Prenatal Search-and-Destroy Genetic Tests Often Wrong
Originally published at National ReviewEugenics is alive and well with prenatal testing deployed to detect conditions — such as Down syndrome and dwarfism — toward the frequent end (and often, purpose) of ensuring that offending babies are never born. Iceland, thus, brags that almost no Down children make it to birth. What a tragedy for the babies, parents, and Icelandic society.
But here’s the thing. Prenatal-testing companies are making a lot of money selling early-gestation, prenatal blood tests that search for rare genetic conditions beyond Down syndrome. Moreover, their test results are often wrong. From the New York Times story:
In just over a decade, the tests have gone from laboratory experiments to an industry that serves more than a third of the pregnant women in America, luring major companies like Labcorp and Quest Diagnostics into the business, alongside many start-ups.
The tests initially looked for Down syndrome and worked very well. But as manufacturers tried to outsell each other, they began offering additional screenings for increasingly rare conditions.
The grave predictions made by those newer tests are usually wrong, an examination by The New York Times has found. That includes the screening that came back positive for Ms. Geller, which looks for Prader-Willi syndrome, a condition that offers little chance of living independently as an adult. Studies have found its positive results are incorrect more than 90 percent of the time.
Think of the consequences. The increased abortions. The family stress.
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.
When Meredith Bannon’s pregnancy tested positive for DiGeorge syndrome, a nurse called and told her she and her husband would soon face “tough decisions” related to their child’s “quality of life,” which Ms. Bannon took to mean a choice about whether to end the pregnancy.
The call came as Ms. Bannon was driving to her parents’ house, with her son in the back seat wearing a “big brother” T-shirt. “I was coming home to tell them that I was pregnant, but instead I had to tell them the news I got this horrible result back,” Ms. Bannon recalled.
Further testing revealed that the result was wrong. Her baby is due in April.
But the increased testing for very rare conditions seems to be profit-driven rather than limited to circumstances where it could be medically indicated.
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.”
According to the story, the FDA does not regulate these tests. Such mostly unnecessary and unwarranted testing also illustrates an “avoid every possible risk” approach to health care that makes costs unmanageable.
The modern drive to exert near absolute control — and to not only have a baby, but the baby we want — leads to deleterious consequences and tragic outcomes.
The companies have known for years that the follow-up testing doesn’t always happen. 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.
Three geneticists recounted more recent examples in interviews with The Times. One described a case in which the follow-up testing revealed the fetus was healthy. But by the time the results came, the patient had already ended her pregnancy.
Ultimately, I blame us. Our culture no longer tolerates “imperfection.” If you doubt me, look at the seething hatred to which Sarah Palin was subjected because she chose to give birth to Trig, knowing he has Down syndrome.
We talk a great game of tolerance and acceptance of differences. But we don’t really mean it.