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Participant FAQ
Once you are enrolled in the Harvard PGP, there are many ways to participatethat are extremely valuable to researchers, even before you have a sequenced genome. This is often an overlooked component of the Harvard PGP, and as a participant, it is important to recognize that the data you share, with or without a sequenced genome, is still vital to researchers and lays the groundwork for revolutionizing the way human genomics research is conducted and funded.
Some of the ways you can participate prior to sequencing:
- Trait surveys - This standardized data sets a foundation for understanding more about your "phenotype" and helps establish a prevalence and associations for these various traits and diseases in participants.
- Trait data - This will be collected via online questionnaires, uploading of your personal health record (PHR), and other platforms. Information gathered includes allergies, immunizations, personal medical history, medications, physical traits and measurements, diet, ethnicity/ancestry, lifestyle, environmental exposures and other traits.
- Donate data you already have or may later obtain - by donating your 23andme, Ancestry DNA, or other sequencing or genotyping data you may have obtained elsewhere.
- Keep your profile up to date - by keeping your data up to date, including medical data and any other data you are willing to share, you provide invaluable resources to researchers.
- Add your name publicly to your profile through our "real names" option, should you feel that is right for you.
- Third-party studies - The Harvard PGP periodically connects participants with other opportunities like research studies or surveys that might be appropriate or of interest to our participants. All participants qualify for some of these activities and for others, only participants with sequenced genomes can participate.
- Conferences and Labs - The Harvard PGP hosts an annual conference and participant-oriented labs event in Boston called the GETConference and GETLabs. In 2015 the event was entitled GET Global and was held in Vienna, Austria, to celebrate our 3 international partners, PGP Canada, PGP UK, and Genom Austria. We also partnered with the Mind First Foundation for the first MindEx Conference and PGPalooza, another annual Boston event open to PGP participants! These events directly put researchers and participants face to face.
Once you have passed the enrollment requirements for participation in the PGP, there are no selection or prioritization criteria other than "the ability to give a sample at a collection event" that determine whether a participant would potentially have a genome sequenced and returned to them. There is no prioritization in response to donations, and also no prioritization based on when a participant joined the project (i.e. there is no "queue"). Sequencing is still a costly and time-consuming process, and it occurs as resources are available.
While we don’t prioritize sequencing in return for donations, participants are welcome to pursue sequencing through third parties and donate their data to the PGP or participate in the recently announced sequencing opportunity for PGP participants through Veritas Genetics. This opportunity is now set up as a third party activity through your PGP account.
All blood samples collected in our blood collection events over the past year or more are in the sequencing pipeline. Some are awaiting sequencing and are safely stored in our freezers, and some are at various stages of the actual sequencing process.
As you know, sequencing is a lengthy and complex process, and once the sequencing is complete, there is still more that has to be done on our end before your genome is ready to be released to you. Our staff is small, so we have to do the work in batches, thus making the process take longer than we wish it would, and it can often take a year or more.
We do not currently send out test kits as we are unable to accept blood at this time unless it is collected in one of our group events. We let participants know about upcoming collection events through email announcements and the PGP site. However, the Harvard PGP is actively seeking out alternatives to specimen donation in the future.
At this time we are not set up for participants to fund their own sequencing through the Harvard PGP. However, if you are interested in having your genome sequenced on your own, the Harvard PGP is capable of accepting donated genomes. In order to participate in our project, it is not required that the genome be sequenced through PGP channels only.
The Harvard PGP cannot directly recommend or endorse Direct to Consumer (DTC) sequencing providers. However, you may find this List of Personal Genome Sequencing and Interpretation Services a useful place to start your own research into what may be appropriate for you. This list is not necessarily up-to-date, comprehensive, or recommended by the PGP or any affiliated institutions.
Participants now have an additional option for sequencing through the recently announced sequencing opportunity for PGP participants through Veritas Genetics, which will be set up as a third party activity in the coming weeks.
At this time the Harvard PGP is not set up to accept donation of other genetic data except under special circumstances. We are working on having the capability, however. Please contact us if you have questions.
The PGP collected saliva samples from many PGP participants in the past. Those samples are still safely banked, and that is incredibly valuable data that we hope to utilize one day.
We are a small but growing study, sequencing is costly, and technology is changing rapidly. What we initially set out to do has conceptually stayed constant. However, how we are getting there has had to shift based on real-world variables that are not always within our control.
Our team of researchers are continually seeking funding for sequencing and forging new relationships with industry partners in the hopes of bringing innovative solutions to participant sequencing needs.
No events are scheduled at this time. Please keep your eye on the PersonalGenomes.org blog for announcements as well as emails from the Harvard PGP.
We appreciate how enthusiastic participants are about donating samples, and we get asked all the time about kits, if there's a local lab for donations, or whether we can hold events in more locations across the country. We'd love to have collection events in many other locations, and are slowly branching out to explore this. One thing we do is check which regions have the most participants - for this we use the ZIP code in your shipping address in your account. So make sure that's up to date: it'll let us know you're there! You can update that by logging in and going to the "Account" tab and selecting "Shipping address."
One thing participants may not realize is that there is actually a lot more involved than just donating a sample, which is largely why we have gone to the collection event model. Its important to remember that there are many other key elements involved, including processing logistics, sample tracking, and participant identity verification. This is a study where participant data potentially becomes public (and potentially identifiable), and this necessarily requires that certain protocols be followed.
Our staff is working hard at forging innovative relationships with partners that can perhaps simplify this process, while at the same time solving some of these problems that must be very carefully worked through in order to protect the rights of participants.
Please keep your eye out for announcements through the PGP site
As an organization, we have made a conscious decision to notify everyone in the Harvard PGP about upcoming events regardless of location or donation status for many reasons, but primarily because it lets participants know that the Harvard PGP is active and growing and keeps them more up to date on our activities.
However, if you feel that you would no longer like to receive emails from the Harvard PGP, you can select “unsubscribe” on the email you received about a blood collection event. You will still be enrolled in the project, but you won’t receive general informational emails from the Harvard PGP or emails that might notify you of specific PGP events.
If you choose that option, you can continue to keep up to date with news about this study by following the PersonalGenomes.org blog. It is a great way to stay in touch with what is happening with the PGP.
If you are familiar with commandline tools, please use cgatools mkvcf.
If not, we have created some VCF files for participants, so you can check here: https://workbench.su92l.arvadosapi.com/collections/su92l-4zz18-ppslk16xrt1fdoo#
You can map between your huID and the filename above by checking the CGI filename of your sample at https://my.pgp-hms.org/public_genetic_data . For instance, hu24A473 maps to GS03132-DNA_F01.
Otherwise, we probably will not be able to help you. Sorry!
You can find instructions on your PGP Harvard account. Please follow the instructions there. If you have problems, please let us know.
Unfortunately, Healthvault does not automatically update in our system. You can find instructions for updating your Healthvault data here through your PGP Harvard account.
If you're able to export PDF, then maybe you can upload that to your profile. You can upload the data here
The data would then be linked to your profile, and if anyone wants to do a deep dive into your health data, it will be there. In the future, there may be the capability of analyzing data with optical character recognition.
You are free to decide at any time that you no longer want your tissue samples, DNA sequence data, cell lines or other information to be used as part of this study. However, it may not be possible to prevent the future use of your data, cell lines and/or other information in certain circumstances. For more information on this, please refer to the consent for participation PDF.
The PGP data has been helpful to many researchers, however since we do require neither credit nor notice be given to the PGP for use of the data we cannot provide a comprehensive listing. Below are a few publications using PGP data:
- Informing the Design of Direct-to-Consumer Interactive Personal Genomics Reports. 2015.
- Extensive sequencing of seven human genomes to characterize benchmark reference materials. 2015.
- [Harvard Personal Genome Project: lessons from participatory public research. 2014.] (http://www.biomedcentral.com/content/pdf/gm527.pdf)
- Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. 2012.
- A public resource facilitating clinical use of genomes. 2012.
- SNPedia: a wiki supporting personal genome annotation, interpretation and analysis. 2011.
- Personal genomes in progress: from the Human Genome Project to the Personal Genome Project. 2010.
- From genetic privacy to open consent. 2008.