Toward a World with Fewer Children with Down Syndrome
“The quandaries being raised by the tests illustrate the morass of issues that will arise as scientific and technological advances produce more tests to identify markers for genetic conditions—before conception, during pregnancy and even after birth. …
“‘For 50 years, folks have been working to develop a noninvasive genetic test for Down syndrome,’ said Sequenom chief executive Harry Stylii. ‘People have described it as the Holy Grail of genetic testing. We are on the cusp of delivering that.’ …
“‘It will probably take a year or two for doctors to become comfortable with that, but I think that’s where we’re headed,’ Stylii said, adding that the technology will probably be used to screen for other genetic disorders as well.” -- From “New Safety, New Concerns in Tests for Down Syndrome,” Washington Post, February 24
The lengthy article by Rob Stein in the Washington Post was as sobering an analysis of where we are in the quiet campaign to hunt down “defective” babies as you are likely to find. Things have gone from bad to worse.
Once upon a time, the tests were either fairly crude, carried a serious chance of being inaccurate or inducing a miscarriage, or could not be confirmed until the second trimester.
What the new tests “promise” (although the story carried a few cautionary notes that the technology has not yet been proven “reliable”) are “more definitive results early in the pregnancy.” It’s as if the search and destroy mission has taken a quantum leap forward, moving from walkie talkies to wireless headsets, from dime store binoculars to night vision goggles, and from peering around corners at ground level to using unmanned aerial vehicles.
We learn from Stein that at least four biotech companies “are racing to market a new generation of tests for Down syndrome.” Worse yet the technology can be employed to “screen for other genetic disorders as well.”
How does it work? Stein explains that new techniques can isolate genetic information from cells or “free-floating snippets of DNA or the related molecule RNA” that circulate in a woman’s bloodstream.
At a meeting last month, Sequenom of San Diego “reported that results from 858 women showed that its test did not miss a single case of Down syndrome and produced only one false alarm, making it much more accurate than the currently available screening tests and on a par with amniocentesis,” Stein reports. Re-read those words and ponder what they mean: “its test did not miss a single case of Down syndrome.”
Impetus for the latest onslaught came from a 2007 recommendation by the American College of Obstetricians and Gynecologists that all women—not just older women or women statistically more likely to have children with Down syndrome—be offered screening tests for Down syndrome.
Exact figures are elusive, but even with the less precise/more invasive screening upwards of 90% of babies found to be genetically “flawed” are aborted. At the same historical moment we increasingly recognize the full and equal humanity of our brethren with disabilities, we race to find ways to locate them in utero and kill them.
Stein’s story does an excellent job of illustrating our schizophrenia: “The new tests for Down syndrome come as advocates pressure Congress to fund a law passed last year aimed at ensuring that couples get accurate information about genetic conditions and at providing support for women who decide to keep their affected children or put them up for adoption.” Indeed, according to Stein, members of the National Down Syndrome Society gathered in D.C. to lobby for “$25 million over five years to implement the legislation.”
According to Madeleine Will of the National Down Syndrome Society, “These tests make this all the more important.”
One other thought on this story (which can be found at http://www.washingtonpost.com/wp-dyn/content/article/2009/02/23/AR2009022302837.html). Let’s say they can eventually diagnose with 100% accuracy very early in pregnancy.
If physicians know next to nothing about the real lives of children with a variety of genetic disorders—if they paint a distorted and unrelentingly bleak picture—they have committed the most egregious (and deadly) error of all. Any mother will tell you she is virtually putty in the hands of a physician who tells her of the “burden” the child will be—how everyone will be “better off” if she “terminates.”
It takes tremendous fortitude and a great support team to stand up to the “experts.” But there are wonderful rewards for those who refuse to buckle.
Stein’s story concludes with these three paragraphs.
“We have a nation of physicians who are unprepared for explaining a diagnosis of Down syndrome,” said Brian Skotko, a physician at Children’s Hospital in Boston who works with the National Down Syndrome Society. “Many overemphasize the negative consequences or outright urge women to terminate their pregnancies.”
Skotko, whose sister has Down syndrome, predicted such tests would result in fewer babies being born with the condition.
“Every day my sister teaches me lots of life lessons—to laugh when others are mocking me, to keep on trying when obstacles are thrown my way,” he said. “If there were a world with fewer people with Down syndrome, I think the world would miss all these important lessons.”