When they warn of rare disorders, these prenatal tests are usually wrong • Hacker News Board

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#121

Post by in_cahoots » Mon, Jan 03, 2022, 6:28 AM UTC

mcguire wrote: post #86

jrockway wrote: post #74

Earlier quoted context omitted.

Specificity and sensitivity are two dimensions that you can measure tests in. You can claim your test is 99% accurate if you mean that "if the test says you don't have the disease, there is a 99% chance that you don't have the disease". That same test can still be 85% wrong if it says you DO have the disease, though. I doubt that hyping one side of this equation is fraud. Pushing the error in this direction seems lik…

Here's the fliers mentioned in the article: https://www.harmonytest.com/content/dam/RMS/harmonytest/glob... https://web.archive.org/web/20211116203541/https://myriadwom... https://images.health.questdiagnostics.com/Web/QuestDiagnost... I'd appreciate it if you could point out where any of them walk the potential customer through sensitivity, specificity, and the fact that if they test positive, there is an 80-90% cha…

When I got my test results, they were clear that the odds of having a disorder were (for example) 1/144, even with a ‘positive’ result. This was through Natera. The problem is that this information is sent directly to the provider in most cases, so parents are left interpreting someone else’s interpretation of statistics. My midwife specifically told me that the test isn’t often wrong, even though the actual odds were there in the fine print.

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#122

Post by in_cahoots » Mon, Jan 03, 2022, 6:30 AM UTC

I was in this exact situation. I received a phone call from my midwives, saying that my son had tested positive for one of these disorders, and that these tests aren’t usually wrong. Fortunately I had done my research and knew that the false positive rate is high. But the entire system is set up to provide a terrible experience.

Your results are sent directly to your provider, so you can’t read the fine print yourself. And if you do get access to the results, the wording implies that a null result (not enough DNA collected) actually means you’re likely to have some disorder. In fact the wording here actually got worse in the three years between my two (healthy) births.

Ideally these companies should require genetic counseling before you take the test. Parents should understand that these tests are for screening purposes only, and that a definitive diagnosis can’t be gotten until 16-20 weeks. Unfortunately these companies have found a niche- parents wanting to know the sex and health of their children as soon as possible- and have no real reason to improve their practices.

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#123

Post by lelanthran » Mon, Jan 03, 2022, 6:42 AM UTC

rayiner wrote: post #112

honkycat wrote: post #106

Earlier quoted context omitted.

No. I think this is a cruel and ignorant thing to say. Wanting to have a child who is not special needs is not an evil thing. Choosing to not bring a a child with special needs to term is not evil. Having a special needs child can dominate your finances, your life, and the lives of your family members and already existing children. People have a right to choose what what they want out of life, especially in the conte…

Why stop there? It can be a challenge to have a kid who is ADHD, or is susceptible to depression or mental illness, or a different sexual orientation, etc. It’s not wrong to abort those children either, right?

> Why stop there? It can be a challenge to have a kid who is ADHD, or is susceptible to depression or mental illness, or a different sexual orientation, etc. It’s not wrong to abort those children either, right?

But we don't stop there. The bar is considerably lower than "the kid might have problems".

The mother, exclusively, can decide whether or not she wants to proceed with the pregnancy through to birth, and she doesn't need a reason other than "I don't feel like it". All those reasons you gave are still better than "I don't fell like it", and you somehow think that those are the wrong reasons?

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#124

Post by jacobolus » Mon, Jan 03, 2022, 6:55 AM UTC

BoorishBears wrote: post #111

kryogen1c wrote: post #90

Earlier quoted context omitted.

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.

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 f…

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.

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#125

Post by Auracle » Mon, Jan 03, 2022, 7:00 AM UTC

lostlogin wrote: post #18

Neil44 wrote: post #6

Before my daughter was born I sometimes felt like it was the doctors job to scare us with every worse case scenario possible. It was quite stressful and upsetting.

I'm not certain that perk of parenthood ends at birth.

When my then-pregnant wife called our fertility clinic with a worry the nurse calmed her down but also basically told her “welcome to the rest of your life.”

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#126

Post by Auracle » Mon, Jan 03, 2022, 7:04 AM UTC

sterlind wrote: post #46

I've heard that in the early days of HIV, the tests were (e.g.) 95% accurate, and when patients saw their positive results and the supposed 5% chance it's wrong they'd sometimes kill themselves. They revised the tests so the first test would say Inconclusive rather than Positive, and ask them to repeat it. This saved some lives. Maybe this a UX failure? Shouldn't the test designers present the results like this, even…

I had a friend tell me their daughter tested positive for something and they didn’t do any follow-up testing because someone else they knew also had a positive result and their baby was fine, so “the test is worthless.” Luckily their daughter seems to be healthy herself, but it clearly wasn’t explained well to them by their doctor.

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#127

Post by burnished » Mon, Jan 03, 2022, 7:09 AM UTC

BoorishBears wrote: post #111

kryogen1c wrote: post #90

Earlier quoted context omitted.

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.

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 f…

Disagree. I don't get your reading from it and frankly I read the above comment and also did not understand what they had intended to communicate due to seeming contradictions. I had the same questions.

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#128

Post by zarzavat » Mon, Jan 03, 2022, 7:12 AM UTC

tagoregrtst wrote: post #96

XorNot wrote: post #85

Earlier quoted context omitted.

"it worked out fine for me" is not particularly reassuring when the alternative is a lifetime of medical bills and possibly a permanent dependent.

The alternative is loving a human being and playing the cards you’re dealt

Many of these conditions would in the past have been fatal in infancy, and it is only through modern medicine that children can survive them at all. It's fair to expect medicine to provide the solution to the problem it has created. There's nothing natural about children having to live their lives in and out of a hospital.

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#129

Post by [deleted] » Mon, Jan 03, 2022, 7:12 AM UTC

CorrectHorseBat wrote: post #82

tinbad wrote: post #64

Earlier quoted context omitted.

Having gone through two twin pregnancies (where the odds of these tests being correct are especially low) we declined all of them. Anecdotally, I know of several parents who had a positive test for genetic disorder, went ahead with the pregnancy anyway and children were perfectly healthy. Until these tests are close to 100% reliable I don’t see the point.

The point is that it is a screening test. A positive test will be followed by a more invasive test that has a lower false positive rate.

[deleted]

Re: When they warn of rare disorders, these prenatal tests are usually wrong

#130

Post by Broken_Hippo » Mon, Jan 03, 2022, 7:20 AM UTC

lelanthran wrote: post #123

rayiner wrote: post #112

Earlier quoted context omitted.

Why stop there? It can be a challenge to have a kid who is ADHD, or is susceptible to depression or mental illness, or a different sexual orientation, etc. It’s not wrong to abort those children either, right?

> Why stop there? It can be a challenge to have a kid who is ADHD, or is susceptible to depression or mental illness, or a different sexual orientation, etc. It’s not wrong to abort those children either, right? But we don't stop there. The bar is considerably lower than "the kid might have problems". The mother, exclusively, can decide whether or not she wants to proceed with the pregnancy through to birth, and she…

To be fair, the pregnant woman isn't a mother yet - unless she has other children. She's deciding whether or not she wants to (or can!) cope with pregnancy and the hardships involved. She's deciding whether or not to become a mother or bring another child into the world.

And yeah, it can look like "I don't feel like it" to a casual observer, but then again, it really isn't the casual observer's business. They won't know if it was planned or the result of failed birth control, if the father was/is abusive, and a myriad of other things.

And to be absolutely clear: People would try to tell me "I didn't feel like it" - nevermind that I've never wanted children. I'd have been sterilized years ago if it were readily available and cheap in the US.