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I am sorry for your horrible situation. I don’t really understand what your implication is. Are you wishing you had not done the genetic tests? Suggesting you

I am sorry for your horrible situation. I don’t really understand what your implication is. Are you wishing you had not done the genetic tests? Suggesting you should have aborted the 20-week fetus based on unusual skull appearance? Suggesting that the meningitis was a result of some malpractice? Mad at medical professionals who are now “dropping hints” without saying something more substantive? The problem with these tests highlighted (confusingly) by the NY Times article is that they test for extremely rare conditions but have a high enough false positive rate (by my napkin math, on order 0.05% = 1/2000 false positive rate) that they end up dramatically over-diagnosing these conditions. That doesn’t necessarily mean the people designing the tests were lacking in “sound science” or were behaving maliciously. Their tests just need to be almost perfect to not overdiagnose rare abnormalities, and perfection in medical tests is a very high bar. Arguably we shouldn’t do tests for such rare conditions unless the false positive rate can be dropped by another order of magnitude or more, and if we do such tests communication to those who test positive should be much clearer. On the other hand, since genetic abnormalities are so life altering, even a 10% or 20% chance of an accurate positive might be grounds to abort a very early fetus. It sounds like your specific problem was that the genetic tests did not return a positive result, even though it seems plausible that your child had some genetic abnormality. Not picking up every possible genetic condition is a different problem from the false-positive problem highlighted by the article.

savanaly 5y ago
I've always wondered-- is the error between tests correlated? Why does it not suffice to gather all the positive outcomes and test them again, then again and again until you have sufficient power depending on the rarity of the disease in the population? I know that for covid tests for example the test outcome errors aren't independent, which is why even taking several tests you can't be confident you're negative even if you tested negative. But I figured that was a special case and it was because their error comes from variance in viral load or something. But would that apply to these genetic marker tests?
- tagoregrtst 5y ago
  I think of it like this: Unlike a false negative where there isnt enough to trigger the test, false positive implies that something triggered a positive. You have something, just not what the test thinks you have. For example, men with testicular cancer, apparently, show up as pregnant in pregnancy tests. Clearly thats a false positive for pregnancy.
deleted 5y ago
[deleted]
tmnstr85 5y ago
- kryogen1c 5y ago
  you should probably step back and take a breather. youre emotionally involved in a matter with your kid(s) - as one should be - but thats not the way to have a public discourse.
  - BoorishBears 5y ago
    The reply is pretty tasteless. Especially: > Suggesting you should have aborted the 20-week fetus based on unusual skull appearance? Suggesting that the meningitis was a result of some malpractice? Don't ask people sarcastic questions on a subject like this. You wouldn't do it in real life would you? It's a real person who just shared a harrowing experience with a child, not talking about the latest "Rust framework for DeFi Widget Spinning". Common sense and basic social skills would tell anyone this was someone talking about a related experience with thier child, not a calculated rebuttal meant to talk to some exactly overlapping point presented in the article. Honestly the exchange captures the core of HN: You can be as nasty as you want as long as you're not direct about it.
    - jacobolus 5y ago
      I am not asking sarcastic questions, and my comment is not intended as any kind of attack. Please read my tone as 100% earnest, just confused. And I hope the top poster will accept my apology that I didn’t phrase my comment to make that clear enough. The tone of voice in the top-level comment reads to me as extremely aggressive/aggrieved, like they had been personally wronged by someone (not just a victim of a tragic accident). But I don’t understand where that anger is being directed toward, or what precisely they are trying to say, so I am asking for clarification. Are they upset at doctors? the hospital? genetic test providers? themselves? Or perhaps I was grossly misreading the intended tone. I am not judging or criticizing them: having a chronically sick kid must be a horrible traumatic experience, with no easy answers. I am sure I would be incredibly upset too, under the circumstances. I am just trying to figure out what they are trying to say. * * * Separately, I’m sorry for the “It sounds like your specific problem” part, which is phrased insensitively; clearly they have much bigger problems than this one. I didn’t mean it that way. I’m just trying to point out that taking a genetic test with zero false positives wouldn’t have made any difference to the top-level poster.

savanaly 5y ago

I've always wondered-- is the error between tests correlated? Why does it not suffice to gather all the positive outcomes and test them again, then again and again until you have sufficient power depending on the rarity of the disease in the population? I know that for covid tests for example the test outcome errors aren't independent, which is why even taking several tests you can't be confident you're negative even if you tested negative. But I figured that was a special case and it was because their error comes from variance in viral load or something. But would that apply to these genetic marker tests?

tagoregrtst 5y ago
I think of it like this: Unlike a false negative where there isnt enough to trigger the test, false positive implies that something triggered a positive. You have something, just not what the test thinks you have. For example, men with testicular cancer, apparently, show up as pregnant in pregnancy tests. Clearly thats a false positive for pregnancy.

deleted 5y ago

[deleted]

tmnstr85 5y ago

kryogen1c 5y ago
you should probably step back and take a breather. youre emotionally involved in a matter with your kid(s) - as one should be - but thats not the way to have a public discourse.
- BoorishBears 5y ago
  The reply is pretty tasteless. Especially: > Suggesting you should have aborted the 20-week fetus based on unusual skull appearance? Suggesting that the meningitis was a result of some malpractice? Don't ask people sarcastic questions on a subject like this. You wouldn't do it in real life would you? It's a real person who just shared a harrowing experience with a child, not talking about the latest "Rust framework for DeFi Widget Spinning". Common sense and basic social skills would tell anyone this was someone talking about a related experience with thier child, not a calculated rebuttal meant to talk to some exactly overlapping point presented in the article. Honestly the exchange captures the core of HN: You can be as nasty as you want as long as you're not direct about it.
  - jacobolus 5y ago
    I am not asking sarcastic questions, and my comment is not intended as any kind of attack. Please read my tone as 100% earnest, just confused. And I hope the top poster will accept my apology that I didn’t phrase my comment to make that clear enough. The tone of voice in the top-level comment reads to me as extremely aggressive/aggrieved, like they had been personally wronged by someone (not just a victim of a tragic accident). But I don’t understand where that anger is being directed toward, or what precisely they are trying to say, so I am asking for clarification. Are they upset at doctors? the hospital? genetic test providers? themselves? Or perhaps I was grossly misreading the intended tone. I am not judging or criticizing them: having a chronically sick kid must be a horrible traumatic experience, with no easy answers. I am sure I would be incredibly upset too, under the circumstances. I am just trying to figure out what they are trying to say. * * * Separately, I’m sorry for the “It sounds like your specific problem” part, which is phrased insensitively; clearly they have much bigger problems than this one. I didn’t mean it that way. I’m just trying to point out that taking a genetic test with zero false positives wouldn’t have made any difference to the top-level poster.