Personalized medicine — or the use of genomic information to inform medical diagnosis and treatment — is a concept that I've written about often for Becker's (see here and here), but a new article in Esquire of all places provides one of the best glimpses available, at least to the general population, of its powerful potential.
The article, "Patient Zero" by Tom Junod and Mark Warren, follows a single patient, Stephanie Lee, through her struggle with advanced colon cancer. Reporter Mark Warren met Stephanie in 2005 when covering military families post-Katrina. Stephanie had lost her husband in Iraq two months before her home was ravaged by Katrina, leaving her a single mother of two children, and without a home.
She reached out to Warren earlier this year after learning she had stage 3 colon cancer. The cancer was later diagnoses as stage 4 — a likely terminal diagnosis. After talking with Stephanie regularly, Warren and Junod reached out to another person Esquire written about a couple years prior: Eric Schadt, PhD, director of the Ichan Institute for Genomics and Multiscale Biology and chair of the Department of Genetics and Genomics Sciences at Mount Sinai Hospital in New York City.
Schadt had gained recognition for his work while at drugmaker Merck, but was best known for his contrarian belief that disease couldn't be understood, or cured, by isolating single genes. Instead, genes must be viewed as networks and pathways, and the best chance of understanding them would be through big data analysis. Warren explains:
"What data had taught him was that the underlying faith of molecular biology — of all biology, since Watson and Crick had elucidated the structure of the DNA molecule — was false. Untold billions had been spent in the hope that we could understand disease one gene at a time, or one genetic pathway at a time…this was a strategy doomed to fail, because disease arose not from single genes or pathways but rather out of vast networks of genes and pathways whose interactions could be understood only by supercomputers guided by abstruse algorithms."
Stephanie was accepted into a study at the Schadt's Institute, and her tissue samples were analyzed by its scientists. The "genes that were driving Stephanie's cancer would be compared with the vast libraries of reference data-bases that already exist on all kinds of cancers. Then they would be plotted against the 'network models' that the Icahn Institute is constructing, the millions of individual data points mined for their billions and even trillions of connections," wrote Warren.
While the initial analysis didn't uncover any treatment options beyond the traditional standard of care she was currently receiving, another Mount Sinai scientist, Ross Cagan, PhD, had another idea: he transplanted Stephanie's mutated genes into the body of a fruit fly. He then tested the efficacy of various drugs (and combinations of drug therapies) on the tumor in the fly, and found, amazingly, that a single drug "knocked out" the tumor. However, it wasn't yet approved to treat colon cancer.