3 ms·

>Of course we didn't do a second scan, that would be silly... I don't know half of my ancestry, we simply wanted to confirm that I was negative for them Oh go

>Of course we didn't do a second scan, that would be silly... I don't know half of my ancestry, we simply wanted to confirm that I was negative for them Oh god I hope you are not serious. These services are not clinical diagnostic tests and shouldn't be used as such for a thousand different reasons. Genetic counseling is serious business. It should be administered by a trained professional in a medical setting. The results of any genetic tests should be interpreted by a trained professional.

dgacmu 10y ago
See below. I'm completely serious. The population prevalence of Tay-Sachs is about 0.4%. (I don't look obviously Ashkenazi - quite the opposite - so there's little reason to assume I'm in a high-risk population). Therefore, there's a pretty strong prior that we didn't need to worry about it in the first case. Even assuming that the 23andme results have a horrible false negative rate -- let's say they miss 25% of carriers -- a negative result on a single screen (where we know it was actually my data, as Jacques noted) is enough to drive our per-child risk down to about 1 in 4000. The false positive risks are small - follow-up genetic testing using a certified lab is easy. Note that I was creating a deliberately absurdly high number for that false negative rate. The FN rate found, for example, for 23andme's Bloom Syndrome carrier status test is much lower than what I used above. The actual post-test carrier risk when I calculated it was under 1 in 10,000. Perfectly fine for a low-risk situation like ours.
burfog 10y ago
"trained professional in a medical setting [...] trained professional." This implies that you oppose testing, because with those expenses it's just not happening. Nobody likes to pay a 4-digit sum to look at a dozen spots on the genome, and then another test and another 4-digit sum to look at a few more (separate office visit of course), and then again...
- nommm-nommm 10y ago
  I don't opposite genetic testing, I am in full support, especially as someone who is a carrier of a very rare genetic disorder. It is serious though it shouldn't be a DIY thing just like MRIs or any other medical tests.
  - burfog 10y ago
    I don't think you meant to imply that MRIs are a DIY thing, but that sounds lovely. Do you happen to know if it would be available/affordable anywhere? It's my body. I've done lots of things already that are theoretically supposed to involve doctors or never be done: I've done minor surgery with a Leatherman multi-tool knife. I don't pay a dermatologist to pop my pimples. Really, who does that??? I clean my ears. When Q-tips are unavailable or too weak, I use other tools: paperclip, screw, scissors, screwdriver, pen, pen cap... Being "serious" does not matter. If it did, we'd have condoms installed by doctors.

dgacmu 10y ago

See below. I'm completely serious. The population prevalence of Tay-Sachs is about 0.4%. (I don't look obviously Ashkenazi - quite the opposite - so there's little reason to assume I'm in a high-risk population). Therefore, there's a pretty strong prior that we didn't need to worry about it in the first case. Even assuming that the 23andme results have a horrible false negative rate -- let's say they miss 25% of carriers -- a negative result on a single screen (where we know it was actually my data, as Jacques noted) is enough to drive our per-child risk down to about 1 in 4000. The false positive risks are small - follow-up genetic testing using a certified lab is easy. Note that I was creating a deliberately absurdly high number for that false negative rate. The FN rate found, for example, for 23andme's Bloom Syndrome carrier status test is much lower than what I used above. The actual post-test carrier risk when I calculated it was under 1 in 10,000. Perfectly fine for a low-risk situation like ours.

burfog 10y ago

"trained professional in a medical setting [...] trained professional." This implies that you oppose testing, because with those expenses it's just not happening. Nobody likes to pay a 4-digit sum to look at a dozen spots on the genome, and then another test and another 4-digit sum to look at a few more (separate office visit of course), and then again...

nommm-nommm 10y ago
I don't opposite genetic testing, I am in full support, especially as someone who is a carrier of a very rare genetic disorder. It is serious though it shouldn't be a DIY thing just like MRIs or any other medical tests.
- burfog 10y ago
  I don't think you meant to imply that MRIs are a DIY thing, but that sounds lovely. Do you happen to know if it would be available/affordable anywhere? It's my body. I've done lots of things already that are theoretically supposed to involve doctors or never be done: I've done minor surgery with a Leatherman multi-tool knife. I don't pay a dermatologist to pop my pimples. Really, who does that??? I clean my ears. When Q-tips are unavailable or too weak, I use other tools: paperclip, screw, scissors, screwdriver, pen, pen cap... Being "serious" does not matter. If it did, we'd have condoms installed by doctors.