This week, we’re continuing a series of guest blogs from our Mozilla Fellows for Science, with Jason Bobe, you can read more about Jason here on the 2015 fellows’ page, and read on to learn about his thoughts on open science, and challenges in genomics research. Reach out to him on twitter @jasonbobe, or read his blog here.
What is so special about Doug? A resident of Washington state, he has a genetic mutation that typically causes a fatal, early onset form of Alzheimer’s disease. This dreadful disease has killed more than a dozen of his family members over several generations, typically with symptoms appearing around 40 years old and death within 10 years [1]. Miraculously, Doug is now in his sixties and Alzheimers-free, despite carrying the genetic mutation that invariably affected his family members with the same DNA. Something exceptional is going on inside of Doug’s body that gives him a kind of immunity to Alzheimer’s. If we can understand this mechanism, we might be able to treat or prevent Alzheimer’s disease in other people too.
And we can use this general strategy for many diseases — not just Alzheimer’s.
Medical literature contains scattered reports of people like Doug who harbor serious risk factors that should lead to a catastrophic disease, but who never develop the disease. Historically, these cases have amounted to little more than intriguing footnotes because without the incredible advances over the past several decades in biomedical technologies and data analysis the task of “decoding” such individuals in order to discover the biological mechanisms underlying these rare cases of “resilience” was nearly impossible.
Decoding resilience to disease is a grand challenge whose time has finally come. Low-cost genome sequencing [2] coupled with new digital platforms [3,4,5] that facilitate large-scale health research means that engaging millions of people is now possible and so are opportunities to reveal rare traits like resilience to disease. With colleagues at Mount Sinai Health System’s Icahn Institute for Genomics and Multiscale Biology [6] and Sage BioNetworks [7], I’m helping to produce the Resilience Project, an initiative that aims to discover factors that protect people against disease through a systematic search for individuals that medical textbooks would indicate should have caused catastrophic illness but somehow these individuals are “resilient” – they have been protected by some yet-to-be-discovered genetic or environmental factors. Finding and studying these resilient individuals could generate insights that pave the way to new treatments or disease prevention strategies.
As with most thrilling new opportunities, we can anticipate a few major challenges ahead.
Participation Paradox
Discovering why some people are able to escape disease with the goal of preventing or curing disease in others is a compelling idea that many people are likely to rally around. It’s easy to imagine most of these same supporters might also take it one step further by volunteering to have their own DNA analyzed.
The truth is that the vast majority of people have never actively participated in an organized health research study. It’s a bit of a paradox, honestly, because people care about health [8] yet they rarely actively contribute to the very research that informs how we understand human biology and manage states of disease and well-being. Furthermore, medical doctors and nurses [9], and to an admittedly lesser extent scientists [10], consistently rank near the top in terms of most trustworthy professionals. So, while good will and trust are both necessary elements, they are insufficient to catalyze broad participation in biomedical research.
The Resilience Project has an opportunity to try to tap into something new and engage large numbers of people in what is likely to be their very first biomedical research study experience ever. The pressure is on to do a really great job because transformational changes in human health are far more likely to be realized when participation in biomedical research becomes part of everyday culture. We’ll never achieve these results unless we can refashion the biomedical research enterprise to be more in tune with the goals and values of prospective volunteers and more capable of making engagement in research something people actually want to do.
References
[1] Gina Kolata. New York Times. Dec 28, 2014.
[2] http://www.genome.gov/sequencingcosts/
[3] ResearchKit (Apple)
[4] ResearchStack (Android)
[5] And others, like Proof Pilot or Open Humans or Ginger.io
[6] http://icahn.mssm.edu/research/genomics
[7] http://sagebase.org/
[8] http://www.un.org/sustainabledevelopment/sustainable-development-goals/
[9] Gallup survey showing Medical Doctors and Nurses, among most trusted
[10] Scientists do not fare as well as medical professionals
