The Risks and Benefits of Making Genome Data Open and Free

The Globe and Mail kicked off a series,  Our Time to Lead exploring the social implications of genome research in Canada.  Researcher, Dr. Stephen Scherer at Toronto’s Hospital for Sick Children is a champion of Canada’s involvement in the Personal Genome Project (PGP) and for making massive amounts of genome data open and free.

This controversial project has a plethora of risks (over three pages of identified risks, discomforts and harms in the consent form) for potential participants and one identified benefit “Participation in the project will likely provide a unique educational experience for participants”.  The risks range from the stress associated with learning that you have an increased genetic risk for a specific illness  to the risk of someone producing a synthetic copy of your DNA and planting it at a crime scene.  Add to the risks the fact that the analysis of the genome is not guaranteed accurate “The PGP cannot make any guarantees about the accuracy or completeness of any such analysis” and the fact that it will cost you minimum $4,000 (if you live in Toronto) to ensure your successful application will go forward, you have to wonder why anyone would consent to participating.

Yet I am considering it.  This blog is dedicated to advocating for control of personal health information and the genome holds great potential for individuals who want to manage their health, but it is early days for the practical utilization of genome data.  The PGP will advance the practical applications for health care consumers and I applaud that.  In an earlier blog,  My Quantifiable Self I featured John Wilbanks and his work on Pooling our Medical Data.  In his TED talk he speaks to accessing his genome through 23 and Me, a private genome mapping company in California and how he crowd sourced his genome to learn even more through international genome researchers and analysts.  His activities with his genome were very similar to what PGP is proposing.  John is a genome adventurer, I have a lower tolerance to risk.

Here is my dominant issue with participating.  To the best of my knowledge (and I am not a health care provider or scientist) most diseases and illnesses are believed to be caused by both genetic and modifiable risk factors.  Take Alzheimer’s as an example of a disease that has been linked to a specific genetic marker.  In a quick scan of Alzheimers Disease Facts and Figures 2012 published by the Alzheimer’s Association, the genetic risk factor is clearly identified but there are other factors that may contribute to the disease including cardiovascular disease and the modifiable risk factors associated with it (physical inactivity, smoking, poor eating habits). 

If I discovered through genome mapping that I had an increased risk of Alzheimer’s disease I would welcome the opportunity to have my personal health information included in a study that mapped my genetic risk for the disease against the other risk factors in my life.   I would want the legacy of my genome donation to inform future research that links an increased genetic pre-disposition to the disease, to modifiable risk factors.  Unfortunately, as it seems to be structured now, the PGP doesn't allow for that.  While the PGP does require your personal health record and completed medical history, it only includes a point in time picture of your health, not a continual record of health. 

The awareness of increased risk for Alzheimers would inspire me to make changes in my lifestyle, that activity will not be recorded in the data contributed to PGP and therefore will not be measured against my future risk for the disease.  I would want research to show that by managing my health better, I was able to mitigate my risk and beat the odds.  PGP doesn’t allow for that.

If we focus on the genetic in isolation of behavioural and environmental factors, we lose a tremendous opportunity. Why don't we create a genome portal for Canadian’s?  A portal would contain the genetic data of all participants and the managers of the portal would be the conduit between qualified international researchers and our data.  International researchers could identify potential participants and contact them via the portal.  I would much prefer to be provided with opportunities to participate in studies that have been screened by the PGP, studies that my genome and personal health information could provide valuable contributions to rather than putting my entire genome data online with my health history.

As an individual considering my participation in such a study and as an advocate for personally controlled health information, I’m not yet convinced the benefits of my participation in PGP outweigh the risks, but I will continue to watch this important project and perhaps, one day, add my genome for consideration.