Before I get into the happenings of 2014, I'd like to thank all of you for the terrific feedback we received on the interview I did with Atul Gawande that posted on the site in December. He's certainly one of the most intriguing people in the world of medicine. I plan to continue my mission for the One-on-One series: to bring you in-depth conversations with the practice of medicine's equivalents to "the most interesting [people] in the world" (think Dos Equis, if you watch enough TV).
New and Noteworthy in Cancer and Pharmacogenomics
The new year got off to a fast start, and I want to highlight a few noteworthy points of progress.
Let me start off with the provocative New York Times op-ed, "Why Everyone Seems to Have Cancer," written by George Johnson, who also recently published a book, The Cancer Chronicles. In the Times piece he points out that cancer deaths are actually not as frequent as deaths from heart disease. A graphic from the Times, which combines information from the Centers for Disease Control and Prevention and the National Vital Statistics System, demonstrates this point.
Johnson points out that somatic mutations march on as we get older, and even targeted drugs have not had a durable impact on these mutations because resistance to these drugs frequently emerges 9-12 months after an initial remarkable response.
The relatively flat curve for cancer deaths since data were first available in 1958 is indeed sobering. But Science highlighted -- as the "Breakthrough of the Year" -- the use of immunotherapy for cancer and the marked responses that drugs like PD-1 inhibitors are having in the clinic. And an article published in Nature on the delineation of cancer mutations across 21 tumor types continues to add momentum to cracking the biologic underpinnings of this disease. So I remain optimistic, what with all the tools we have, that someday the cancer curve will resemble the heart disease curve in the above graphic.
Also in genomics, I'd like to mention a major report on pharmacogenomics and the response to lithium for bipolar disorder. A sequence variant fully predicted whether there would be a clinical response in a cohort of Han Chinese individuals, with replication and an odds ratio of 120! Very high odds ratios are not so unusual with drug response or major side effects, and I have included a table below that I put together to show the top odds ratios reported so far. Sadly, we are sitting in prescription medicine darkness, whence there are over 6000 medications and there are genomic data for less than 2% of them. Much more needs to be done for commonly prescribed meds and for those in clinical investigation.