What will we do with the knowledge?
Reports from the internet this week bring news of a new non-invasive prenatal screening test for Down syndrome which we are sure will prove to be very controversial and will raise many questions and issues should it's recent successes lead to an eventual product launch.
On Wednesday last (04.06.08) , Sequenom, a San-Diego based company which provides genetic-analysis solutions announced details of screening studies for Down syndrome which it had carried out on a new non-invasive screening technology which it is developing.
Traditional prenatal screening requires taking a sample of the amniotic fluid which lies around the foetus in the womb to detect chromosomal defects. The screening which Sequenom is researching extracts Fetal Nucleic acid material from the maternal blood to determine the genetic status of the fetus.
In the blind screening studies which they carried out amongst 200 clinical samples, the test for Down syndrome correctly identified 100% of all Down syndrome samples without any false-negative outcomes.
This startling early indicator of success led to a 22% increase in the company's share price in recent days but leaves us wondering what the availability of a test of this kind would mean for the future of people with Down syndrome.
Would young parents faced with the finality and surity of knowledge that this test could possibly provide chose to go full term with the pregnancy? Would we go from trying to protect and improve the life opportunities for people with Down syndrome to trying to protect their opportunity for life?
Let us know your thoughts on this subject - www.sequenom.com
As long as there is money to be made out of this research, money will continue to be put in. And as the American College of Gynaecologists and Obstetricians is recommending that pregnant women of all ages in the US go for prenatal screening, there will continue to be huge revenue to be gained from this type of testing. No doubt it will eventually reach our shores and we believe that with its arrival will have to come a review of the way counselling is delivered by medical professionals. In Spain, 95% of prenatal diagnoses are terminated - better and more information has to be provided to parents to allow them make an informed choice rather then one based on fear of the unknown.
Posted on August 4, 2008
I think we need to stop throwing money into trying to detect down syndrome babies and destroying them and put the money into medical research to help the problems they face particularly with brain function. They are just people and to quote my brother when my little girl was born "they are just people with all the badness taken out"
Posted on August 3, 2008