Meeting Your Quantified Self—FMU Blog for October 2013

 

Dr. Michael Snyder likes to talk about a movie called Gattaca. Released back in 1997, he doesn’t talk about Gattaca because it won awards or because it is a must-see film for fans of sci-fi; he talks about it because it is a movie about genes, and more specifically about genetic testing. As Director of the Stanford Center for Genomics and Personalized Medicine at Stanford University, genetic testing is mostly what Dr. Snyder talks about all the time, and recently he talked with me about his work in a phone interview for my audio journal, Functional Medicine Update.

In his Palo Alto laboratory, Dr. Snyder is doing research worthy of a sci-fi movie. He is changing the knowledge base, pushing our understanding of disease prevalence and ways to modify disease expression at the genomic level. He’s a chemist by training who did his PhD work at Cal Tech in the Department of Biology, and then went on to spend 24 years teaching at Yale before coming to Stanford in 2009. Dr. Snyder is immersed in the study of “omics”: genomics, proteomics, metabolomics, transcriptomics. In short, Dr. Snyder is studying the quantified human; that is, not only the DNA sequence of an individual, but also over 40,000 data points from that individual that can be gathered and analyzed from RNA, proteins, metabolites, and the microbiome over time. He calls the project iPOP, or the integrative personal omics profile.

On a day in 2012, Dr. Snyder stepped onto a stage in a meeting room at Stanford to give a presentation about his research to alumni and other members of the public. In truth, this was a sparsely attended gathering, but no matter and in some ways easier. Easier to see a show of hands, anyway. Dr. Snyder asked how many in the audience were interested in getting their genome sequenced, and he counted up the response. He then asked how many were not interested in this information. Again he counted. This audience turned out to be pretty average. Dr. Snyder says that usually it is a 50-50 split between people who don’t want to know and people who do. The reasons on both sides also tend to run along standard lines. Among those who do want the information, they are interested to know if they are likely to get a disease, if they have sensitivities to medications, or they may just be curious. Among those who don’t want to know, the reasons include not wanting to know about disease risk, finding the science to be too complex, and a concern about genetic privacy.

But Dr. Snyder is, first and foremost, a scientist. He is someone who wants to know as much as possible about as much as possible: “We wanted to know if genome sequencing could be valuable for healthy people.” The sequencing of an individual’s genome is a topic that has taken center stage in the last few years, with most of the new interest coming from the general public. While the Human Genome Project has been marking research milestones and generating data closely followed by the scientific community since its initiation in 1990, the idea and practice of personal genome sequencing has come to the fore only recently, most notably due to low-cost home testing kits available through companies like WellnessFX, Pathway Genomics, and 23andMe, as well as through media attention surrounding the compelling story of celebrity Angelina Jolie, who earlier this year shared the story of her decision to undergo a preventive double mastectomy at the age of 37 after genetic analysis determined her risk of breast and ovarian cancer to be very high (87% and 50%, respectively).

There are presently different levels of genome testing. These include:

  • – Clinical grade
  • – Research grade
  • – Personal

As Dr. Snyder says, “It’s not about can I get my genome sequenced. It’s about do I want to get my genome sequenced.” Getting a DNA sequence is relatively inexpensive; getting it interpreted is a different matter. According to Dr. Snyder, it takes about 200 person hours to clinically annotate a genome—at a cost of about $15,000 to $20,000. What promise does genetic testing come with? No promises, actually. But right now—for those who want to know—testing provides insight into understanding disease risk, which also provides the individual with the opportunity to modify disease risk through lifestyle practices. Testing also is helpful in understanding pharmacogenomics; that is, predicting drug response or dose effect.

In Dr. Snyder’s lab, the focus has been on research grade testing. He explains its level of sensitivity this way, “23andMe, they look at a million changes in your genome. We’re looking at six billion.” And the subject of the iPOP study? Dr. Snyder himself. He says, “We picked somebody who would give lots of material and I knew wouldn’t sue me. Me.” The data is both diverse and complex. And revealing. Not only has Dr. Snyder learned unanticipated things about his health risks, he has witnessed his risk for type 2 diabetes evolve into an actual diagnosis in near real time.

Dr. Snyder’s story, still only half told as the trial continues, is fascinating. “An IMAX view,” is how he describes it. The implications of his work will be important in many areas of medicine, but he predicts it will translate most quickly into two fields: cancer and diabetes. Both conditions are not single diseases. Rather, each is an amalgam of multiple genetic and environmental factors resulting in dysfunction. Just like in a sci-fi movie, Dr. Snyder invites people to consider the possibility of an alternate reality:

“Imagine a world where there are millions of genome sequences with millions of health records with millions of treatments that will completely transform medicine. I think this is where we are going.”

I agree, and I’m looking forward to the ride.

 

My interview with Dr. Michael Snyder is available through an all-access Functional Medicine Update subscription. He is the latest in a long line of clinicians and researchers I have had the good fortune to talk with. Learn more about subscribing to FMU here. All revenue from Functional Medicine Update is donated to support the Personalized Lifestyle Medicine Institute, a nonprofit organization.

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