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Personal Genome Project to Enroll 100 More Participants This Summer; Seeks to Raise $1.5M in Donations

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The Personal Genome Project plans to increase its enrollment by 100 this summer, following approval by Harvard Medical School's Institutional Review Board of revised consent forms and procedures for the project, according to a newsletter posted on the project's website last month.

In March, Harvard's IRB approved two revised consent forms for the PGP: a "mini-consent" for eligibility screening procedures and a full consent for participation in the project, which is seeking individuals who are willing to share their genome sequence and trait data with the research community.

Two years ago, the PGP enrolled its first 10 participants, including George Church, a professor at Harvard Medical School who conceived the project and is its principal investigator (see In Sequence 7/31/2007). Last fall, the PGP released preliminary exon sequence and trait data for these individuals, called the PGP-10, on its website.

The project is now seeking to enroll 100 additional participants for the PGP-100. Over time, it wants to incrementally increase the number of study subjects to 100,000.

According to the consent form, the study's main goal is to "explore ways to connect human genetic information with human trait information." As part of the study, participants provide tissue samples, along with personal and trait information, and their genetic and trait information will be made publicly available through a website and database.

Participants are expected to remain in the study for 25 years, though sample analysis and data processing may continue for up to 25 years after that. Barring objections from participants, their cell lines and information will be maintained for at least 50 years.

So far, more than 11,000 individuals have signed up online to receive more information about how to participate in the PGP. By June 1, they will receive e-mail instructions on how they can qualify for enrollment in the PGP-100. Those selected will need to visit a medical center in Boston for tissue collection, starting this summer.

After enrollment for the PGP-100 is completed, the project will start recruiting another 1,000 volunteers. "We will start the PGP-1000 more or less immediately after the PGP-100, once we have an opportunity to review the strengths and weaknesses of our protocol, incorporate feedback from volunteers and the community generally, and pending the availability of funding, et cetera," Jason Bobe, director of community for the PGP, told In Sequence by e-mail this week.

In a first step, volunteers will be screened to determine whether they are "a candidate for enrollment in a public and open-ended research study such as the Personal Genome Project," according to the consent form.

Minimum eligibility criteria include being 21 years of age, a resident of the United States, and passing an entrance exam that tests an individual's knowledge of genetics and other relevant concepts. The Alan & Priscilla Oppenheimer Foundation has developed an online educational study guide to help prospective participants prepare for the exam, which can be taken "as many times as necessary" to pass, according to the consent form.

"Beyond that, we are looking for individuals motivated to participate, those who both understand the nature of the project and have carefully considered their own personal circumstances to determine whether this research study is a good match for them," Bobe said. The project also gives preference to several applicants from the same family, he added.

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As part of pre-enrollment procedures, eligible applicants then need to provide "baseline trait data", including date of birth; medications; allergies; vaccinations; medical history; race, ethnicity and ancestry; height; weight; and blood pressure. Additional trait information, such as a headshot, family medical history, or lifestyle traits, may be requested as well.

Prospective participants are also asked to make a financial pledge to the project. However, such contributions, "while greatly appreciated, will have no bearings on an individual's chance of being selected for enrollment," according to Bobe.

But the project depends vitally on outside funding, and contributions "definitely will influence the pace at which we can expand enrollment to larger numbers of participants," he said, "so we will encourage participants and others to support the PGP however they feel is appropriate."

According to the PGP newsletter, PersonalGenomes.org, which became a 501(c)3 charitable organization last fall, seeks to raise $1.5 million in donations for the project this year from foundations, private companies, and individuals. The organization will also encourage participants to become "personally invested" in the future of the PGP and will provide them "with appropriate fundraising tools," according to Bobe.

The project also seeks non-monetary contributions. One example are planned open-source informatics tools that will "benefit greatly" from development by computer scientists, clinicians, and user-interface experts, he said.

If invited to continue the enrollment process, applicants need to submit a saliva or hair sample. After enrollment, some participants will also be asked to provide a skin biopsy or blood sample, which will be used to generate cell lines.

Cell lines will be held by the Coriell Institute's Human Genetic Cell Repository, and will be made available to third parties for research, clinical, therapeutic, commercial, or other purposes.

According to Bobe, the PGP has a number of criteria for selecting participants for enrollment. In particular, the project is looking for "older individuals", members of the same family, and "stakeholders of various communities," such as genetic counseling, drug development, health informatics, and patient advocacy.

Once enrolled, participants' DNA will be analyzed. Bobe did not reveal how this will be done, or what sequencing technology the project anticipates using.

Most of the PGP-10 exon-sequence data published last fall (see In Sequence 9/23/2008) was generated on the Illumina Genome Analyzer and the Polonator platform that Church's lab developed (see other feature in this issue).

In addition, the DNA analysis for the PGP-10 included array-based SNP genotyping data and gene-expression data.

Once the analysis is completed, PGP subjects will receive back both their DNA sequence data and a preliminary research report. The report will contain a "non-comprehensive" list of genetic variants currently believed to be of clinical significance and "additional information, resources, or interpretation that the PGP may deem appropriate" to provide, according to the consent form.

The report will represent "only preliminary research findings" and is "not intended to substitute in any way for professional medical advice, diagnosis, or treatment, and may not be used by [participants] for any medical or clinical purpose" unless confirmed by a healthcare professional, the consent form advises.

Based on the report, participants can decide whether they want to release their DNA sequence data to the PGP's public website and database, or whether they want to withdraw from the study.

Potential participants are "strongly encouraged" to discuss the study and its potential risks ahead of time with family members and their doctors, since public disclosure of genetic and trait information "could affect your employment, insurance, and financial well-being and social interactions for you and your immediate family," according to the consent form.

Among other potential risks, participation in the study may result in "higher than normal levels of contacts from the press and other members of the public motivated by positive or negative feelings about the study," resulting in "a significant loss of privacy and personal time."

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