Today I joined All of Us, a research community of one million people to lead the way for individualized prevention, treatment, and care for, well, all of us. This project was previously known as the Precision Medicine Initiative.
Many of you know that our family has used whole genome sequencing to look for clues in our daughter’s autism. This blog shares that journey. I have also published peer-reviewed papers to explore the reasons why people share personal health information. Through this research, I am convinced that information sharing will contribute to a learning healthcare system to improve care and lower costs.
It just takes people like you and me to #JoinAllofUs and lead by example.
I have been a long-time listener to the intelligent and informative podcasts on Mendelspod, a site that connects people and ideas in life sciences. (Most nights you can find me listening to Mendelspod while I do the dishes.) I tuned-in sometime in 2012 and created a mental map of the industry by listening to every podcast I could find. A steady diet of listening to the latest developments in the industry has allowed me to talk about genomics with ease at meetups, tweetups and conferences. (OK, going back to school helped, too.) Somewhere along the way I decided that I would do something worthy of being interviewed on the show.
Hosted by the Mind First Foundation, this conference enabled participants in the Personal Genome Project to hear first-hand how their health data could be used in research, especially mental health research. The second day of the conference, the “PGPalooza,” let PGP participants directly interact with researchers to select projects of interest and have their questions answered immediately.
James Tao graciously edited this 25-minute video of my talk about family trio sequencing and autism:
Also, special thanks to Alex Hoekstra, co-founder of Mind First, for the invitation to this event.
Are some consumers willing to sell their personal health information? It looks like the answer is “yes.” This week, I presented a paper at the IEEE International Conference on Data Mining in Shenzhen, China. This paper summarized the results of an online survey about consumers’ willingness to share de-identified health information, and whether their attitudes would change if a financial reward was offered. Here’s the abstract:
To realize preventive and personalized medicine, large numbers of consumers must pool health information to create datasets that can be analyzed for wellness and disease trends. To date, consumers have been reluctant to share personal health information for a variety of reasons. To explore how financial rewards may influence data sharing, the concept of Markets of Data (MoDAT) is applied to health information. Results from a global online survey show that a previously uncovered group of consumers exists who are willing to sell their de-identified personal health information. Incorporating this information into existing health research databases has the potential to improve healthcare worldwide.
During the presentation, I argued that patient populations for both rare and common diseases can look similar, especially when looking at disease subtypes. When considering relatively common diseases such as diabetes, schizophrenia, and autism spectrum disorders, a single hospital in the U.S. will not see enough patients for a given disease subtype to make meaningful conclusions. On average, U.S.-based hospitals do not have enough patients to solve disease questions without sharing health information.
For this survey, a global panel of 400 participants was selected at random by AYTM, an online market research tool. Questions were based on a previous health information sharing survey, with additional questions about sharing with financial reward. I received 400 responses from 59 countries in less than two hours. U.S.-based respondents overwhelming believed that their health information was worth more than $1000, but the global average was around $250 when the U.S. was excluded. For these participants, both their motivation and the amount of data shared increased with financial reward. Keep in mind that these participants were paid to respond to the survey, so they represent a kind of self-selected group. Nevertheless, monetizing health information sharing produced a surprising result, demonstrating that an alternative source of health information may exist for research purposes.
In March 2014, my wife and I “got genomed” by enrolling in Illumina’s (now Genome Medical’s) Understand Your Genome (UYG) program. UYG requires participants to order this whole genome sequence (WGS) test from their physicians due to uncertainties surrounding the delivery of genomic results in the U.S. Illumina is careful to point out that the service “…has not been cleared or approved by the U.S. Food and Drug Administration” and “you will not receive medical results, or a diagnosis, or a recommendation for treatment.” Our family physician signed the request in November 2013, and we received our results in February. Fortunately, no surprises, but the UYG program only covers these Mendelian disorders for now. We flew to San Diego a few weeks later to listen to talks by genomic researchers and discuss our results with genetic counselors. As part of this one-day seminar, we each received an iPad Mini that was pre-loaded with our results, as well as a portable hard drive that contained our raw sequence data.
I received my WGS data on this encrypted hard drive (about 100GB).
After we arrived home, the next step was to find a public “home” for my sequence data (to share without restrictions). What I learned is that uploading your genome anywhere is a challenge, mostly because the dataset is so big.
Sharing personal health information is essential to create next generation healthcare services. To realize preventive and personalized medicine, large numbers of consumers must pool health information to create datasets that can be analyzed for wellness and disease trends. Incorporating this information will not only empower consumers, but also enable health systems to improve patient care. To date, consumers have been reluctant to share personal health information for a variety of reasons, but attitudes are shifting. Results from an online survey demonstrate a strong willingness to share health information for research purposes. Building on these results, the authors present a framework to increase health information sharing based on trust, motivation, community, and informed consent.
The take-home messages from the paper are:
Consumers are willing to share health data under the right conditions.
Education seems to play a strong role.
Consumers want to be connected to their data.
Develop models to encourage sharing.
My favorite part of the talk was explaining how I repeated the survey using an online market research tool. Our respondents were extremely educated — 59% had a Master’s level education or higher — so I wondered if education played a role in their willingness to share. In less than two hours, I posted the survey and received 100 responses (compared with the nine months it took to receive 128 IRB-consented responses). This time, about 20% of the respondents had a Master’s level education or higher, still higher than the US average of 10%, according to the US Census Bureau. Nevertheless, overall attitudes toward sharing were similar. In particular, respondents who were not willing to share their health information tended to have little or no college experience. Although both surveys operated on convenience samples, the results suggest that education plays a role, perhaps because education can change our perception of the risks and benefits associated with sharing health data. Interestingly, these results and conclusions were similar to those found in a recent report published by the Health Data Exploration project sponsored by the Robert Wood Johnson Foundation. More information about this project: