We have surely entered the age of citizen science! Take, for example, my father’s reaction thirty years ago to a family history of colon cancer. He wholly cut out red meat, began taking vitamins, and started exercising daily. Melanie Swan’s reaction to the same issue, thirty years later, goes far beyond such standard health advice. She looked at her genes to first determine her risk factors, then appropriately and proactively made even more changes to her lifestyle.
Melanie is a prime example of someone utilizing growing genomics research to learn about herself. Taking it a step further, she harnessed the power of social networks to crowd-source a clinical trial in genomics. This new method gives individuals a chance to contribute to the research, and if done correctly, can create robust results without a backlog of effort from a single researcher or team. From out of this work, she founded the citizen science genomic research organization DIYgenomics.
To learn more about Melanie’s pioneering citizen science work, here’s a brief interview I conducted with her:
Eri Gentry: How did you get involved in genomic research?
Melanie Swan: I got involved because I have a family history of colon cancer and was interested in knowing my own genetic susceptibility to the condition. I was relieved to find out that my susceptibility is normal, and I became motivated to pro-actively manage environmental risks to the extent that I can.
EG: What exactly is DIYgenomics?
MS: DIYgenomics is an individual accessing, reviewing, and understanding his or her own personal genomic data, possibly for the purpose of how it relates to current physical state and intervention.
EG: DIYgenomics is utilizing crowd-sourced research. How is this different from typical clinical trials?
MS: The crowd-sourced research DIYgenomics is conducting is structured in the same way as traditional clinical trials. The important difference is that results may be interpreted at the usual aggregate level and also at the individual level. Individuals can self-experiment and find the precise interventions that work for them directly, not for people on average.
EG: What have you learned by using a participative approach to research?
MS: I have learned two main things. First, how much variation is possible for the same measurements in the same person and in different people, leading me to believe that “on average” medicine just cannot possibly be the optimal solution for individuals. Second, I’ve seen how fun and informative it is to do research in peer cohorts.
EG: Do you anticipate continuing to crowd-source research data?
MS: I think the era of crowd-sourced research is just beginning and it will only become easier for individuals to have automated tools for quantified health self-tracking, experimentation, and optimization. Patient-shared data in biobanks could become a significant public health resource. Meetup groups and garage biology experiments could form around any condition or interest area ranging from rare genetic disease to athletic performance.
EG: What are the most promising research areas for DIYgenomics?
MS: One of the biggest opportunities is to immediately apply newly published research. For example, the same day that a contentious Boston University aging study1 was published, we offered the ability for any interested individual to check their own signature for exceptional longevity at the DIYgenomics website.
EG: DNA research is getting quicker and cheaper but whole genome sequencing is still out-of-reach for the average person. Will sequencing get to the point where it is affordable by average consumers (people like me)?
MS: Right now, genotyping services are available to consumers for $429-$2,000 from 23andme, Navigenics, and deCODEme, and cover 600,000 – 1 million data points, including many of the ancestry, health risk, carrier status, and drug response conditions currently supported by scientific research. The least expensive whole human genome sequencing offering (3 billion data points) is currently $20,000 ($9,500 for medically-relevant sequencing) from Illumina, down from $48,000 last year. Prices have been dropping, accommodating both early adopters who wish to obtain their data now and others who wish to wait a few years to see how prices fall. One of the biggest challenges ahead is in developing automated tools for the interpretation of whole human genomes.
EG: What is your long-term vision for DIYgenomics?
MS: Our long-term vision is to allow individuals to do real-time preventive medicine. Rather than being diagnosed with diabetes, heart disease, or other conditions in twenty years or more, individuals can use an increasingly available array of monitoring tools to self-manage wellness, including the integration of health data streams (genomic data, physical biomarker data, environmental data, microbiome data, etc.) to create pro-active responses.
EG: What excites you most about your work? About participative medicine?
MS: I find the the aspect of empowerment most exciting. Individuals are finally starting to have the tools they need for automated, personalized health self-management. Health privacy laws and academic incentive systems make it impossible to access data gathered in traditional studies. However, individuals that are willing to open-source their own data in web-based biobanks help to create a much-needed resource for testing the complicated permutations of disease causality and intervention.
EG: Are you involved in other interesting projects?
MS: DIYgenomics is now expanding into the second phase of our MTHFR study, looking at vitamin B absorption and two mutations in the MTHFR gene which may lead to higher homocysteine levels, and trying different interventions to reduce homocysteine. We also have an aging study [PDF link] in design, looking at the top ten genomic markers for aging, their corresponding physical biomarkers, and potential interventions.
EG: How can people get in touch with you? Are you looking for help/collaborations from people?
MS: Anyone interested in genomics is welcome to visit our website, investigate our web and mobile apps, and participate in or design a study. I can be contacted at Melanie@DIYgenomics.org.
EG: Anything MAKE readers should know that we haven’t covered?
MD: One of the biggest barriers to individual health self-experimentation is measurement. Most blood tests are doctor-ordered and lab-provided, and cost about $100 per test. There is a significant opportunity to develop finger-stick tests for home/garage biolab use to self-measure 10-100 blood-based markers such as LDL cholesterol, homocysteine, vitamin B levels, thyroid function, creatinine, cortisol, hormones, etc.
1Sebastiani, P. et al. Genetic Signatures of Exceptional Longevity in Humans. Science. 2010 Jul 21.
Bio: Eri Gentry is a biotech entrepreneur, citizen science community organizer, and the co-founder of BioCurious, the first hackerspace for biotech, in the San Francisco Bay Area.