Up at 5AM: The 5AM Solutions Blog

The Bubble, Genetics Exceptionalism and How Genomics Needs to Get Out More

Posted on Thu, Feb 17, 2011 @ 01:19 PM

Last Friday I attended a symposium at the NIH in Bethesda, Maryland (USA) that commemorated the 10 year anniversary of the draft publication of the human genome. It was a great event from start to finish with a strong lineup of speakers (and which is now available on-line). I'll summarize some of them at the end of this post (and be sure to check out the twitter traffic, too), but the last two talks were the ones that hit me the hardest.
The first was Amy Harmon from the New York Times. She started off with 10 minutes of self-deprecation about how this was her first powerpoint presentation and how she was the only speaker on the agenda with no advanced academic degree (this was not quite true, at least one of the personal genomics panel members was a lay-person, too). She has been writing articles about people who've been directly affected by genetics tests, including a woman who had prophylactic mastectomy because of a positive BRCA1 test result and another woman who had a positive genetic test for Huntington's disease, for which there is no cure. Harmon's main plea was that she didn't think scientists spent enough time communicating their results to the general public. She gave examples of not easily being able to get in touch with scientists because they were overly focused on their research and publishing in scientific journals.
She also gave a somewhat scathing take on pay-to-read scientific journals, including showing this article which, somewhat comically, requires a subscription to read. She said it was frustrating that taxpayers could not read the fruits of their scientific funding without paying again for the privilege. Now I take her example article as pretty indefensible (given that it was an article about making data available that could only be read with a paid subscription), but to be fair to the NIH and other funding agencies, I do believe that PubMed Central is set up to be a repository of free articles and is intended to be a place where government-funded research publications are available for free, although I'm pretty sure not all NIH-funded research is available there yet. But that aside, her statements about lack of communication between scientists and the public did give me a little pause.
Her talk did set the stage nicely for the last talk of the day, by Maynard Olson. He began by talking about how during the Human Genome Project the genome came to be seen as a concrete thing to focus those efforts on, as opposed to the rest of biology, which is more complex and nuanced. But now, due in part to the ability to look at many, many genomes using new technologies, he claimed that it was now looking more and more like the rest of biology. This makes sense given what we now know about the complexity of human DNA variation and the myriad of things encoded in our DNA other than protein-coding genes. And the prevailing view that genome data is only part of a much more complicated picture that includes transcripts, proteins and metabolites, among others. He referred to breaking out of a 'bubble' of simplicity to begin to incorporate all this information into a whole.
But there's even more to it than that. He put up a slide with an article title that referred to 'Genetic Exceptionalism'. Now I have to admit I'd never heard this phrase before, or at least had not internalized what it meant. It refers to the view the genetic data is somehow fundamentally different than any other kind of health and medical data. For instance, consider if your genotype data somehow differs from your blood pressure, your family history of disease, your diet, or how much time you spent in the sun as a child. There are plenty of opinions on this concept and I don't want to spend too much time on it here. I guess my first reaction is that a big difference between genetic data and most other kinds of medical and health data is that genetics can be used to uniquely identify individuals. But in most other ways it really is no different, and I guess you could argue that with enough medical record and personal data you could easily identify people, too. I think his point was that the field of genomics has been suffering from this attitude by looking inward at genomic data and not outward to try to integrate it with other biomedical data. Clearly there are efforts to try to do this but they are really just getting started.
Companies like 23andMe are clearly being exceptionalist in that they only report genetic data. To understand how silly this is, think about how they give you a lifetime relative risk for lung cancer when they don't even know whether you are a smoker or not. In fact, the NHGRI itself is similarly exceptionalist; why not make genetic research part each disease-focused institute? This clearly is happening to some extent, especially in cancer, but I do wonder how long the NHGRI can be realistically seen as a viable independent entity.
He closed with a call for a 'new message' to move the field forward and talked about a more integrated message that included genome data in its rightful place in the larger collection of biomedical data. But he also circled back to Amy Harmon's point that this message needs to be not just directed at scientists and physicians, but at the general public.
I think this is critical, too. In an earlier post I talked about my 23andMe results. Since then I have mentioned it to 3 different physicians and none of them had ever heard of 23andMe. I was at a Biotechnology Meetup last week with about 20 people from the local biotech community, and nobody there, except a colleague of mine, was a 23andMe customer. I think it's very easy for me, since I've been in this field for over 15 years, to forget that the vast majority of the public doesn't really know very much about genetics, and what they do know might well be skewed or downright incorrect.
Harmon and Olson were making the point that this is a serious issue and that outreach from the scientific community is an obvious way to improve the situation. I think the risk is that patients, doctors, lawmakers, venture capitalists and regulators, among others, with incomplete knowledge of genomics will overwhelm an educated and well-intentioned scientific community. If that happens, effective laws and funding could suffer.
My small part in this is to offer myself as a speaker or educator to anyone who wants to know more about how genomics is being used in medicine. I'd be happy to talk to 3rd graders, seniors, or anyone else in between. I can show people my 23andMe results, talk about what a genome-wide association study is, and explain the structure of DNA. I'll be happy to go anywhere, although if it's outside of the Washington, DC (USA) area, you'll have to be realistic about scheduling and feasibility. I can be reached at wfitzhugh@5amsolutions.com.
There was also a lot more interesting stuff earlier in the day. Eric Green, the director the National Human Genome Research Institute (NHGRI), and NIH Director Francis Collins started things off with talks about the past 10 years and the future of genomic research. Eric Lander followed with his usual passionate and articulate genomics summary talk, looking backward and to the future. Other speakers included Sean Eddy, Rick Lifton, and a panel discussion of personal genomics that included James Watson and Misha Angrist.
Since I worked on the draft of the human genome it was a great time to remember all that hard work and the payoff. I do think that the role of Celera in lighting a fire under the public Human Genome Project might have been acknowledged, at least in passing, but that is a minor quibble.
The entire symposium was videocast on the web and, as I said, is now available as a recording. On an self-centered note, 5AM Solutions' SNPTipstool got a shout-out by Sharon Terry of the Genetic Alliance (238:30 in the video) and I asked the panel a question about where personal genomic data will be stored in the future (256:00). The answer was, lots of places, and with there soon to be lots more genome data out there, this clearly needs to be addressed. But that's another blog post.


Diagnostic Tests on the Map of Biomedicine


Download the ebook based on our popular blog series. This free, 50+ page edition features updated, expanded posts and redesigned, easier-to-read maps. 

FREE Biobanking Ebook

Biobanking Free Ebook
Get this 29 page PDF document on how data science can be used to advance biorepositories.

 Free NGS Whitepaper

NGS White Paper for Molecular Diagnostics

Learn about the applications, opportunities and challenges in this updated free white paper. 

Recent Posts