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Archive for the ‘genetics’ Category

Sequenom shares jump after new DS test data announced

Wednesday, September 24th, 2008

From Associated Press, CNN, company press release, Fox News:

Shares of Sequenom Inc., a San Diego biotech company, rose sharply in premarket trading today after the company announced new results on a prenatal test for Down syndrome that relies on a sample of the mother’s blood.

The company announced yesterday that its SEQureDx test detected Down syndrome accurately in the first and second trimester of pregnancy in about 200 tests with no false positives or false negatives, matching earlier data from another 200 samples.  The company said it hopes to bring the test to market next summer.

Shares jumped $3.39, or 16.5 percent, to $23.95 from $20.56 during premarket training.

Presently available noninvasive prenatal screening methods for Down syndrome can only tell women the statistical risk that their fetus has Down syndrome, but do not offer a conclusive diagnosis of individual pregnancies. Presently, women must undergo amniocentesis or chorionic villus sampling in order to know for sure whether the baby they are carrying has Down syndrome. Amnio and CVS are invasive techniques that both carry a small but significant risk of miscarriage.

Analysts hailed Sequenom’s announcement, with Lazard Capital Markets analyst Sean Lavin raising his price target to $44 per share, up from $34. The company’s stock was trading at around $5 before the announcement of the new technology earlier this year.

The market for prenatal testing is estimated to have multi-billion dollar potential.

See earlier posts here.

See the company’s share price here.

Senate passes disability diagnosis bill

Wednesday, September 24th, 2008

The Senate yesterday approved by unanimous consent a bill designed to provide support to parents and prospective parents who receive a diagnosis of a disability. The measure now goes to the House, as it appears increasingly likely that Congress will extend beyond this Friday’s scheduled adjournment.

Promoted by Sens. Edward M. Kennedy (D-Mass.) and Sam Brownback (R-Kan.), the measure provides that families receiving a prenatal or postnatal diagnosis of Down Syndrome or other conditions would be offered up-to-date information about the nature of the conditions and be connected to support services. It would also set up a registry of parents willing to adopt children with disabilities.

It was among a package of health care bills that went down in July when Senate Republicans blocked them in a partisan power play, and also failed to muster the Senate’s unanimous consent last week when Sen. Brownback brought it up again. The House passed a different version of the bill earlier.

The bill, known as the Prenatally and Postnatally Diagnosed Conditions Awareness Act, represents a rare moment when advocates on opposing sides of the abortion debate join forces.

Sen. Kennedy, a staunch advocate of abortion rights for women, has promoted it as a pro-family measure that would provide needed support to couples who are routinely undergoing prenatal testing as part of obstetrical care. With more women postponing childbearing to later years, more of them are receiving diagnoses of genetic and other abnormalities in their pregnancies.

Sen. Brownback, who passionately opposes abortion, has portrayed the measure as an effort to save the lives of babies with Down syndrome. “To deny children with disabilities a chance at life will make us more insensitive, callous and jaded, and will take away from the diversity of American life,” he said in remarks on the Senate floor last week. “I don’t think this is what we were meant to do.”

Presidential candidate John McCain signed on as a co-sponsor to the bill earlier this month shortly after naming Alaska Gov. Sarah Palin as his running mate. Palin’s son, Trig, has Down syndrome.

See also:

Reid: Senate work far from finished — UPI

Finish line is slipping away for Congress – The Hill

Google co-founder says genetic test links him to Parkinson’s

Sunday, September 21st, 2008

From Scientific American, the New York Times:

Sergey Brin, a co-founder of Google, says he has a genetic mutation that increases his likelihood of getting Parkinson’s disease, a condition which is shared by his mother and her aunt.

Brin discovered the genetic mutation in a test from 23andMe, his wife’s gene-screening company. He estimated his risk of getting the disease at somewhere between 20 percent and 80 percent.

Forbes magazine recently estimated Brin’s personal fortune at $15.9 billion. He said he may help provide more money for research into the disease.

(Photo from Scientific American)

Opinion: Public should know if Palin considered abortion

Sunday, September 21st, 2008

John Krull, writing in the Indianapolis Star, says journalists should ask Sarah Palin whether she and her husband talked about abortion when they got a prenatal diagnosis of Down syndrome. Krull is director of the Pulliam School of Journalism at Franklin College in Franklin, Indiana, and former executive director of the Indiana Civil Liberties Union.

A colleague objects, he says, judging the question to be “too personal.”

Asking Sarah Palin whether she ever considered having an abortion is intensely personal. So is asking Barack Obama about his relationship with his minister and his faith. The same goes for asking John McCain about the collapse of his first marriage or Joe Biden about his grief at the deaths of family members.

But Palin, Obama, McCain and Biden are asking us something intensely personal, too. They’re asking us to trust them

Op-ed: Palin exploited Trig for political gain

Thursday, September 18th, 2008

Kevin Myers, writing in the Irish Independent, says he was “revolted” by the sight of the Palins holding Trig on the state of the Republican convention like the “trophy at the end of a World Cup Final.” An excerpt:

It would be bad enough if Trig were just the human blob that all infants are at that age, but, of course, he is more than that: he also has Down syndrome. And was that the semi-subliminal message that we were being given? That not merely is Sarah Palin a fundamentalist Christian, but she is also an anti-abortionist who consciously chose to have what used to be called a Mongoloid baby: and look, here’s his little face to prove it?

.. So this little lad became the first-ever infant to assist its mother to launch her campaign to become the vice-president of the USA. And such are the new taboos which now prevail that anyone who had referred to little Trig as a Mongoloid child would probably have been lynched.

No doubt, that is a good taboo: but, meanwhile, another taboo has apparently vanished. It is the one which protected the very young — never mind the mentally handicapped and physically impaired — from being publicly exploited by their parents for political gain …

Op-ed: Palin advances humanity of people with disabilities

Wednesday, September 17th, 2008

Writing in the [UK] Independent, columnist Dominic Lawson praises Paralympic equestrian Lee Pearson and laments the eugenic thinking that he sees reflected in the widespread use of prenatal screening for disabilities, most often Down syndrome.

Lawson reports on a recent study by Down Syndrome Education International that found that genetic screening and testing for Down syndrome is causing miscarriages of fetuses that don’t have the condition. He said the report also makes clear that doctors are advising pregnant women to have the test by giving them “anachronistically bleak” medical advice about Down syndrome.

Republican vice-presidential nominee Sarah Palin is one of a small minority of women who decide to carry to term a baby diagnosed with Down syndrome, Lawson says, and some of her political opponents see that decision “as a hostile political act.” An excerpt:

The idea that Sarah Palin made her decision as an act of love, rather than of politics, is clearly incomprehensible to some.

… By making baby Trig into a known individual, rather than a mere statistic of chromosomal abnormality, the Palins are helping the wider world to understand the crucial point: that every person with disabilities is different, not defined collectively by their limitations, but individually -– like all of us –- by unique personalities and aspirations. It is exactly the same lesson that has been taught to us by Lee Pearson.

Lawson is interviewed about the Down Syndrome Education International study on the UK’s Channel 4. Video is here.

(Photo from the Independent)

Research prompts dispute between Down syndrome groups

Wednesday, September 17th, 2008

From the BBC, [UK] Channel 4:

A UK charity representing people with Down syndrome has condemned as “unhelpful” recent research concluding that prenatal testing for the condition is resulting in widespread miscarriages of fetuses that did not have Down syndrome.

The study, conducted by researchers associated with Down Syndrome Education International, estimated that two unaffected fetuses are miscarried for every three pregnancies involving Down syndrome that are terminated as a result of prenatal screening and testing. The research estimated that 400 UK miscarriages could be attributed to prenatal testing for Down syndrome annually; an estimated 660 UK pregnancies are aborted following a Down syndrome diagnosis each year.

Speaking for the UK Down’s Syndrome Association, Professor Jennifer Wishart, professor of developmental disabilities in childhood at the University of Edinburgh, said:

“There has never been any dispute that current diagnostic techniques have associated risk and that women need to be better and fully informed of these risks.

“The ‘two for three’ emphasis - that two healthy babies are lost for every three babies with Down’s syndrome prenatally detected - simply muddies the waters.”

See also:

Earlier post here.

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More than 50 million people in the United States have disabilities, a number that is growing rapidly as the population ages. Experts say disability will soon affect the lives of most Americans. This blog attempts to explore what we know about disability, and to chronicle the efforts of people who are seeking new ways to address familiar challenges.

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