In January, programmers in Toronto began testing a system for trading genetic information with other hospitals. These facilities, in locations including Miami, Baltimore, and Cambridge, U.K., also treat children with so-called Mendelian disorders, which are caused by a rare mutation in a single gene. The system, called MatchMaker Exchange, represents something new: a way to automate the comparison of DNA from sick people around the world.
One of the people behind this project is David Haussler, a bioinformatics expert based at the University of California, Santa Cruz. The problem Haussler is grappling with now is that genome sequencing is largely detached from our greatest tool for sharing information: the Internet. That’s unfortunate because more than 200,000 people have already had their genomes sequenced, a number certain to rise into the millions in years ahead. The next era of medicine depends on large-scale comparisons of these genomes, a task for which he thinks scientists are poorly prepared…
So imagine that in the near future, you had the bad luck to develop cancer. A doctor might order DNA tests on your tumor, knowing that every cancer is propelled by specific mutations. If it were feasible to look up the experience of everyone else who shared your tumor’s particular mutations, as well as what drugs those people took and how long they lived, that doctor might have a good idea of how to treat you. The unfolding calamity in genomics is that a great deal of this life-saving information, though already collected, is inaccessible. “The limiting factor is not the technology,” says David Shaywitz, chief medical officer of DNAnexus, a bioinformatics company that hosts several large collections of gene data. “It’s whether people are willing.”…