In 2013 Esquire magazine began a series of articles about Stephanie Lee, a 36-year old woman in Mississippi with stage 4 colon cancer. It’s an incredible story, well-told by Tom Junod and Mark Warren. You can find the first part here: http://www.esquire.com/lifestyle/news/a23509/patient-zero-1213/
The original point of the story was to discuss the path taken by Stephanie through the new world of Personalized Medicine. The authors, having met Eric Schadt,a leading biomathematician, at Mt Sinai Hospital on a previous assignment, introduced Stephanie to Schadt. Schadt offered to sequence Stephanie’s tumor and attempt to find a specific treatment targeted at her tumor. (Subsequent events bring up a whole separate set of questions about end-of-life care, medical ethics, hope, futility, and suffering that make the story thought-provoking reading.)
Personalized Medicine is all the rage right now. The government is throwing money at it, to the tune of $215 million dollars. The President of the United States himself is on board: “Personalized medicine represents a revolutionary and exciting change in the fundamental approach and practice of medicine.”
Dr. Ralph Snyderman, one of the very first advocates of personalized medicine, says the following, according to the New York Times (http://nyti.ms/1EgBvUY):
“Personalized medicine has the potential to transform our health care system, which consumes almost $3 trillion a year, 80 percent of it for preventable diseases. It focuses therapy on individuals in whom it will work. You can avoid wasting money on people who won’t respond or will have an adverse reaction.”
Well, not quite. Or at least, not yet. Esquire is, of course, not a scientific journal and the authors therein are not scientists, but the story provides a taste of the kind of odds personalized medicine is up against. Here is an excerpt from Junod and Warren’s story:
The first thing that needs to be understood about Stephanie’s data [her gene sequencing] is that there would be a lot of it. From the samples of Stephanie’s blood, the gene sequencers would generate the data about the genes in her “germline”—the genes (and the gene mutations) that she inherited from her parents and that existed in every cell of her body. From the samples sliced from her colon, the sequencers would generate data about her cancer and the mutations that produced it. But the data would be raw. It would contain millions of bits of genetic information, each one a sentence in the horror story that Stephanie’s cancer was telling—and all those sentences, at least initially, adding up to a bewildering Babel. The data would exist right on the edge of incoherence; then Schadt and his scientists would strive both to make sense of it and complicate it. That’s their trademark, and why they need a supercomputer. The genes that Stephanie was born with would be compared with the genes that were driving Stephanie’s cancer. 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.
The result would not be dissimilar to the network model portrayed on the screen of Schadt’s office on the afternoon of September 10—a blue sphere of genetic entanglement that resembled nothing less than the universe itself, with each gene a blue star and with some blue stars off by themselves and some clustered into galaxies of cellular activity. The model on the screen happened to be a model of the genes involved in aging, but the model of the genes involved in colon cancer wouldn’t look very different. There would be a globe of blue stars. Somewhere on the blue globe would be plotted the mutant particularities of Stephanie’s cancer, in red; and though the red stars would cohere into a malign galaxy the relative size of Andromeda, they would be the target of the scientists gathered that afternoon in Schadt’s office.
I won’t reveal the punchline, but all of this data crunching took a year and a half, a multimillion dollar genetics laboratory, and a bunch of the top scientists in the world. It cost hundreds of thousands of dollars (provided gratis by Mt. Sinai to their credit). Does personalized medicine show promise? Yes. Is it giving people hope? Absolutely. Is it the Cure for Cancer? Not yet.