NY Times: Pre-natal tests for genetic disorders are inaccurate about 85% of the time

This story is interesting for a couple of reasons. The first is the topic itself. The NY Times has looked closely at a number of pre-natal blood tests designed to show if a developing baby has one of several genetic abnormalities. These tests were originally designed to detect Down syndrome but over time testing companies have claimed their tests can detect other, rarer genetic problems known as microdeletions. However, the analysis by the Times found that in the vast majority of cases the results offered by these tests are false positives.

It is clear some of the tests are in widespread use. One large test maker, Natera, said that in 2020 it performed more than 400,000 screenings for one microdeletion — the equivalent of testing roughly 10 percent of pregnant women in America…

The analysis showed that positive results on those tests are incorrect about 85 percent of the time…

Some said the blood screenings that look for the rarest conditions are good for little more than bolstering testing companies’ bottom lines.

“It’s a little like running mammograms on kids,” said Mary Norton, an obstetrician and geneticist at the University of California, San Francisco. “The chance of breast cancer is so low, so why are you doing it? I think it’s purely a marketing thing.”

When contacted by the Times about the results of this analysis, several of the largest companies refused to be interviewed. A pregnant woman who receives a positive on one of these tests is supposed to have a follow up test to make sure the test results were accurate. However, those follow up tests require a large needle to collect amniotic fluid and include a small risk of miscarriage. They are also expensive, several times more expensive than getting an abortion. So in reality, some women choose to have an abortion without a follow up test.

A 2014 study found that 6 percent of patients who screened positive obtained an abortion without getting another test to confirm the result. That same year The Boston Globe quoted a doctor describing three terminations following unconfirmed positive results…

In interviews, 14 patients who got false positives said the experience was agonizing. They recalled frantically researching conditions they’d never heard of, followed by sleepless nights and days hiding their bulging bellies from friends. Eight said they never received any information about the possibility of a false positive, and five recalled that their doctor treated the test results as definitive…

Genetic counselors who have dealt with false positives say some doctors may not understand how poorly the tests work. And even when caregivers do correctly interpret the information, patients may still be inclined to believe the confident-sounding results sheets.

The Times spoke to a 25-year-old woman named Cloey who received a positive showing her baby has Patau syndrome or trisomy-13 which is usually fatal within days of birth. In her case, Cloey’s doctor told her that the tests were wrong more than 90% of the time but even so she found herself expecting the worst. After additional tests she learned the blood test was a false positive. She told the Times, ” I wish that we would have been informed of the false positive rate before I agreed to the test.”

I mentioned this story was interesting for a couple of reasons. The other one is that the co-author of this story is Sarah Kliff. You many not remember her from her days at the Washington Post but she was their health policy reporter for a while and, while there, refused to write anything about the Kermit Gosnell trial because it was just a “local crime” story.

The idea that the man who may in fact be the most prolific serial killer in history, whose crimes were abetted by pro-abortion policy and politicians in Pennsylvania wasn’t worth covering as anything but local news struck many of us at the time as the very worst kind of progressive gaslighting. Mollie Hemingway, who asked Sarah Kliff the question back in 2013, wrote this appropriately snarky take on Kliff’s response:

So when a private foundation privately decides to stop giving money to the country’s largest abortion provider, that is somehow a policy issue deserving of three dozen breathless hits. When a yahoo political candidate says something stupid about rape, that is a policy issue of such import that we got another three dozen hits about it from this reporter. It was so important that journalists found it fitting to ask every pro-lifer in their path to discuss it. And when someone says something mean to a birth control activist, that’s good for months of puffy profiles.

But gosh darn it, can you think of any policy implications to this, uh, “local crime” story? And that’s all it is. Just like a bunch of other local stories the Washington Post also refuses to cover – local crimes such as the killing of Trayvon Martin and the killing of Matthew Shepard and the killing of students at an elementary school in Connecticut. Did the Washington Post even think of covering those local crime stories? No! Oh wait, they did? Like, all the time? Hmm. That’s weird. But did they cover them in terms of policy implications? Asking politicians for their views and such? Oh they did that, too? Hmm. So weird. Oh, and Sarah Kliff herself wrote one of those stories? Well, gosh, I’m so confused.

And what policies could possibly be under discussion with this Gosnell trial? Other than, you know, abortion clinic hiring practices? And enforcement of sanitary conditions? And laws on abortion practices that extend to killing live infants by beheading them? And the killing of their mothers? And state or federal oversight of clinics with records of botched abortions? And pain medication practices? And how to handle the racist practices of some clinics? And how big of a problem this is (don’t tell anyone but another clinic nearby to Gosnell was shut down this week over similar sanitation concerns)? And disposal of babies’ bodies? And discussion of whether it’s cool to snip baby’s spines after they’re born? And how often are abortion clinics inspected anyway? What are the results of inspections? When emergency rooms take in victims of botched abortions, do they report that? How did this clinic go 17 years without an inspection? Gosh, I just can’t think of a single health policy angle here. Can you?

So it’s interesting that the person who ignored the Gosnell story (for obvious reasons) is now writing a story, one implication of which is that some women are aborting perfectly healthy babies because of bio-tech companies trying to make a profit on inaccurate tests. Granted, Kliff and her co-author don’t devote a lot of time or space to considering that but they do at least mention it which is really more than Kliff did with the Gosnell case.

Via    Hot Air

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