and privacy of the data. I am still not sold, so thought I would ask you your thoughts. I haven't done any DNA testing, to date. Since the price of whole genome sequencing has come down so much, I have been considering it again. Thanks for your thoughts. 🙂 

[Splash1]

Invitae

[SHP]

On 3/21/2023 at 9:22 AM, KSera said:

I’m a bad person to ask because I wouldn’t use a non HIPPA compliant company like that for so much sensitive health information. Are you looking for something you can ask your doctor to test for? 

This. 

Plus sometimes insurance companies will cover the costs. The insurance covered genetic testing twice for one of our kiddos but denied mine recently. The kiddo was done through a genetic clinic, mine was through my regular doctor. Each time the doctor's office did the tests. The results are protected health information. 

[TechWife]

On 3/21/2023 at 11:04 AM, Scarlett said:

I think you might be putting too much trust in HIPPA laws.  

It’s a matter of not trusting a company that has NO ethical or legal obligation to keep personal info private. I remember the health info employers could gather prior to HIPPA - pre employment physicals & hiring discrimination based on health was normal.