Mark Wanner (@markgenome) followed graduate work in microbiology with more than 20 years of experience in book publishing and scientific writing. His work at The Jackson Laboratory focuses on making complex genetic, genomic and technical information accessible to a wide audience.
The genomic medicine field in 2012 provides a lesson in incremental progress.
On the surface, it wasn’t a great year. There was little in the way of dramatic discoveries, and the early hoopla about sequencing advances died fairly quickly to a low murmur. Some of the splashiest headlines didn’t do the field justice either. Genomes are not robustly predictive for health status in non-patients! (We already knew this, at least within the context of our current understanding.) Junk DNA is not junk! (We already knew this, though most of the regulatory mechanisms at work in non-coding regions of the genome remain to be elucidated.)
Still, tremendous work was and is underway. The work may lack pizzazz from the outside, but it’s providing the foundation needed for the effective implementation of clinical genomics. A couple of years ago, genomics research was still remote from the clinic, with only a couple of notable exceptions. The past year may well be remembered as the time when it began to be medically relevant in practical as well as aspirational ways.
Perspective on the positive side of the coin arrived recently in the form of a post on xconomy.com titled “2012: The Year When Genomic Medicine Started Paying Off.” Despite the title, it’s less of an overview of genomic medicine and more an exploration of two startup companies, Sequenta and Adaptive Biotechnologies, and their startling progress in finding and characterizing genetic rearrangements in immune cells relatively cheaply and easily. I hadn’t realized that this was the backstory to one widely covered medical success—the elimination of what would have been a fatal leukemia in a young girl using altered T cells. The companies are still working on bringing practical applications to the clinic, but the story of the contrast between how they were received at a medical conference this year versus last year indicates that a vital constituency—the doctors themselves—are beginning to get on board.
Another advance that received less attention than I thought it deserved, though I gave it some ink here, was the use of genome sequencing in a neonatal ICU. Its significance was that it took a valid objection to clinical genomics—it takes too long to analyze the data in urgent clinical settings—and debunked it using current technology. It was a proof-of-concept study, but with its relatively low price, $13.5k, and quick turnaround, 48 hours, both rapidly coming down even more, it may well be a gateway study for clinics deciding when to implement the technology. For serious, unknown genetic diseases such as those seen in neonatal ICUs, it’s pretty much ready for prime time now.
Perhaps most importantly, an attitude shift continues. It has been subtle and gradual, but significant nonetheless. Occasional commentaries still complain about genomic medicine being overhyped (sometimes validly), but the hue and cry has largely been replaced by quieter contemplation of how to implement genomic advances in a safe, secure way. Consider a recent headline from a Wisconsin newspaper, where clinical genomics truly made its first big splash a couple of years ago through the curing of a young boy with a rare intestinal disorder. They’re ahead of the curve in Madison to be sure, but the headline, “Pace of genomic medicine creates challenges,” made me smile. The issues covered should be familiar to regular readers of these posts, but it’s nice to see a sense of urgency around solving the “challenges” to the system described in the article.
In a post from February I quoted Gholson Lyon, a leading human genome researcher, as characterizing the transitional state of affairs as “the Wild West for human genome sequencing.” Since then the West has become a little less wild, as the clinical value of human genome sequences becomes, little by little, more apparent.