The not-so-brave new world

I'm sure by now you have heard about the scientific discovery made by a group of Boston based hospitals that connects chromosome 16 with autism. Reading about these types of discoveries makes me automatically wince now. I understand the road this type of discovery becomes. What appears to be promising, life-changing medical discoveries in the beginning turn out to be more of an ending. Identifying the chromosomal culprit to what make people unique is usually the end of the line. Promises of treatments and therapies are actually smoke and mirrors that deflect your attention to the actual application of these discoveries.

Last Updated: Wednesday, January 9, 2008 5:11 PM ET
CBC News

Researchers have identified a chromosomal abnormality that seems to increase a
person's chances of developing autism.
A group of U.S. researchers,
associated with a group of Boston-based hospitals known as the Autism
Consortium, conducted complete genome scans of 1,400 samples of DNA from
families of autistic children.
They found that in one per cent of people with
autism, or similar disorders, a portion of chromosome 16 is either absent or
duplicated. This is not inherited from the parents.
To ensure this
finding held true in other autism patients, researchers then examined the
data of 1,000 patients from Children's Hospital Boston — about fifty per cent of
whom had been formally diagnosed as being autistic or having a developmental
problem.
Among those children with developmental issues, five had the same
deleted section of chromosome 16, and another four had a duplicated
chromosome.
The researchers caution that it is still early days in genetic
research into autism.

"We're still a long way from understanding how this
chromosomal deletion or duplication increases the risk for autism, but this is a
critical first step toward that knowledge," said Mark Daly, the study's senior
author for gene discovery, in a release.
The study is published online
Wednesday in the New England Journal of Medicine.
To date, only 10 per cent
of all autism cases have been traced to genetic and chromosomal abnormalities,
say the authors.
"These large, non-inherited chromosomal deletions are
extremely rare," said Daly, "so finding precisely the same deletion in such a
significant proportion of patients suggests that it is a very strong risk factor
for autism.
"We're now pursuing more detailed genetic studies to figure out
which genes in this region are responsible for this effect in order to gain a
better understanding of the underlying biology and potential clues to
therapeutic approaches."

When researchers identified the chromosomal difference that results in Down syndrome I'm sure it was accompanied by great fanfare. Surely treatments and therapies where just around the corner to enhance the lives of people living with T21. That was not the case at all, the research ended right there. The job was done. Now it was up to doctors to use this information to convince mothers that they now had a choice about their unborn child. The new science suddenly made children with Down syndrome optional. I suppose the impetus for the original research was to improve the lives of people with T21, but somehow that morphed into no life is better than a life with Down syndrome. Medical science, itself, became a bastardized version of the "do no harm" medicine we could all have hope and faith in. People are afraid of what the three 21st chromosomes mean, yet the shift from medical care to medical elimination of people with differences seems to go unnoticed. This phenomena is a far scarier societal practice than what any diagnosis brings to us. There is irony in this fact, as we are just learning ourselves what the potential of people with various diagnosis are, medicine shifts to eliminate this whole experience of human discovery. Science is looking far too microscopically at us now and forgetting that those tiny bits of us that raise so much cause for concern are wrapped up by actual living, feeling, contributing, dynamic people that are far more than the sum of their "parts". It's time for scientists to step away from the electron microscopes for a moment, to remember that these fascinating bits and pieces are just that, bits and pieces that tell a fraction of the story of us.

As I listening to the gushing news anchors celebrate these chromosomal discoveries I am hardly impressed, because I know the rest of the story already, and it's got a sad ending.