Risks of obtaining and sharing your genome sequence

The era of personal genomics will transform our notions of risk in many ways. In the realm of health and medicine, we will soon have much more specific information about our baseline risk for a health outcome, such as a disease or a pharmaceutical drug response, and how it is influenced by our DNA and modulated by other factors like physiology, lifestyle, and environment. At some point, we will have health risk profiles that prioritize and sort risks according to severity, immediacy, and whether effective strategies are available for managing them with pharmaceuticals, lifestyle modifications, or other medical interventions. There might even be a richter scale for genomics one day. This vision of the future is often referred to as “personalized medicine”.

Genome sequences are an important source of fuel for powering the engine of translational medicine and driving the transformation of how we understand and manage health risks. But before anyone can step on the accelerator toward personalized medicine, people need to be willing to actually obtain and share personal genome sequences. Without this willingness, personalized medicine faces an energy crisis – a shortage of genomic fuel – and may putter or stall. Where will this willingness come from?

Roadmap to Willingness
Unlike personalized medicine, which has a coterie of visionaries and an abundance of roadmaps, each with their own devotees, no “roadmap to willingness” exists as far as I can tell. So, how do we build one? What are the ingredients of a roadmap?

The same three ingredients are needed to get nearly any enterprise off the ground, as I heard recently in a wonderful talk by Doug Solomon of IDEO (here). They are feasibility, desirability, and viability. And you really need all three, having just one or two doesn’t cut it.

To get to willingness, personal genomics needs to be cheap (feasible), useful (desirable), and safe (viable). As far as I’m concerned, two out of three ingredients are in the bag. There are tremendously productive forces working to make genomes both cheap and useful. While personal genomics may not be fantastically cheap or fantastically useful at this moment, we’re on a clear path to get there (and quickly).

Google Chart API Venn diagram of the three ingredients for making personal genomics a smashing success
 

The ingredient that could use some serious inspiration is safety. After all, what should be sought is not a “roadmap to willingness” that is just blinky lights and siren songs, but a “roadmap for informed willingness” that includes well-marked signs, off-ramps, and rest areas (for slow drivers with small bladders).

Where the rubber meets the road
Some influential policy-wonks are still spending their energy questioning whether or not we *should* as a society be pursuing personal genomics at all. Then there are those who have gotten past that and take for granted, as they should, that large numbers of people will desire and seek personal genome sequencing. Yet, I still have the overwhelming sense that we are very much stuck in a stage of facile hand-wringing about the implications of obtaining and sharing personal genome sequences and that these activities tend to be more oriented toward sending people into some sort of existential apoplexy than they are a potential source of pragmatic guidance.

We are at the point in history where the rubber is about to meet the road for personal genome sequencing. So, I would like to advocate that we spend more time rounding out this roadmap. We should begin with a meditation about risk and consider the calculus an individual would need in order to weigh the tradeoffs between taking the personal genomics plunge right now or standing on the sidelines for another day.

The month of December I plan to focus my blogging efforts, nearing one blog post per day (assuming I’m not paralyzed by some existential crisis, fingers crossed), on my thoughts about the risks of obtaining and sharing personal genetic information. I hope you’ll join me.

P.S. The Venn diagram above was created on the fly via the recently released Google Chart API — an incredibly easy-to-use way to add graphic bling to any blog. Here is the coded URL, in case you want to play with the Venn Diagram on your own.

Comments

15 Responses to “Risks of obtaining and sharing your genome sequence”

  1. Blaine on December 6th, 2007 7:24 pm

    I’m really looking forward to this discussion. I agree 100% that the question is no longer ’should’ we do it, but ‘how’ will we do it.

  2. Steven Murphy MD on December 6th, 2007 9:26 pm

    Jason,
    Great post. We have to touch base again. I think this is a wonderful idea.
    -Steve
    http://www.thegenesherpa.blogspot.com

  3. Eric on December 6th, 2007 10:26 pm

    Good post, will be looking forward to it.

    Did you notice that one of the examples from the Google Charts API has a label of “50Kb”:

    Interesting. I would guess that Google is working on tools for 23andMe? ;)

    -=Eric
    http://SEQanswers.com

  4. Ricardo on December 6th, 2007 10:58 pm

    Hi Jason, great post. This is a great topic of discussion and I think that you’d be one of the best people to touch on this matter.
    I hope to participate and follow along your post-trail.

    PS: Fell in love with the google chart API the minute I saw it…

    @Eric: Kb doesn’t necessarily mean kilobases, could be bytes.

  5. JSinger on December 7th, 2007 12:45 pm

    I can’t imagine the number of people willing to give it a shot won’t far exceed the sequencing capacity to do it for at least another five years.

  6. NA on December 10th, 2007 9:22 pm

    I enjoyed reading your post. Before personalized medicine can become mainstream (it’s not there yet), our legal system needs to adopt laws that will help protect people from discrimination, companies selling DNA for profit (if a company sells a clients DNA it will be against the law), the regulations of what type of personalized information can be given out, and how technology should be used in the new information area of genomic medicine.

    In the case of genetic manipulation, we need to look past the playing God argument and the creation of build-a-baby and look at how this technology can help improve our life’s and strengthen our economy and life-span. True genomic medicine, which can include genetic manipulation, goes beyond learning what disease we are most likely to develop (and other risk data) and more into the area of societal change. Meaning, we could very well have the ability to empower ourselves as a species by increasing our brain capabilities and improve our quality of life. There are very few diseases that can be truly prevented even with knowing what risk factors we have for the development of a specific disease. However, prevention and informed decision making is still the better way to advance health care (with majority improvement needed in access to health care).

    What we need to do is more then just learn what our genomic information tells us. We need to know how to use this genomic information to improve our quality if life. This is not an easy task. For instance, depending on how severe a person has a disease (i.e., Down syndrome), a person can still live a fully functional life. In the case of Down syndrome, if parents know what risk they have of having a child with Down syndrome and the mother is found to be carrying a child with Down syndrome during her pregnancy, the family can make it a goal to get their child into a supportive educational setting (yes, a person with Down syndrome can succeed in a public school setting…depending on how severe the person has with Down syndrome).

    I think there are now 40 4-year universities and liberal art colleges that now accepted people with mental health issues into their universities.

  7. Misha Angrist on December 11th, 2007 7:12 am

    Thoughtful and insightful as usual. I would, however, add a fourth ingredient: comfortable shoes.

  8. Brian Van Ness on January 2nd, 2008 12:44 pm

    One gap in the commentary - education. We have to educate the physicians, the public, the insurance industry. With the promise comes a lot of garbage genetic screens. We need an understanding that some of the best genetic associations are still probability shifts, not exact predictions. Predicting disease risk is tough. Genetic risks require complex interplay with lifestyle, environment, ethnic backgrounds, and multiple genetic modifiers.
    Possibly the earliest applications will come from pharmacogenomics - predicting therapeutic responses. Drug metabolism is a tangible measure associated with genetic factors.
    Two critical needs: 1) trained and certified geneticists and genetic counselors; 2) biostatisticians.

  9. Trackbacks on July 23rd, 2014 12:47 pm

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