The New Open Paradigm
My first exposure to the concept of sharing personal medical information was a website called PatientsLikeMe. The purpose of this site is to give people diagnosed with life-changing diseases a forum to share medical information that potentially can improve the lives of others. The website creators plan to share this self-reported health information with doctors, pharmaceutical and medical device companies, and research organizations. The theory - as stated on the site - is that “openness is a good thing”. They continue with “when patients share real-world data, collaboration on a global scale becomes possible. New treatments become possible. Most importantly, change becomes possible”.
I was changed in my opinion of the benefits of "openness" as I read the very personal stories of people from around the world. One example was a mother with a young child from South Africa. Just when she thought life was going well, she was diagnosed with Parkinson’s disease. This mother publicly tracks treatments, medications, and supplements on the PatientsLikeMe website, and shares how effective they are. She also reports daily or weekly on symptoms like insomnia, anxiety, and even sexual dysfunction.
What is Research 2.0
I was already sold on the idea of sharing personal health information by the time I read that 23andMe consents all of its customers to participate in “a new kind of research that has the potential to produce valuable insights more quickly and less expensively than traditional methods". They call it Research 2.0, because "this new approach lets you initiate, advise and participate in research via the Internet".
Some of the major points I read in their research policies include:
1. 23andMe would not reveal my identity.
2. 23andMe would share the results of all research and show me how my contributions were making an impact.
3. The idea is to make possible large studies that would not be feasible using current methods.
4. The research will discover new genetic associations that could shed more light on my data, but without me expecting any financial benefit as a result of having my genetic data processed or shared with research partners, including commercial partners.
5. Nothing would be released to any outside company without my explicit consent.
6. 23andMe will continually update me about ongoing company sponsored research and let me know of other opportunities to get involved with research in genetics.
7. 23andMe intends to publish robust results of scientific studies that they conduct or that are conducted with their research partners.
Another high profile effort that is following this same philosophy is the Personal Genome Project (PGP), led by George M. Church, PhD, Professor of Genetics at Harvard Medical School. PGP is "building a framework for prototyping and evaluating personal genomics technology and practices at increasing scales". The major difference with 23andMe is that the PGP will do full genome sequencing (all of my DNA), as opposed to the 0.008 percent (or less than 1 in 10,000) of my DNA that 23andMe tests for. Of course, a $399 23andMe service is comparatively more affordable, whereas a full PGP genome scan costs in the tens of thousands of dollars, and is therefore subsidized for those who must complete a selection process.
Dr. Church did a great television interview describing his vision of Research 2.0 on the Charlie Rose program. The founders of 23andMe, Linda Avey and Ann Wojcicki, were also interviewed. As the cornerstone of their research, the Personal Genome Project is recruiting "individuals interested in obtaining and openly sharing their genome sequences, related health and physical information, and reporting their experiences as a participant of the project on an ongoing basis". I think I have the right gene for that. Sign me up!
Perspective from a medical geneticist
A New Research Model
For those of you anxious to dive into Grant’s DNA, please accept my sincere apologies for one more delay. I thought it important to spend some time (probably more than was needed) to explore some of the information and decisions prior to proceeding with testing. This will be the last hors d’oeuvres prior to the main course.
One of the intriguing aspects of the 23andMe service is the opportunity to participate in a variety of research endeavors—named 23andWe. This approach is called Research 2.0 by the company and could be fairly characterized as direct-to-consumer research. The idea is to collect not only DNA but information from 23andMe consumers using surveys and link the data. Currently there are 23 different surveys available on the site. Surveys are optional for participants.
Once again there is a marked contrast between this approach and the traditional medical research model I am familiar with. One of the most positive aspects relates to sharing research results. Many of my patients become upset when they learn that I am prohibited from returning research results directly to them because of federal research oversight regulations, and quite frankly I’m not too happy about it either. It doesn’t seem like the right thing to do. Given its funding, 23andWe is not subject to these restrictions and they state, “…we will share the results of all research and show you how your contributions are making an impact.”
This is an excellent way to engage and maintain involvement of their community. They also clearly outline the entire research process from proposal to publication. This pulls back the curtain on what is needed to conduct scientifically valid research—something that the general public usually doesn’t see. They also commit to keeping participants informed about the current status of the research project. Having enrolled many patients in a variety of research projects, I have certainly been frustrated by the apparent black hole that collects information and samples, yet returns nothing to my universe. This does not respect the sacrifice that our patients make to participate. Kudos to 23andMe for their commitment to information exchange.
In contrast, viewed through my pervasive paternalism there are some concerns as well. Many of these surround issues of privacy and information sharing that I discussed in the last post, so I will not reiterate those here. There are a couple of areas that do deserve additional comment.
That there is a need for oversight of human subjects research is an unfortunate legacy of unsound, unethical and in some cases heinous acts performed in the name of medical research. Names like Mengele, Tuskegee syphilis study and Unit 731 have resulted in national and international standards for conduct of human subjects’ research. In the US, the Office of Human Research Protection (OHRP) provides leadership in the protection of the rights, welfare and wellbeing of all subjects of research conducted or funded by the Department of Health and Human Services. OHRP and related organizations have promulgated rules and regulations that establish Institutional Review Boards, Privacy Boards, Patient Safety and Adverse Event committees to ensure as best as possible that research is conducted according to the highest scientific and ethical standards. Since they are privately funded, 23andWe is not subject to regulatory oversight for their research. There are some important differences in procedures that are worth highlighting.
Subjects entering a research project must give consent to participate. The process of giving this consent usually requires the subject to read a consent document in the subject’s primary language (or with the aid of a certified translator) and at an appropriate readability level. The document outlines the nature of the study, the subject’s involvement, potential benefits and harms, disposition of information and biologic samples, rights and researcher contact information. A member of the research team is present to answer any questions. These consents are specific to a given project--that is if a subject enrolls in more than one project, a separate consent is required for each. In the case of 23andWe it appears that if one submits a sample and completes surveys, this information is subsequently available to any and all research activity approved by 23andWe. In navigating through the different surveys, no information was provided with the individual survey regarding how the information was to be used. Other than choosing which surveys to fill out there doesn’t appear to be any way for a 23andWe participant to participate in some research projects and not others.
Conflict of Interest
Regulated research requires explicit disclosure of funding as well as declaration of any potential conflict of interest. 23andWe indicates that all research must be reviewed by 23andMe’s “…internal and external review committees…for scientific and ethical merit, as well as potential interest to the 23andMe community.” In reviewing the various ongoing research projects on the website I was unable to find any specific information about the composition of these committees, nor any disclosures. They do acknowledge in the Privacy Statement that they (23andMe) may receive compensation from these research partners. The information on the Parkinson disease study notes that 23andMe received funding from the Michael J. Fox Foundation for Parkinson’s Research. No other funding disclosures were identified.
Historically this issue was raised in the context of inducing individuals such as prisoners to engage in research with the promise of decreasing the length of their sentence. It has since expanded to include monetary compensation for subjects beyond covering expenses associated with the research and a modest honorarium. The ethical issue is to avoid tempting someone to participate in research that they would not otherwise choose. For most 23andWe participants this is not an issue, as they are actually paying to participate in that they have to purchase the test. However, in the case of the Parkinson’s disease study the cost of the 23andMe test is only $25 as opposed to $399 due to generous underwriting by Google co-founder Sergey Brin. I certainly can’t say if this would fall outside limits applying to regulated research, but it should be noted that those patients with Parkinson’s who participate will be participating in all 23andWe sponsored research, not just the Parkinson’s project as I could not find any information on the site limiting this participation.
This is a new research model, and it remains to be seen if the model will perform as envisioned. I look forward to seeing the methods and results of the research published and hope that this does increase the pace of discovery as hoped.
In her address to the Secretary’s Advisory Committee on Genetics, Health and Society, Katie Hood, the CEO of the Michael J. Fox Foundation for Parkinson’s Research (the largest private funder of Parkinson’s research in the world) in discussing the foundation’s partnership with 23andMe eloquently expressed the frustration of affected individuals with the slow pace of research, as well as the challenge of competing for limited research dollars. By using their resources to create research partnerships and offering these directly to affected members through services such as 23andMe, they hope to fulfill their mission of driving the best Parkinson’s research in order to discover improved therapies and a cure. I for one hope they succeed.
Read the next post - The Grand Opening - Looking Inside My Genetic Crystal Ball