Thank you for registering for updates about the Personal Genome Project (PGP). Since our last newsletter in April, we have been busy developing the infrastructure to support the next phase of enrollment where we will scale the PGP from 10 participants ("PGP-10") to 100 participants ("PGP-100"). This newsletter highlights some of these advancements.

PGP-100: Exomes vs. Whole Genomes

The cost of whole human genome sequencing is plummeting. In less than 2 years, we have witnessed prices drop from more than $1 million to now less than $50,000 per genome, with some speculating that the arrival of $5000 genomes is imminent. This is a trend that the PGP is monitoring closely because it will impact our sequencing strategy for the PGP-100.

The PGP's initial strategy for sequencing was to focus on "exomes". Despite being only a fraction of a human genome, an exome contains all 20,500+ genes and therefore is information rich and (in theory) a more economical alternative to whole genome sequencing. However, the cost of exome sequencing has not fallen as rapidly as whole genome sequencing. For the PGP-100, the decision to pursue whole genomes is increasingly a viable option, but will ultimately depend on many factors including the fundraising success of the non-profit PersonalGenomes.org and the willingness of sequencing companies to publicly showcase their technologies through sponsorship of PGP-100 genomes.

Trait-o-matic: PRR preview

Developed at the Church Lab at Harvard Medical School, the open source Trait-o-matic tool automates the identification, filtering, and annotation of genetic variants. Public datasets from the PGP and the Trait-o-matic tool are intended to serve as foundational resources for the development and evaluation of universal standards for genomic interpretation.

In future releases, the Trait-o-matic functionality will be expanded to enable a community of volunteers to annotate and interpret integrated genomic and trait datasets from the PGP. The tools, algorithms, and processes employed in the interpretation of these datasets will be made available for the benefit of the general public, so their strengths and weaknesses can be identified and improved over time.

The PGP also plans to use the Trait-o-matic informatics tool to generate "Preliminary Research Reports" (PRRs) for PGP participants. PRRs will contain a non-comprehensive list of genetic variants present in the participant’s DNA sequence data that may be of potential significance and are intended to help each participant make a more informed decision about whether to publicly release their PGP data.

The genomic datasets from the PGP-10 have been used to develop an early prototype of what PRRs may look like for the PGP-100. You can view these datasets and prototype PRRs via the Trait-o-matic website:

Legal Tools for Public Genomics

PersonalGenomes.org is committed to advancing the science of personal genomics by making research data from the PGP freely available to the public. The PGP has adopted the CC0 (“CC zero”) universal waiver to help us accomplish this goal. Creative Commons developed the CC0 universal waiver to provide a method for dedicating copyrighted works to the public domain. Read more about the CC0 waiver here.

Tissues, cell lines and DNA derived from PGP participants are stored at the Coriell Institute for Medical Research biorepository and will be distributed according to the Science Commons Open Use Material Transfer Agreement (SC-OU MTA). Science Commons, a project of Creative Commons, has developed these contracts with the aim to reduce the technical and legal hurdles investigators often face in the transfer of physical biological materials. The MTA to be used by the PGP is available on our consent forms page here. Read more about the Science Commons Biological Materials Transfer Project here.

What ELSI is New?

This month the Genomics Law Report is featuring a series of guest commentaries from industry, academic and thought leaders in the fields of genomics and personalized medicine. Entitled "What ELSI is New?", the series asks commentators to identify the most pressing ethical, legal and social issues (ELSIs) confronting the fields of genomics and personalized medicine and has already identified a wide range of ELSIs that must be addressed to enable projects such as the PGP to fully realize their potential.

Contributions thus far include:

Click here to read all of the previously published commentaries, and check out the Genomics Law Report all month long for additional commentaries, including several from current PGP participants.

Published research from the PGP

So far in 2009, there have been 4 published research articles that used tissues derived from PGP participants:

Four additional research articles have been submitted for review and publication. We have added a page on the website to track publications that use PGP materials.

Webisodes from Documentary about the PGP

Did you know there is a documentary film being made about the Personal Genome Project? Two-time Emmy Award-winning documentary producer Marilyn Ness has been following around the Personal Genome Project (PGP) staff and volunteers for the past several years. We're thrilled to announce that she has released three webisodes featuring PGP-10 participants. Watch Webisode #1 featuring George Church; Webisode #2 featuring Rosalynn Gill; Webisode #3 featuring John Halamka.

Support PersonalGenomes.org

Contributors to PersonalGenomes.org who donate $50 or more between now and December 1st 2009 will receive one our new PGP stickers. Donate now.