3 ms·

I don't see why you're drawing that conclusion. As a customer, I'm happy with what I got: (1) Fairly high-confidence data about known "big" inherited conditio

by dgacmu 10y ago

I don't see why you're drawing that conclusion. As a customer, I'm happy with what I got: (1) Fairly high-confidence data about known "big" inherited conditions. This was useful when my wife and I decided to have a child - there were several things we could safely rule out screening for. No surprises, but "no surprises" was what we were looking for. :) (2) lower-confidence data for less-substantiated issues (who knew? I'm a fair bit more likely to get venous thromboembolism than average. So now I take more walks up & down the aisle when I'm on an airplane.). Is this life-changing or even particularly important? Nah. But on the other hand, it costs me nothing - and probably makes me happier - to change my behavior to wiggle around more. :) (3) Some infotainment, primarily in the ancestry information. It was interesting. <shrugs> (4)a copy of my SNPs that I store locally and may someday upload to another analysis service.

jacquesm 10y ago
> Fairly high-confidence data about known "big" inherited conditions. This was useful when my wife and I decided to have a child - there were several things we could safely rule out screening for. No surprises, but "no surprises" was what we were looking for. :) I'm sure you felt the need to get a second scan from a different company to confirm the negative results because this was so incredibly important to you.
- dgacmu 10y ago
  The sarcastic tone of your response suggests that you're expecting me to be an idiot and/or a hypochondriac. I may or may not be a typical 23andme customer (and wasn't suggesting I was), but we had very specific, actionable reasons for using their services: Of course we didn't do a second scan, that would be silly. My wife carries some recessive genes for inherited conditions common among Ashkenazi jews, and because I don't know half of my ancestry, we simply wanted to confirm that I was negative for them. They're not particularly common, hence "no surprises." Checking the embryo for diseases such as Tay-Sachs typically require chorionic villus sampling, which comes with a 1-2% risk of causing a miscarriage. Spitting into a tube and sending it for SNP testing is cheap, easy, and low-risk. Had I been a carrier, we would have had CVS performed. The 23andme results let us safely skip having an extra procedure performed. Net win. (Note that this is not going out on a limb: screening for Tay-Sachs is strongly recommended by ACOG when both parents are known to be carriers.) There are screening panels designed to specifically hit only the carrier status markers we were interested in, but for me, the extra ancestral information tipped the scale in favor of the more general information.
  - jacquesm 10y ago
    23andme does not sell clinical diagnostic services, period. If you are going to make really important decisions regarding your health or that of your descendants then you should really look elsewhere. You're not capable of interpreting the results and without a second scan you don't even know if the results are yours. This is really not an area where - unless you are qualified in the field - you should 'self medicate', the risks are way too large. > The 23andme results let us safely skip having an extra procedure performed. I think you're putting much more faith in them than is warranted, and that's where for me the risk lies of services like these (besides the very obvious privacy issues). > (Note that this is not going out on a limb: screening for Tay-Sachs is strongly recommended by ACOG when both parents are known to be carriers.) Yes, it is.
    - dgacmu 10y ago
      You keep making statements referring to _me_ that are inaccurate, but would be correct if you scoped them to "the average consumer" or "an untrained individual." First, I've got more than enough biology training to interpret it - a bachelors + a small amount of graduate study looking at analysis of chip-based genetic and protein assays. (Not my day job. I certainly wouldn't claim to be qualified to do this for anyone else.) Second, I certainly do have high confidence that the results are mine. That's actually one of the cool things about a larger assay: I spotted a second cousin in the ancestry components of the list, and the maternal components match exactly with what I know. The remaining issue is simply knowing what their false positive & negative rate is on the carrier status reports. I don't know, but given that we have a pretty good prior that I wasn't likely to be a carrier, it was sufficient for our purposes. (And, in fairness to 23andme, that's one part the FDA is letting them continue to provide.) All of the concerns you've expressed make sense in general. I absolutely wouldn't encourage anyone to do this without talking to their doctor.
      - jacquesm 10y ago
        So, then maybe if you're so exceptional you should state these things up front rather than to add them afterwards to bolster your position. 23andme is there for the general consumer, not for you specifically. Of course there are exceptions to every rule, I'm well aware of that and accept that there may be some extreme edge cases for which 23andme makes sense. But you make it seem like your situation is 'normal satisfied consumer' at first and then add more and more information to move it into 'extremely exceptional satisfied consumer' territory. > I spotted a second cousin in the ancestry components of the list, and the maternal components match exactly with what I know. http://jacquesmattheij.com/if-you-have-nothing-to-hide http://jacquesmattheij.com/if-you-have-nothing-to-hide

by dgacmu 10y ago

jacquesm 10y ago

> Fairly high-confidence data about known "big" inherited conditions. This was useful when my wife and I decided to have a child - there were several things we could safely rule out screening for. No surprises, but "no surprises" was what we were looking for. :) I'm sure you felt the need to get a second scan from a different company to confirm the negative results because this was so incredibly important to you.

dgacmu 10y ago
The sarcastic tone of your response suggests that you're expecting me to be an idiot and/or a hypochondriac. I may or may not be a typical 23andme customer (and wasn't suggesting I was), but we had very specific, actionable reasons for using their services: Of course we didn't do a second scan, that would be silly. My wife carries some recessive genes for inherited conditions common among Ashkenazi jews, and because I don't know half of my ancestry, we simply wanted to confirm that I was negative for them. They're not particularly common, hence "no surprises." Checking the embryo for diseases such as Tay-Sachs typically require chorionic villus sampling, which comes with a 1-2% risk of causing a miscarriage. Spitting into a tube and sending it for SNP testing is cheap, easy, and low-risk. Had I been a carrier, we would have had CVS performed. The 23andme results let us safely skip having an extra procedure performed. Net win. (Note that this is not going out on a limb: screening for Tay-Sachs is strongly recommended by ACOG when both parents are known to be carriers.) There are screening panels designed to specifically hit only the carrier status markers we were interested in, but for me, the extra ancestral information tipped the scale in favor of the more general information.
- jacquesm 10y ago
  23andme does not sell clinical diagnostic services, period. If you are going to make really important decisions regarding your health or that of your descendants then you should really look elsewhere. You're not capable of interpreting the results and without a second scan you don't even know if the results are yours. This is really not an area where - unless you are qualified in the field - you should 'self medicate', the risks are way too large. > The 23andme results let us safely skip having an extra procedure performed. I think you're putting much more faith in them than is warranted, and that's where for me the risk lies of services like these (besides the very obvious privacy issues). > (Note that this is not going out on a limb: screening for Tay-Sachs is strongly recommended by ACOG when both parents are known to be carriers.) Yes, it is.
  - dgacmu 10y ago
    You keep making statements referring to _me_ that are inaccurate, but would be correct if you scoped them to "the average consumer" or "an untrained individual." First, I've got more than enough biology training to interpret it - a bachelors + a small amount of graduate study looking at analysis of chip-based genetic and protein assays. (Not my day job. I certainly wouldn't claim to be qualified to do this for anyone else.) Second, I certainly do have high confidence that the results are mine. That's actually one of the cool things about a larger assay: I spotted a second cousin in the ancestry components of the list, and the maternal components match exactly with what I know. The remaining issue is simply knowing what their false positive & negative rate is on the carrier status reports. I don't know, but given that we have a pretty good prior that I wasn't likely to be a carrier, it was sufficient for our purposes. (And, in fairness to 23andme, that's one part the FDA is letting them continue to provide.) All of the concerns you've expressed make sense in general. I absolutely wouldn't encourage anyone to do this without talking to their doctor.
    - jacquesm 10y ago
      So, then maybe if you're so exceptional you should state these things up front rather than to add them afterwards to bolster your position. 23andme is there for the general consumer, not for you specifically. Of course there are exceptions to every rule, I'm well aware of that and accept that there may be some extreme edge cases for which 23andme makes sense. But you make it seem like your situation is 'normal satisfied consumer' at first and then add more and more information to move it into 'extremely exceptional satisfied consumer' territory. > I spotted a second cousin in the ancestry components of the list, and the maternal components match exactly with what I know. http://jacquesmattheij.com/if-you-have-nothing-to-hide http://jacquesmattheij.com/if-you-have-nothing-to-hide