It tells how new microarray testing technologies to find structural abnormalities in the chromosomes are making it possible for many families whose kids have rare genetic disorders to get an exact diagnosis for the first time.
Since usually no one knows what treatments work for these little-known conditions, people are finding that what helps most is to get together with other families whose kids have the same rare disorder. This actually comes across better in the article:
http://www.nytimes.com/2007/12/28/health/research/28dna.html?em&ex=1198990800&en=584ecb49c0c7776f&ei=5087%0A
This illustration of the duplications & deletions on the chromosomes, with photos of affected kids, is outstanding!
Not only that, but there's a "backstory" where another journalist interviews Amy about her work on this topic:
http://graphics8.nytimes.com/podcasts/2007/12/27/28backstory-graustark-harmon.mp3
But I don't think it adds that much.
What's better is the resource page, More Information on Chromosomal Disorders: http://www.nytimes.com/2007/12/28/us/28dnalistweb.ready.html?ref=research
On that page, I found one of the companies that's offering the microarray testing. They seem to offer pretty nice services -- the only thing I couldn't find on their website is how much they cost!
http://www.signaturegenomics.com/
It looks like it might be possible, conceivably, for consumers to order tests directly, but you're supposed to have a doctor or genetic counselor working with you -- which makes sense for this kind of testing, unless you have in-depth medical training yourself.
The article says 1/100 people have some mutation (I assume a significant one) compared to their parents. In the future we can expect that this kind of testing will come way down in price. The only question, of course, is whether we can reform the health insurance system soon enough to keep up with this -- that is, to make sure that everyone can get health care regardless of their genetic status.
