Posts Tagged precision medicine

“Precision medicine”: Hope, hype, or both?

The cost to sequence a whole genome has been plummeting impressively since 2007.

The cost to sequence a whole genome has been plummeting impressively since 2007.

I am fortunate to have become a physician in a time of great scientific progress. Back when I was in college and medical school, the thought that we would one day be able to sequence the human genome (and now sequence hundreds of cancer genomes), to measure the expression of every gene in the genome simultaneously on a single “gene chip,” and to assess the relative abundance of every RNA transcript, coding and noncoding (such as microRNAs) simultaneously through next generation sequencing (NGS) techniques was considered, if not science fiction, so far off in the future as to be unlikely to impact medicine in my career. Yet here I am, mid-career, and all of these are a reality. The cost of rapidly sequencing a genome has plummeted. Basically, the first human genome cost nearly $3 billion to sequence, while recent developments in sequencing technology have brought that cost down to the point where the “$1,000 genome” is within sight, if not already here, as illustrated in the graph above published by the National Human Genome Research Institute. Whether the “$1,000 genome” is truly here or not, the price is down to a few thousand dollars. Compare that to the cost of, for instance, the OncoType DX 21-gene assay for estrogen receptor-positive breast cancer, which costs nearly $4,000 and is paid for by insurance because its results can spare many women from even more expensive chemotherapy.

So, ready or not, genomic medicine is here, whether we know enough or not to interpret the results in individual patients and use it to benefit them, so much so that President Obama announced a $215 million plan for research in genomic mapping and precision medicine known as the Precision Medicine Initiative. Meanwhile, the deeply flawed yet popular 21st Century Cures bill, which passed the House of Representatives, bets heavily on genomic research and precision medicine. As I mentioned when I discussed the bill, it’s not so much the genomic medicine funding that is the major flaw in the bill but rather its underlying assumption that encouraging the FDA to decrease the burden of evidence to approve new drugs and devices will magically lead to an explosion in “21st century cures,” the same old antiregulatory wine in a slightly new bottle. Be that as it may, one way or the other, the federal government is poised to spend lots of money on precision medicine.

Because I’m a cancer doctor, and, if there’s one area in medicine in which precision medicine is being hyped the hardest, it’s hard for me not to think that the sea change that is going on in medicine really hit the national consciousness four years ago. That was when Walter Isaacson’s biography of Steve Jobs revealed that after his cancer had recurred as metastatic disease in 2010. Jobs had consulted with research teams at Stanford, Johns Hopkins, and the Broad Institute to have the genome of his cancer and normal tissue sequenced, one of the first twenty people in the world to have this information. At the time (2010-2011), each genome sequence cost $100,000, which Jobs could easily afford. Scientists and oncologists looked at this information and used it to choose various targeted therapies for Jobs throughout the remainder of his life, and Jobs met with all his doctors and researchers from the three institutions working on the DNA from his cancer at the Four Seasons Hotel in Palo Alto to discuss the genetic signatures found in Jobs’ cancer and how best to target them. Jobs’ case, as we now know, was a failure. However much Jobs’ team tried to stay one step ahead of his cancer, the cancer caught up and passed whatever they could do. (more…)

Posted in: Basic Science, Cancer, Clinical Trials, Science and the Media

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Precision Medicine: The Coolest Part of Medicine

QuellosOne size rarely fits all. Most medical knowledge is derived from studying groups of subjects, subjects who may be different in some way from the individual who walks into the doctor’s office. Basing medicine only on randomized controlled studies can lead to over-simplified “cookbook” medicine. A good clinician interprets study results and puts them into context, considering the whole patient and using clinical judgment to apply current scientific knowledge appropriately to the individual.

CAM practitioners claim to be providing individualized treatments. Homeopaths look up symptoms like “dreams of robbers,” “sensation of coldness in the heart,” and “chills between 9 and 11 AM” in their books, and naturopaths quiz patients in great depth about their habits and preferences; but they don’t have a plausible rationale for interpreting the information they gather. And they have not been able to demonstrate better patient outcomes from using that information.

A new concept, “precision medicine,” was recently featured in UW Medicine, the alumni magazine of my alma mater, the University of Washington School of Medicine. Precision medicine strives to provide truly individualized care based on good science. It identifies the individual variations in people that make a difference in our ability to diagnose and treat accurately. Peter Byers, MD, director of the new Center for Precision Diagnostics at the University of Washington, calls it “the coolest part of medicine.” (more…)

Posted in: Basic Science, Cancer, Diagnostic tests & procedures

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Cancer Treatment Centers of America: Revisiting the epitome of “integrative” cancer care

Three weeks ago, I mentioned in a post that the week of October 7 to 14 was declared by our very own United States Senate to be Naturopathic Medicine Week, which I declared unilaterally through my power as managing editor of Science-Based Medicine (for what that’s worth) to be Quackery Week. One wonders where the Senate found the time to consider and vote for S.Res.221, which reads:

S.Res.221 – A resolution designating the week of October 7 through October 13, 2013, as “Naturopathic Medicine Week” to recognize the value of naturopathic medicine in providing safe, effective, and affordable health care.

I know, I know, it probably took all of five minutes to consider and vote for this, thanks to Sen. Barbara Mikulski (D-MD), who sponsored it. In any case, as October 7 approached, I thought about how I could keep my promise to blog about naturopathy this week, and I came up with a way to do it. It’s a bit roundabout, but I think it fits. The idea derives from a discussion I was having a while back about one of my “favorite” hospitals, namely the Cancer Treatment Centers of America, in which a colleague of mine questioned why there were so many CTCA ads on NPR and why CTCA is sponsoring shows on PBS such as the upcoming The Emperor of All Maladies by Ken Burns. Although I can’t wait to see this particular series, I am a bit worried that the infiltration of quackademic medicine will make an appearance, given that CTCA is a major sponsor. (more…)

Posted in: Cancer, Homeopathy, Naturopathy

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