Remember a couple of years ago when people commemorated the 10-year anniversary of the first draft human genome sequencing? The storyline then, in 2010, was that we all went off to genome camp and only came home with a lousy T-shirt. Society, we were told, invested huge scientific resources in deciphering the code of life, and there wasn’t much of a payoff in the form of customized, personalized medicine.
That was an easy conclusion to reach then, when personalized medicine advocates could only point to a couple of effective targeted cancer drugs—Genentech’s Herceptin and Novartis’ Gleevec—and a couple of diagnostics. But that’s changing. My inbox the past week has been full of analyst reports from medical meetings, which mostly alerted readers to mere “incremental” advances with a number of genomic-based medicines and diagnostics. But that’s a matter of focusing on the trees, not the forest. This past year, we witnessed some really impressive progress from the early days of “clinical genomics” or “medical genomics.” The investment in deep understanding of genomics and biology is starting to look visionary.
The movement toward clinical genomics gathered steam back in June at the American Society of Clinical Oncology annual meeting. One of the hidden gem stories from ASCO was about little companies like Cambridge, MA-based Foundation Medicine and Cambridge, MA-based Knome that started seeing a surprising surge in demand from physicians for their services to help turn genomic data into medical information. The New York Times wrote a great story a month later about a young genomics researcher at Washington University in St. Louis who got cancer, had access to incredibly rich information about his tumors, and—after some wrestling with his insurance company—ended up getting a targeted drug nobody would have thought to prescribe without that information. And last month, I checked back on Stanford University researcher Mike Snyder, who made headlines this year using a smorgasbord of “omics” tools to correctly diagnose himself early with Type 2 diabetes, and then monitor his progress back into a healthy state.
Notice the pattern here—the stories here aren’t all about drugs. They are about the value of new biological information.
This month at the American Society of Hematology (ASH) meeting in Atlanta, GA, another new front opened up in the ongoing story of “clinical genomics.” A couple of small and intensely competitive private companies—Seattle-based Adaptive Biotechnologies and South San Francisco-based Sequenta—had emerged on the national stage with valuable new approaches to diagnosis and disease monitoring. It’s through what is sometimes called “immune profiling.”
A little bit of science is required here to understand what Adaptive and Sequenta are doing, and why it’s important. While the 3-billion-letter signature of DNA that makes up a human genome is consistent in almost every cell of the body, the immune system’s B cells and T cells are an exception. In these cells, DNA gets shuffled around in a vast array of new combinations, allowing T cells to recognize specific invaders such as flu viruses, and allowing B cells to generate antibodies against them.
Until recent advancements made DNA sequencing super-fast and super-cheap, nobody had any way to really look closely at the whole kaleidoscope of immune diversity, or the “immune repertoire” that resides within any individual like you or me.
But gene sequencing instruments have come a long way
