October 22, 2013 - Self-funded research was the most common type of science until the mid-1900s. Even recently, nobelists Peter Mitchell and Luis Leloir, as well as Stephen Wolfram, Aubrey de Grey, James Lovelock and many others have funded their own cutting-edge research.
Historically, astronomy, archeology, botany and genealogy are the most popular amateur sciences, making these fields the primary beneficiaries of this self-funded research. Today, the newest focus for citizen science involves exploring the personal genome (including the microorganisms living on our skin and in our digestive system).
We, as citizens, know more than the experts about one field in particular – ourselves. We know our family history, our diet, and our idiosyncrasies. Without our input, medical experts don’t know these unique details of an individual. But that may change.
The progress in genomic sequencing may now inspire a personal genomics revolution.
Since Human Genome Project was completed in 2003, new projects have made personal genomics accurate, accessible, interpretable, useful, safe and even shareable (for all 6 billion of our A, C, G, and T bases – the building blocks of DNA).
The value of accuracy and acessibility
We each have variations in our DNA that make us unique. The rarest of these are most likely to have the most significant impact. Today, genomic sequencing returns less than one error in 10 million bases. This gives us the ability to identify DNA changes which are individually rare but collectively common.
The cost of sequencing a person’s entire genome has dropped from over $3 billion to less than $1,000 per person.
The cost of sequencing a person’s entire genome has dropped from over $3 billion to less than $1,000 per person (wholesale). This price drop has happened so fast that many people have yet to hear of it. Today, citizen scientists may choose to analyze their genomes outside of the medical system – just as they do for other home health tests such as for certain infections.
Beyond data points
"Interpretable" and "useful" means that the results of sequencing could lead to life-saving decision-making, and not just for ancestry and eye color (which have their uses and fans). For example, there are hundreds of genetic variations like Tay-Sachs, cystic fibrosis or blood hemoglobin diseases, which result in much shorter life expectancies, ranging from 4 to 45 years.
These currently “incurable” diseases may one day become preventable. At minimum, they are able to provide people with new insight and inform decision-making. For example, pre-conception genetic counseling and highly predictive cancer-causing DNA variations can suggest preventative surgeries to remove tissue in advance of symptoms. We are all at some risk for hundreds of predictive and actionable diseases. Genetic testing is increasingly able to identify our actual, and actionable, risks.
Protecting individual rights
Thanks to the Genetic Information Nondiscrimination Act (GINA) of 2008, citizens are granted protection from discriminatory health insurers and employers. It does not, however, apply to disability, life or long-term-care insurance, or the military.
Before we get our genome sequenced, we can and should learn about what we might find out and determine what we want to know.
But safe can also mean protection from learning too much about ourselves. Before anyone pursues genomic sequencing, he or she should educate themselves about what they might learn and how they might use that information. Then they should decide what they want to know. We generally want to focus on the medically actionable parts. Once we learn something about ourselves the knowledge is irrevocable, but what we can do about it does change.
Some people may only be interested in results where action can be taken to prevent health problems, but others - with a bit of citizen scientist in us - may choose to see it all. For those who science is a profession, we need to advocate for the citizen scientist, so we can provide guidance and promote safeguards in this new and exciting field.
It’s a social world, even for DNA
Citizen scientists now have the ability to share their genomic, environmental and trait data with each other and scientists around the world. Many already share their information with the Personal Genome Project to try to improve our understanding of human health.
With new safeguards in place, the concept of sharing is spreading. The Personal Genome Project now supports others at the FDA, the National Institute of Standards and Technology (NIST), and the National Institutes of Health (NIH) Encyclopedia Of DNA Elements (ENCODE). PersonalGenomes.org is exploring other avenues of citizen science, including wearable physiological monitors, DNA sequencing of the human microbiome, as well as personal stem cell testing.
The future of citizen science is exciting, and there are virtually no boundaries for its possibilities. Interested?