Richard Dawkins & the danger of generalisation in 140 characters

You have probably noticed that I don't normally jump on the bandwagon when someone makes a crass comment about disability - I might send a tweet or two but that's as far as it goes, I tend to think the Cllr Colin Brewer's of this world are not the mass voice of reason and intelligence and only represent a minority.

But today I really feel the need to write about someone who commands a huge global audience and is well known for his reasoned arguments based on scientific logic.  Richard Dawkins is a respected scientist, Vice President of the British Humanist Association and Ethologist.  He is the author of many best selling books on Science and Atheism and commands a huge worldwide following.

Too much information?

An article appeared in the New York Times this week announcing a breakthrough in antenatal testing which is non-invasive so carries no miscarriage risk but could potentially identify up to 3,000 genetic diseases caused by gene mutations

http://www.nytimes.com/2012/06/07/health/tests-of-parents-are-used-to-map-genes-of-a-fetus.html?_r=1

At the moment antenatal screening is limited to a handful of know disorders such as Downs, or where there is an inherited risk such as Cystic Fibrosis.  The definitive test involves an invasive procedure, either amniocentesis or CVS (chorionic villus sampling) to obtain genetic material in order to establish the baby's karyotype and whether they are carrying a known genetic disease.

Genome mapping and it's applications was in its infancy when Daisy was born but within a year the mutation for Costello Syndrome had been identified and there is now a theoretical chance that babies could be diagnosed antenatally with the syndrome.  This new test also means that screening can be done for a huge range of known genetic syndromes without any risk of miscarriage. Pandora's Box has been opened....

When I was pregnant with Daisy, we were given a 1:4 chance of having a child with Downs.  We had breezed into the scan, with a family holiday booked for the end of the week and feeling like we were old hands at this pregnancy game, that's when the first of the thousands of Daisy-shaped curve balls hit us.  The consultant seemed to spend ages looking at the monitor and then made an excuse to leave the room, when he came back it was with a Nurse - we now know she is the nurse specialist for Fetal Medicine and that's when we were told that our chances of having a baby with Downs were 1 in 4.  And all that was mentioned was Downs, or at least that's what we heard, we went home and I googled and read and tried to remind myself that 1 in 4 meant that the odds were still in our favour (just!).