Not much new here for long time readers but definitely some thought provoking commentary on the non science side. (I didn't bring much of that content over to the site) Seeing how much the parents of America spend so their kids can get to the "best schools" or "be on the best sports team" or "have the best ballet teacher" it is inevitable that a reach for "the best baby I can have" will be part of the future... even though that raises some very science fiction type questions.
- Learning about the genetic health of an unborn child could soon be as simple as giving blood. A new prenatal test is slated to hit the market this summer that requires nothing more than a sample of a pregnant woman's blood for doctors to analyze the DNA of her developing fetus.
- Current methods to collect fetal DNA, such as amniocentesis, involve an intrusion into the uterus that can trigger a miscarriage – a risk that makes many couples refuse the procedure. But after 30 years of effort, science appears to be on the cusp of delivering a safe, non-invasive test that can detect Down syndrome and other genetic conditions by capturing the minute bits of fetal DNA in a pregnant woman's bloodstream.
- Yet as with most advances in reproductive medicine, the new technology is raising tricky social questions. While some see it as a better way to prepare parents and hospitals to care for newborns with special needs, others fear it smacks of eugenics as science makes it ever easier to reject a less-than-perfect baby.
- But if the promising preliminary results hold up, experts say the tests, which can be performed early in pregnancy, will revolutionize the field. “This is a powerful technology,” said Doug Wilson, head of the genetics committee of the Society of Obstetrics and Gynaecology of Canada. “If it can be proven to be as accurate [as current diagnostic methods] it will become the new diagnostic gold standard. “If it can be done at 10 weeks, instead of 16 weeks, it will relieve the stresses of pregnancy early.”
- “People with Down syndrome are very concerned about the emergence of tests that aim to eliminate them from the world,” said the society's executive director, Krista Flint. “Down syndrome is a bellwether – if this is an easy test, it is just a matter of time before it's used to determine other things, and sometimes just because we can do something doesn't mean we ought to.”
- Tests to determine the sex of a fetus, screen for Down syndrome and chromosomal abnormalities known as trisomies 13 and 18 will be the first on offer. But CEO Harry Stylli said the company plans to develop screening tests for a range of other disorders, such as cystic fibrosis, sickle cell anemia and Tay-Sachs disease.
- Mr. Stylli admits Sequenom needs results from much larger trials before it can be considered a diagnostic test and says the company will restrict its claims as it begins selling the procedure.
- The prospect of a simple blood test that could be performed early in a pregnancy “will be warmly welcomed by all pregnant women,” Ms. James predicted. “It would spare so much mental anguish.”
- Dr. Wilson of the obstetrics society noted that even the best current screening methods result in a number of women being told they are carrying a baby with Down syndrome when they are not. “You could have 10 to 15 women who screen positive, but only one of them will be a true positive,” said Dr. Wilson, also head of obstetrics and gynecology at the University of Calgary and Foothills Hospital.
- U.S. statistics suggest that 80 to 95 per cent of women who receive an early prenatal diagnosis of Down syndrome choose to end their pregnancies, she noted. In Canada, the number cannot be tracked due to privacy regulations.
- Yet even before the completion of large trials for Down syndrome, the company has been fielding calls from women across North America anxious to try the new screening test, he said.
[Jan 29: Sequenom Results Good]
[Jan 14: Some Muss and Fuss over at Sequenom]
[Dec 31: Sequenom Continues to Pick up Recognition]
[Dec 18: Sequenom in Investors Business Daily]
[Oct 30: Sequenom Misses But We Don't Really Care]
[Oct 7: Sequenom Down 8% on "Competition" Threat]
[Sep 23: Sequenom - All Systems Go on Down Syndrome's Test]
[Aug 13: Beginning Stake in Sequenom]
Long Sequenom in fund; no personal position
4 comments:
I read somewhere that 95% of diagnosed cases of prenatal Down syndrome result in termination of pregnancy. So I guess its a very valid moral issue and could get a little sticky in future and so could the other prenatal diagnosis that SQNM is looking to provide
NW, I don't see it as an issue. This is the same decision people have been making for years. it would be different if this was the first time there was ever a screening. That would be "new". This is just a newer version of the same screening - so the moral question has already been out there for a long time.
The bigger issue is a chart that stinks :)
TradeMark, You are correct in saying this moral question has been out there a long time. Where you are incorrect though, is saying that this will not be an issue. A test that is a simple blood draw, as early as this in a pregnancy, coupled with the fact that the ACOG is recommending all woman get screened, is a recipe for a much larger number of babies being terminated due to misinformation and lack of support by medican providers. The conversation concerning the results of this test, has not kept up pace with the rate at which this test is scheduled to be launched. It is predicted to increase the rate of termination of individuals who happen to have Down syndrome, which some do not deem a good thing. Perhaps your biggest concern is the chart, but that is not everyone's biggest concern. There is an organization that is very concerned about this test. http://idscforlife.wordpress.com/ They are hopeful that they can get the word out there that Ds is nothing to fear. When a mother is pregnant, and vulnerable, that is not the time to learn about this. The time is now. We hope that people will get educated on what it really means to have Ds, and the beauty that individuals who happen to have Ds bring to our world.
I think if a women undergoes this test she and her partner thought about the possibilities beforehand. In case the test comes back positive, they should receive counseling. But the choice whether Down's syndrome is something a couple finds acceptable or not should be personal and not influenced and lobbied by others. Obviously if you find it totally acceptable, you would not undergo the test. I can see there are religious reasons coming into this and everybody will have to decide on their own personal circumstances. But there are also people out there who may not want to bring a Down fetus to terms.
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