December 25, 2010
Genome Sequencing Enables Genetic Disease Treatment

Full sequencing of a 3 year year old's genome enabled identification of a life-threatening mutation and a successful treatment using donor cord blood stem cells.

A collaborative team of scientists and physicians at the Medical College of Wisconsin and Children's Hospital of Wisconsin uses genetic sequencing to identify and treat an unknown disease.

For the one of the first times in medical history, researchers and physicians at The Medical College of Wisconsin and Children's Hospital of Wisconsin sequenced all the genes in a boy's DNA to identify a previously-unknown mutation. The team was able not only to identify the mutation, but to develop a treatment plan using a cord blood transplant, and stop the course of the disease.

The poor little 3 year old, Nicholas Volker of Monona, Wisconsin, had already undergone 100 (!) operations for his disease. After sequencing his genome and spending 3 months looking for potential candidate mutations the researchers narrowed in on a mutation, decided on a cord stem cell transplant, identified a compatible donor, and did the transplant. Now the little kid is at home and eating a normal diet without further symptoms of bowel disease. Amazing.

This result is a sign of the times. Where sequencing a full genome took years and hundreds of millions of dollars back in the 1990s it now takes at most a couple of tens of thousands of dollars for a fast sequencing. The trend on DNA sequencing costs is down, down, down. In the next few years costs will drop below $1000.

If you want to be an early adopter of genetic testing technology you ought to think seriously about getting yourself tested in 2011. The early adopter phase for genetic testing won't last more than another year or two. The full genome sequencing early adopter phase will probably run a few years longer. I'm planning to get full genome sequencing done in 2013 or 2014.

Share |      Randall Parker, 2010 December 25 11:04 PM  Biotech Genetic Diseases

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