Moving Toward a World With Fewer Children With Down Syndrome
<http://www.nrlc.org/News_and_Views/Feb09/nv022509.html>http://www.nrlc.org/News_and_Views/Feb09/nv022509.html
 

Part One of Two

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"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," which appeared in the February 24 Washington Post.

Yesterday's lengthy article by Rob Stein in the 
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 fairly 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") is 
"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 sun glasses to 
night vision goggles, and from peeking 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 are gathering in DC this week 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>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.

Let me conclude with the closing paragraphs of Stein's story.

"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."

<nv022509part2.htm>Part Two -- How Easily "Voluntary" Becomes a "Duty"

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