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

nytimes.com

101–110 of 176 posts

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

#101
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

with one of those cards being a lifetime of medical debt

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

#103
post #85
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.

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

Depending on what state/country you live in, care for a disabled citizen may be partly or wholly paid for by the state. The parents may also be able to become qualified caregivers, in which case they can be paid to take care of the child.

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

#104
post #70

IMHO, some of those criticizing the article for failing to understand statistics are missing the point. The point is that people who get a "positive" result on these tests are often put through terrifying levels of anxiety when there is no actual problem; this anxiety is often exacerbated because they aren't informed of the false positive rate. This clearly has a harmful emotional effect on people, and explaining the…

If you get a positive for a horrid cancer with a 90 percent false positives you should be afraid. Its lunacy for tests to be regulated beyond requiring rough false positive false negative rates, and if anything smacks of "I dont understand statistics and therefore have to protect my children from understanding statistics." The article is most likely written by some anti abortion idiot.

> Its lunacy for tests to be regulated beyond requiring rough false positive false negative rates

There is a good reason tests are described in terms of sensitivity and specificity ("if the answer in reality is yes, how often will the test say no?") rather than in terms of false positive or false negative rates ("if the test says no, how often is the true answer yes?"). The sensitivity and specificity are facts about the test which can conceptually stay constant[1] as you apply the test to different people. False positive and false negative rates do not have that property; they are facts about the group you're performing tests on just as much as they're facts about the test.

[1] This is not to say that the sensitivity and specificity of a test do stay constant as you apply the test to different populations. Often they won't. But it is a theoretical possibility, and even that isn't true for false negative rates.

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

#105
post #66
post #20

How did this article, written by someone who clearly lacks an understanding of basic statistics, make it into the Upshot? They try to make it seem like the test is wrong 85% of the time, but that's not necessarily the case. All we know from the article is that 85 / 100 positive results are false positives, which means the test could actually be quite accurate. If the test correctly identifies 100% of real cases, then…

Would a test that reported 100% positive similarly be "quite accurate"? It would catch all true positives, right?

No post body was provided.

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

#106
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

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 context of before a child is born.

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

#107
post #40
post #36

Earlier quoted context omitted.

I disagree. It is clear from the title, “When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong”, and the lead that they’re focusing on false positives.

It's true they are focusing on false positives, but the authors are using the ratio of false positives to true positives to paint a picture that the tests are inaccurate, when in reality the tests are accurate. What this article is looking at is called the "sensitivity" of a test: https://en.wikipedia.org/wiki/Sensitivity_and_specificity

I don't think that it's useful for articles like this to try to educate readers on the way that a precision-recall curve works (and how that differs from the statistical definition of accuracy). Honestly, that would just confuse the vast majority of readers when it's simpler to point out that the tests produce more false positives than they might otherwise expect. Also note that even if we want to be incredibly pedantic, the article never calls the tests "inaccurate" and instead uses a layperson term without a hidden definition ("wrong").

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

#108

My wife and I went through this a couple of years ago, with a 10 week NIPT calling a rare trisomy (chr 9), which is always fatal within a few weeks of birth. It was absolute hell. The key problem here is the waiting and uncertainty. You have the NIPT at 10w, but you can’t have the amniocentesis until several weeks later. When that came back fine, there were questions about whether it was a “mosaic” meaning only a sma…

Why was there doubt surrounding an entire chromosome trisomy? My understanding was that it is easy to have high confidence about that since allele frequencies in the sequence reads are skewed across the entire chromosome.

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

#110
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.

Depending on what state/country you live in, care for a disabled citizen may be partly or wholly paid for by the state. The parents may also be able to become qualified caregivers, in which case they can be paid to take care of the child.

It's still a full time job that precludes you from doing a great many normal family activities for the child's entire lifetime. There is also the danger that your state may elect budget hawks who decide to cut funding for the programs halfway through your child's life, leaving you on the hook for ruinous medical expenses. It can also be very unfair to your other children who are going to basically lose out on activities because their disabled sibling requires too much care.
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