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.” That's why a clinic in the middle of Amish and Mennonite populations has a major advantage. The populations are so insulated that there's much less genetic variation than in the outside population, and the number of candidate mutations are small. Researchers at the clinic recently published on a new genetic mutation
based on a family whose six children are all blind, with abnormally small heads. The Clinic for Special Children is not just a lab, it is a clinic with a strong relationship to the local community. Knowledge of family histories and institutional memory allows for better and faster diagnoses:
“This is what genomic medicine is supposed to do,” [pediatrician Kevin Strauss] says. “If you know which people are at risk, you can determine a diagnosis before a child is 24 hours old. You can come up with a treatment based on the genetics.”
The researchers at this clinic are not the first to have studied genetic mutations in isolated populations. Discover's December issue has a feature on genetic testing in Jews
, who carry mutations for Tay-Sachs
and breast cancer. Even once we have the genetic information, there's the ethical dilemma of what to do with it. Does everyone have a right to know? Will people be shunned for simply carrying a disease-causing gene? A scientist and rabbi are at odds over what is best for the Jewish community.
Image via Flickr/ david__jones
