The Clinic for Special Children is “probably the only medical centre today with both a hitching post and an Ion Torrent DNA sequencer,” writes Trisha Gura in a Nature profile of the clinic. In the heart of Amish and Mennonite territory in Pennsylvania, it serves a population known best for technologies like the horse and buggy. Yet this might just be the frontier for personalized genomic medicine.
Genomic medicine promises, among other things, to diagnosis rare diseases by looking at an individual person’s DNA mutations. Genome sequencing was used to diagnose a boy’s mysterious illness for the first time in 2010. However the long process of his diagnosis, as highlighted in the Milwaukee Journal Sentinel’s Pulitzer Prize-winning coverage, also proves how difficult genomic medicine is: Compare the genomes of any two people and you’ll find tens of thousands of differences. “We’ve talked about the thousand-dollar genome and the million-dollar interpretation,” says genomicist Eric Topol, to Nature. “The challenging bottleneck is the process of trying to nail down which DNA variation is the root cause.”