Posts Tagged NIH

“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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Is Francis Collins Bringing Sexy Back To Science?


Rudy Tanzi, Joe Perry, Francis Collins

I know. I was just as surprised as you are. Dr. Francis Collins, former director of the Human Genome Project, author of The Language Of God, and new director of the National Institutes of Health performed live in front of a group of Washington locals at the Capitol building today. He actually jammed with Aerosmith’s Joe Perry in an “unplugged” performance of Bob Dylan’s, “The Times They Are A Changin’.” This is not the kind of thing one expects in the hallowed halls of the Capitol building. But maybe it’s time to expect the unexpected?

I’ve spent some time on this blog wondering about the difference between being “right” and being “influential” – and how to combat the Jenny McCarthyism that is misleading Americans about their health. I’ve argued that we need to find a way to rekindle the public’s interest in good science, and learn to speak to folks in a way that is captivating and respectful. I guess that some of our peers are engaged in a rebranding of science.

Posted in: Science and the Media

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Could Francis Collins’ Faith Create Conflicts For His Potential Directorship of NIH?

Francis Collins, M.D., Ph.D., is probably best known for his leadership of the Human Genome Project, though his discoveries of the Cystic Fibrosis, Huntington’s, and Neurofibromatosis genes are also extraordinary accomplishments. Dr. Collins is a world-renowned scientist and geneticist, and also a committed Christian. In his recent best-selling book, The Language Of God, Dr. Collins attempts to harmonize his commitment to both science and religion.

Some critics (such as Richard Dawkins) have expressed reservations about Dr. Collins’ faith, wondering if it might cloud his scientific judgment. Since Collins is rumored to be the most likely candidate for directorship of the NIH, and because I wanted to know if Dawkins et al. had any reason for concern, I decided to read The Language Of God.

First of all, Christians are a rather heterogeneous group – with a range of viewpoints on evolution, science, and the interpretation of Biblical texts. On one extreme there are Christians (often referred to as “young earth creationists” or simply “creationists”) who believe in an absolutely literal interpretation of the Genesis story, and see evolution as antithetical to true faith. Dr. Collins suggests that as many as 45% of Christians may actually be in this camp.

Posted in: Basic Science, Book & movie reviews, Evolution

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