Advisory board. As the PGP technology is advancing rapidly we would like to begin discussing the best ways to recruit people to have their genome sequenced (in part or whole). This web page is a work-in-progress draft. Volunteers for designing this plan as well as potential volunteers for genome sequencing are welcome. This may involve ethicists, attorneys, database-security experts, medical records, management, fund raising, public relations, education, etc.
Informed consent. The potential advantages of having large sets of phenotype and genotype information in the public domain have to be balanced by potential harm to the volunteers involved. Volunteers probably need to come from the same well-informed communities as the advisory board and need to prove their knowledge in all of the relevant aspects, in particular the risks to themselves and family (see below). We will try to minimize coercion including lures of personal benefit to the volunteers. This will be imperfect, but can be nurtured by making the costs to the volunteer higher than the perceived gain. For example, the volunteer could be required to donate/raise funds in excess of the likely medical benefits to him/her as an individual so that motivations will be confined to curiosity, science, and eventual societal impact. Inevitably volunteers will appear who are employees of prior volunteers or advisory board members. They would need to provide evidence that their employment is not affected significantly by their decision to participate in the PGP.
Potential risks. Volunteers should be aware of the ways in which the openness of their genome and phenotype can be used against them. For example, in principle, anyone with sufficient knowledge could take a volunteer's genome and/or open medical records and use them to (1) infer paternity or other features of the volunteer's family, (2) claim statistical evidence that could affect employment or insurance for the volunteer, (3) claim relatedness of the volunteer to infamous villians, (4) make synthetic DNA corresponding to the volunteer and plant it at a crime scene, (5) revelation of currently disease. (Note that this last example does not necessarily imply only helpless waiting, e.g. the affected individual can become an advocate for research on that disease.)
Potential benefits. Some examples of benefits to society are described in the review article above. In addition, benefits to the individual (which would hopefully be initially perceived as minor in order to reduce coercive motivations) might include (1) early-adopter status, (2) self-curiosity, (3) suggestions for diagnostic tests. It should be emphasized that, at the beginning, while the sample size is small, we should not expect to make statistically significant assocations between genotype and phenotype, but rather to generate long lists of hypotheses and develop advanced data integration tools.
Commercial vs non-profit.. If the Human Genome Project (HGP) and HapMap are taken as examples, there will be strong motivation to make the results of PGP-like project freely-accessible (even if it starts as "privately owned"). Conversely if it starts as a public project, then the appearance of companies which offer related services will probably be a sign of success of a PGP.
This web page represents a initial attempt at a non-profit model. We feel that the "openness" of the technology and volunteers will inspire more support.
We are not opposed to commercial aspects, just giving the non-profit a slight head-start.
UK Biobank : 500,000 volunteers planned for 2005.
deCODE.com : 100,000 volunteers.
Genomics Collaborative, Inc. : over 120,000 patients.
Other precedents for the volunteer effort
Software: Linux , GNU/FSF, PGPi
SourceForge.Net: 792,715 members.
Public Library of Science (PloS) : over 20,000 signatures
Walkthons, e.g. Jimmy Fund
RedCross/RedCrescent: 97 million members 20 million volunteers.
Costs. While the PGP costs are dropping very rapidly, the research and development are high and deserve our support. Current R&D efforts include: (1) higher accuracy, (2) lower costs, (3) user-friendly software, (4) security for private genomes, (5) enhanced access for public genomes, (6) statistical association of genotype, environment, and phenotypes, (7) Ethical, legal and social impacts (ELSI). Eventually to get excellent statistics, PGP may require millions of volunteers. Possibly after an initial trial with dozens of volunteers, some fraction of this PGP will transition to a more private model, but only if this is the desire of the volunteers and/or scientific communities. If you would like to help raise funds for general R&D or for specific purposes please contact us.
Volunteers & suggestions:
Please email us with the word PGP in the subject heading. It would be helpful if you mention your fields of interest or expertise and whether you are interested in being a donor of advice, funds, genome, and/or phenome. Please allow a week for response.