This is so interesting to me. My paternal grandfather was also an Orphan Train child. He was Catholic and supposedly 100% Irish, but all seven of his kids and many of the grand kids could pass for ethnically Jewish. In the family we talk about the “black Irish,” I used to attribute it to the Spanish Armada wrecking on the shores of Ireland, but maybe my darker hair and skin come from a more recent point in history. I wonder if any of my cousins have been tested . I have tons of them; Catholics you know! 
“Well then… (I was diagnosed with RA in February)”
Wow, you have both lupus and RA? You are a rheumatologist’s nightmare, or maybe a rheumatologists’ day dream if he/she is trying to afford to put kids through college. You have my sympathies.
LOL Scipio. My Rheumatologist is the head of the Lupus clinic here at the Univ of Michigan. I think he is enjoying the challenge since I have symptoms in addition to the RA and Lupus that don’t quite fit with either of them. (And his children are well past college age… but maybe his grandkids 
)
My mom told me I wasn’t allowed to tell her her health results. She already has an autoimmune disease and is starting to show signs of RA. Her result is the same as mine. I hope for her sake that it is wrong 
I went back on 23andMe after a few months off of it. I apparently have the new layout and I don’t like it. I can’t find things that used to be easy to find.
I just did the Promethease thing to get a look at my many risks. The 3 or 4 it said I am at highest risk for the most part I already have - 7 fold increased risk of hypertension for example. I’ve had to take beta blockers to control my high blood pressure for decades.
I don’t know quite what to make of the contradictory ones - several alleles or SNPs that put me at significantly lower risk of heart attack or stroke and several others than put me at increased risk. I guess in those instances it more or less balances out to a normal risk. But I haven’t had a heart attack or stroke yet, so maybe the good genes are winning.
Overall, looking at this kind of information is not a good thing for hypochondriacs. Everyone carries dozens of genes that put them at increased risk of various diseases. But the thing to remember is that in nearly all cases the vast majority of people carrying those genes do not get the disease in question. There are very few diseases that are directly genetic, that coming down with the condition is certain. And we know most of those: color-blindness, hemophilia, Huntington’s disease, cystic fibrosis, etc. For all the rest we are just talking about propensities - slightly increased or decreased risks of disease.
23andMe was in the news today about a research study about depression:
https://www.washingtonpost.com/news/to-your-health/wp/2016/08/01/large-dna-study-using-23andme-data-finds-15-sites-linked-to-depression/
The work was done in collaboration with scientists from Mass General Hospital and UPenn
@scipio thanks for the info for IBD patients. I just forwarded that information on to a few friends!
Dh gave me the 23andme kit for the holidays last year and I received my results in February. As mentioned, I found them skimpy and, honestly, rather unsatisfying. About a month ago, I learned about promethease and paid the $5 and, again, as mentioned above, received mounds of data. I really didn’t have the bandwidth to comb through it all and make sense of it so I engaged a genetic counselor and will be receiving my report tomorrow or the day after and have a call scheduled with her to go over it.
What’s weird is that I was only mildly curious about all of this initially but, somehow, once I started, I wanted to fully understand what was available to me. Looking forward to my conference call.
I really don’t get why 23andme isn’t able to give information that promethease is. And, while promethease is somewhat user friendly (highlighting things in red and green where you have a genetically higher likelihood for something vs a lower), it really could be a lot more user friendly and better organized, imho.
If you don’t mind my asking, how much are you paying the genetic counselor combing through your Promethease data? I agree completely it could be better organized. It feels like computer geeks with no sense of a lay end user developed it. So jargon-filled.
“I really don’t get why 23andme isn’t able to give information that promethease is. And, while promethease is somewhat user friendly (highlighting things in red and green where you have a genetically higher likelihood for something vs a lower), it really could be a lot more user friendly and better organized, imho.”
23andme was busted for peddling unapproved medical diagnostics and is now trying hard to become a legitimate diagnostic company. There is only so much you can earn by selling $99 kits to a curious slice of the population. There are major $$$$$ to be made in medical diagnostics, like billions. The FDA has very specific rules for a diagnostic test that need to be met before the test can be marketed and sold. If anyone has a beef with the FDA, please talk to my kid who is now working in a foreign country where snake oil peddlers rule and where people in remote villages die of food poisoning because of zero governmental oversight. 'nuff said.
Promethease, as I understand it, is a simplified BLAST-like tool (I have not used it, so please feel free to correct me). It does not “interpret” the results for you; you do your own interpretation, take it or leave it. I occasionally search DNA sequences for homology… so what.
I didn’t think anyone was having a beef with the FDA, just asking why Promethease could release reports 23andme couldn’t. Anyway, saying that it’s a “BLAST-like.tool” and that you “search for homology” adds exactly zero to my understanding of anything! We are not all biologists or chemists!
This article tells about the origins of Promethease:
https://www.technologyreview.com/s/531461/how-a-wiki-is-keeping-direct-to-consumer-genetics-alive/
I am of the mind that my 23andMe test results should be available to me, and any failing of interpretation falls on my shoulders. I am annoyed that the FDA thinks I can handle this information about ME and is trying to protect me from it. I love that it is inexpensive relative to MD ordered tests, and from what I have seen for myself and family, it is accurate.
(Nit picker here but BLAST requires sequences of DNA or protein, and 23andMe does not provide that. It deals in SNPs, which are variations at single locations. The technology does not yield full sequence information. If it did, it would cost more than $99.)
It costs $199, not $99. The price went there when they relaunched after the ban was lifted.
Has anyone who has done both tests recommend one over the other? It sounds like 23andme offers potential health info and costs twice as much? Initially, I was interested in just getting an ethnicity breakdown, but health info could be useful.
I think the point we are all making is that the 23 used to offer really good health reports, but no longer does, which is why some of us are patching it together with Promethease and wishing we had done 23 earlier before the ban.
After I posted earlier, I remembered why Promethease is able to provide the info and 23andme is not. 23andme is marketing and conducting a physical test, which can be regulated by the FDA. I believe the FDA ruled that 23andme can’t offer that test directly to the consumer as a quasi-diagnostic tool.
Promethease is basically just providing a literature search and retrieval service. The FDA likely doesn’t have jurisdiction over them and trying to regulate that service would likely run afoul of the first amendment in any event.
I think another issue was that 23andme was synthesizing and consolidating the genetic info, and presenting conclusions to the consumer. This would obviously be more user friendly, and would appear to make the info more useful than the pure data dump offered by Promethease. But I think the FDA concluded that the conclusions that 23andme was offering were too close to medical opinions and misleadingly suggested a degree of certainty that is just not supported by the literature. Promethease just offers a data dump without any attempt to synthesize or harmonize the info.
PS I agree it is annoying that 23andme can’t offer the info with appropriate caveats. They should at least be able to provide the literature search and retrieval service.
How did you learn about Promethease, nottelling? I guess I just thought that 23andme had returned to what it used to offer before the ban; I didn’t realize that they really hadn’t, which is why I was kind of underwhelmed to find out about only these relatively obscure conditions. Promethease is giving me more on “big” diseases (Alz, heart disease, etc) but it’s just “you have 10 locations that are higher risk for Alz and 5 that are lower risk” without any attempt to synthesize or prioritize.
I just read about it somewhere. I don’t remember how I first came across it. I haven’t done the 23andme thing, or Promethease, but I was thinking of doing it before the ban went into place a couple of years ago and then started looking into alternatives. I have no personal or professional, scientific knowledge about any of this stuff.
Promethease just filters your 23&me data through the open database Snpedia. The wiki entry for Snpedia explains the history. Promethease is the result of a contest sponsored by 23&me to develop software to mine the free database. Snpedia is like Wikipedia for genes. It collates the thousands of research studies on how gene variations correlate to disease or other traits. The information provided is free and publicly available, so 23&me can’t be accused of offering any interpretation of data, it simply facilitates your access to publicly available information.
It’s important to interpret the results in the context of the frequency of the gene variant in a given population. For example if you have a ‘bad’ gene but the frequency of the variant is 60% of the given population (I.e. Caucasian) it just means that Caucasians are at higher risk for that problem.
I adjusted the frequency toolbar to 20%, meaning about 1 in 5 people have that version of the gene. It yielded some interesting results, some of which I may discuss with my doctor on the next visit. For example I learned that I am unlikely to respond to certain anti-depressants. I hope I never need them, but if I do it will be helpful to know which ones are likely to be ineffective. I’m surprised this information has not been more widely adopted for patient care.
@BunsenBurner, I most definitely was not dissing the FDA in my post above. As @nottelling said, I was just confused as to why one company was prohibited from doing something while another could although her explanation made sense to me (one overseen by the the FDA and another not).
@Pizzagirl, I am paying the genetic counselor about $500 for the analysis. I actually surprised myself as I wouldn’t normally spend that amount of money on something that isn’t actually all that important to me. I kind of got carried away. FYI, the GC said she would be spending about 3h on my analysis.
nottelling, you are correct. I posted in a hurry without fully explaining the difference. A company cannot sell a diagnostic test and present to the consumer any explanation of the test data unless it has the FDA clearance for the test. 23andme is complying with the FDA, apparently in its attempt to become a real diagnostic company. A consumer can always buy a RUO (research use only) test and interpret the data as the consumer wishes, and this is what folks are doing with Promethease apparently, which only provides a database and a search tool.
There was a lot of the FDA “dissing” in a previous thread on the same subject, so I (incorrectly) assumed that this thread was going down the same sinkhole. Apologies for that.
Of course it would cost more than $99 to get the whole genome data - as it stands now, about $1,000 plus markup.