I’m happy to announce the publication of our paper “Harvard Personal Genome Project: lessons from participatory research” in Genome Medicine, a general retrospective of the current Harvard Personal Genome Project. There is growing interest in participatory research and data sharing (with either participants or researchers), and the Harvard PGP has concrete experience relevant to these conversations. In this paper we share our experiences with the hope of encouraging and assisting others interested in similar research models.
In the rest of the post I’ll give some personal summary, written colloquially. Although many observations seem obvious or trivial, remember that hindsight is 20/20! This wasn’t always what people expected, and that’s why it’s important to share our experiences.
What happens when your project gives participants data access?
One thing that doesn’t happen (at least, not yet): the sky doesn’t fall. Our report explores this question in the form of quantifying the communications we receive from participants. Only one in ten participants that received access to whole genome data through the PGP followed up with us asking any questions about that data – and the majority of those questions were regarding file formats and additional files, not interpretation.1 For a project whose public image is “Personal Genomes!” (and whose participants are extremely engaged and interested in genomes), I think this is a very modest amount of “customer support”. This should be reassuring to any project considering providing genetic data access to its participants.
One thing that does happen: when you tell participants you plan to give them data, they wonder where the data is. Over a quarter of our communications are from participants eager to be sampled and receive data. Research timelines are slow. Sometimes analyses fail. It’s really hard to tell someone “Your sample from 14 months ago is still sitting in the freezer”.2 Participants are used to medical tests and commercial products which return results in days or weeks. But those tests are fast because commercial/clinical providers have developed standard, polished processes. Researchers have a much fuzzier idea of where they’re going – that’s why it’s research! – and things almost never go as smoothly as the researcher imagines they will.3
Unexpected positive consequences of public participatory research
What happens when you have a public project and don’t promise anonymity? Participants talk to each other! They create forums, they write books, they report on their experiences. They can even complain about you – a powerful empowerment of participants.
But researchers, don’t shy away from this scary new world where participants become people. There are some significant benefits for your work when participants become part of your community. An engaged cohort wants to be studied! They go out of their way to give you samples. They give you data. They find errors. They perform follow-up investigations and tell you what happened. You get participants who don’t merely expect you to study them, they study themselves.
1: Regarding that interpretation – our interpretation process is semi-automatic and creates fairly limited, highly technical summaries (these genome reports are publicly shared on GET-Evidence).
2: Part of why it’s hard is because the answers are often embarrassing, e.g. “Alexandra started that project, but she moved to Tokyo and nobody can read her notes”. (This is hypothetical! I think the Harvard PGP has done much better than this! But it’s not an unusual story.)
3: Researchers are also generally optimistic about timelines. If the researcher says it should take two weeks, expect it to take six. Maybe ten. If you think about it, it’s just human nature – to want to do the research in the first place, the researcher must be excited and optimistic about it!
Quick note: Tomorrow Jeantine Lunshof, Barbara Prainsack, and John Wilbanks will have a live chat (“Do You Have a Right to Your Personal Data?”) hosted by Science’s senior commentary editor, Brad Wible. You can join them at 3pm EST tomorrow for a live chat. (You can also leave comments or questions on that page, ahead of the chat.) Also, if you haven’t seen it already, their Science policy piece is publicly accessible (“Raw Personal Data: Providing Access”, by Lunshof, Church, and Prainsack).
I’m thrilled to report the publication in Science today of “Raw Personal Data: Providing Access“, a Policy Forum opinion piece by Jeantine Lunshof, George Church, and Barbara Prainsack. As the ethics advisor to the Personal Genome Project, Jeantine, along with George, has pioneered our “open consent” model for public data sharing. With this piece, Lunshof et al. address the topic of sharing data with participants themselves. They advocate that participants deserve access to raw data in any research and clinical setting, to establish fairness and reciprocity in research and any other context where data are handed over.
This vision is very much in line with the Personal Genome Project’s work since 2005, and more recently with our public comments on the NIH draft Genomic Data Sharing Policy last November and our recently funded Open Humans Network. Data relevant to understanding human health and biology is often very personal, very identifiable, and – as a result – difficult to share. Participant-mediated data sharing is a way to enable open human data.
As Lunshof, Church, and Prainsack point out, modern information technology should facilitate data sharing with participants. It is understandable that such a model has been impractical in the past, but the technology is now ready. To make it a reality, we need to see our expectations change regarding how research studies should operate.
Lunshof et al. make a careful distinction between “access to data” and “return of findings” – the first is the raw research data alone, while the latter involves interpretation of that data (a process sometimes requiring instrument certification or clinical expertise). Their piece challenges researchers to treat access to raw research data as a separate issue from its interpretation; they call for researchers to grant raw data access and thereby promote participant agency, establishing a more fair and reciprocal relationship.
We at PersonalGenomes.org are thrilled to announce that our Open Humans Network was awarded a $500,000 grant from the Knight News Challenge: Health. The winners were announced at the Clinton Foundation Health Matters Conference on January 14, 2014 in La Quinta, CA.
The John S. and James L. Knight Foundation is the leading funder of journalism and media innovation. It has been seeking the next generation of innovations to inform and engage communities.
With its Knight News Challenge: Health, the Knight Foundation is funding breakthrough ideas that harness data and information for the health of communities. The five-stage competition began in August 2013 with an “Inspiration Phase” during which anyone could post needs, interests, and ideas online at its website, and continued with the submission of 630 health and data news projects, all competing for a share of $2.2 million in funding and support. After a feedback stage, 39 semi-finalists – the Open Humans Network among them—were invited to refine their projects and submit videos prior to judging. Seven winners were awarded grants.
The Open Humans Network, led by myself and Madeleine Ball of PersonalGenomes.org, attempts to break down health data silos through an online portal that will connect participants willing to share data about themselves publicly with researchers who are interested in using that public data and contributing their analyses and insight to it. The portal will showcase public health data and facilitate its exploration and download. The Open Humans Network ultimately hopes to revolutionize research by making it easy for anyone to participate in research projects and facilitating highly integrated, longitudinal health data. This portal will consist of three components: individual data profile pages, a public data explorer and a set of design guidelines for researchers seeking a collaborative data-sharing model.
The Open Humans Network grows out of the Personal Genome Project (PGP), a research study founded in 2005 that has pioneered open-access sharing of genomic and trait data. Through our years of work on the PGP, we recognized the need to link together the people and data from many exciting open research efforts.
Current partners with the Open Humans Network include the Harvard Personal Genome Project (PI: George Church, Harvard Medical School), American Gut project (PI: Rob Knight, University of Colorado, Boulder), Flu Near You: GoViral Study (Rumi Chunara, Boston Children’s Hospital) and the Mt. Sinai School of Medicine (Eric Schadt, Icahn Institute). By helping participants locate legitimate, open research projects and promoting data sharing, the Open Humans Network will allow any individual to make valuable contributions to science.
We believe that everyone benefits from a health research community that is more transparent, efficient, and equitable. Toward this end, we aim to reimagine health research and biodiscovery! Our sleeves are already rolled up, and we are tremendously excited to have the support from the John S. and James L. Knight Foundation’s Knight News Challenge to help us make our vision a reality.
For more information, visit us at: http://openhumans.org
– 501(c)(3) nonprofit organization
Rumi Chunara is an Instructor and Researcher working with the group HealthMap at Harvard Medical School and Boston Children’s Hospital. She brings together her background in engineering and epidemiology to build and use new tools for improving public health and our knowledge of how and why diseases spread. GoViral is the newest endeavor; a platform that creates a data-driven view of public health that the public can participate in and use directly.
What is Flu Near You and the GoViral study?
Flu Near You is a free and real-time online flu surveillance system administered by Healthmap, a research group at Boston Children’s Hospital. The Flu Near You website and mobile application allows the public to report their health information using a quick weekly survey. Using participant-reported symptoms, Flu Near You graphs and maps this information to provide local and national views of influenza-like illness.
This year we are recruiting people from Massachusetts for GoViral; a next-generation study that will revolutionize infectious disease prevention and awareness by making it community-based and data-driven.
GoViral combines for the first time, online crowdsourced data and diagnostic samples that people can provide themselves from their homes.
What will GoViral participants do?
Participants will receive a weekly survey (via email or push notification on our smartphone app) that takes about 20 seconds to fill out, asking which of 10 symptoms you had in the previous week. Participants will also receive a GoViral test kit they can keep at home. If at anytime you get sick with a fever and sore throat or cough, you will be asked to provide a really easy to obtain spit and/or nasal-swab sample. Participants will also receive a Do-It-Yourself home test that detects 4 different kinds of flu and cold viruses, and all samples will be analyzed at a central laboratory that checks for 20 different viral infections. The kits can be returned by USPS and results from these tests will be used for research purposes only.
We will be collecting and testing samples throughout the flu season (until about April). At the end of the season will ask participants to fill out a short survey (2 minutes) about how the information affected their behavior. Flu Near You is completely free to use. Data from each group will be aggregated and visualized in an easy to interpret yet anonymized manner.
GoViral Participants will be able to track their own history throughout the season and as well, through the aggregate data, be able to see in real-time what infections and symptoms are going around right near them so they can take appropriate public health measures and understand when something might be abnormal.
How can PGP volunteers specially contribute or benefit from the GoViral project?
Influenza happens every year and no groups are exempt! There are still a lot of open questions including how many people actually get the flu or another type of respiratory infection. This platform enables us to learn more without relying on who goes in to see the doctor, as not all people do. As well, we believe this type of platform can help keep people healthy by providing them with very relevant information.
We think that PGP volunteers would be great participants because they are excited about and knowledgeable about the valuable information that individuals can hold in regards to our health. In the future it would be interesting to examine genetic makeup and predisposition for respiratory infections!
For the first year of the study we are only recruiting people in Massachusetts, but in subsequent years we can expand to other locations around the country.
Learn more and join here: http://flunearyou.org/goviral
NOTE: Enrolled Harvard PGP participants may find more information about this and other studies inside the third party activities page.
The New York Stem Cell Foundation (NYSCF) announced today a collaboration with the Harvard Personal Genome Project (PGP). Initially, we will be seeking out 50 Harvard PGP participants to donate skin samples for generation of induced pluripotent stem cell lines.
Induced pluripotent stem (iPS) cells are derived from adult skin cells and can give rise to any cell type within the human body. This makes them a promising research focus for improving human health. The NYSCF’s robotic methods create standardized cells, which is important because it helps scientists understand when cell features are due to genetic or epigenetic differences (and not to the different techniques used to create the cell lines!). PGP participants are a great resource for scientists because their genome and other biological data can be shared publicly. By working together, the NYSCF and PGP will create standard iPS cell lines whose data can be published publicly – a great resource for the scientific community.
Harvard PGP participants interested in working with the NYSCF can view more details about this study on our third party studies page.
Genomics England is the company that will be sequencing the United Kingdom 100K Genomes Project. In response to a question raised during a recent “Town Hall” event, they stated that participants will have access to their data:
Q: Can I have access to my data? And how soon?
A: A patient can have access to their data if they wish and this can be provided to them in the appropriate format. The patient will receive the feedback from the sequencing and analysis of their genome via the clinician who is providing them with on-going care for their disease or condition.
We hope this means that participants will have access to the same “raw data” about their genomes that researchers will. If so, this represents an excellent step forward for both participants and researchers.
In this survey of GWAS studies by Ramoni et al., 4% of studies surveyed had returned individual results to participants. An NIH policy mandating data access for participants, as we recommended last week, would greatly improve this statistic. We hope providing participants access to their personal and identifiable study data becomes the norm rather than the exception.