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In Bid to Grow Enrollment, PGP Issues Entrance Exam to Ensure Genetics Literacy of Participants

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Aiming to increase enrollment in the Personal Genome Project from its current 10 participants to 100 by this summer, Harvard Medical School's Institutional Review Board will administer an entrance exam to ensure recruits come into the project with basic genetic literacy.

"In prior years, all volunteers were requested by the HMS IRB to have a master's level degree or equivalent training in genetics," Jason Bobe, director of community for the PGP, told Pharmacogenomics Reporter by e-mail this week.

"While this may have been a necessary first step, we have been working on a more scalable, rigorous, and educationally valuable method to improve the informed consent process and expand the number of individuals eligible to participate in the PGP on an informed basis," Bobe added. "We feel an entrance exam is a good way to accomplish these goals."

The PGP enrolled its first 10 participants two years ago, including George Church, a Harvard Medical School professor who started the project and is its principal investigator. Last year, 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 and is planning to eventually increase the number of participants to 100,000. To date, around 11,000 individuals have signed up online to receive more information about the project.

In its bid to increase enrollment to 100, the PGP will e-mail instructions by June 1 to those 11,000 individuals on how to apply and qualify for the study. Before fully consenting to be part of the project, potential participants will be asked to take a 25-question entrance exam covering basic genetic concepts, project protocols, and social issues related to genetic screening.

In order to help people prepare for the exam, the PGP is providing a study guide developed by the Alan & Priscilla Oppenheimer Foundation. The study guide provides sample questions similar to those in the exam.

According to Bobe, in order to be accepted in to the project, participants must get every question correct, but they may take the test as many times as necessary.

"We felt the entrance exam was a good approach for identifying individuals who are motivated to participate in our research study on an informed basis," Bobe said. "This is particularly important for the PGP since we are not guaranteeing confidentiality or anonymity."

As part of the consent process for the study, participants must agree to provide tissue samples, and make public through the PGP website and database their personal and genetic trait information. Study participants will remain enrolled in the study for 25 years, but sample analyses and data processing will continue for and additional 25 years after that. If participants agree, their cell lines and information will be maintained for at least 50 years.

The consent form "strongly encourages" potential participants to discuss the study and the risks of participation in the project with family members and 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."

Among other 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," the consent form warns.

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"The open genomics model of research has the benefit of providing an opportunity for built-in feedback loops, where the experiences of early enrollees can be educationally valuable to the public and future participants," Bobe said. "As we expand the project to larger numbers of volunteers, we hope to expand the training resources available to prospective participants as well."

Educated Consumers

According to Bobe, while the entrance exam model is a viable strategy for ensuring genetics literacy of participants in an open research environment, it may not be necessary in a commercial setting, where personal genomics companies keep private their customers genomic data.

Commercial personal genomics firms, such as 23andMe, Navigenics, and Decode, do not test their customer's genetic literacy. However, all these companies do provide their customers with educational resources on genetics topics and update them with new genetics research information.

"The learning obtained through the PGP's approach will be a valuable contribution to the field, but it should not be the only approach," Elissa Levin, Navigenics' genetic counseling program director, told Pharmacogenomics Reporter via e-mail this week. "People tend to learn most effectively when they have a personal interest, a vested interest, in the topic at hand.

"We have taken another approach; not to sort out those who are ready to receive genetic information, but to actively educate them using a variety of tools and support," Levin said. Navigenics employs a staff of genetic counselors to advise and educate its customers, in addition to educational materials and training modules for physicians.

Meanwhile, 23andMe mainly uses web-based interactive tools, such as blogs and online groups, to keep its customers educated and updated.

"We put a tremendous amount of effort into creating an informative interface to an individual's genetic data through our Personal Genome Service," a 23andMe spokesperson told Pharmacogenomics Reporter. "Hopefully this service gives people, who may not have formal training in genetics, a good basis for understanding how the rapidly evolving knowledge base around DNA relates to their own genome, without requiring an enrollment exam."

One consideration for commercial personal genomics firms is that administering a mandatory genetics literacy test may deter potential customers. As a result, instead of making educational testing a prerequisite for genetic testing, at these commercial firms genetics education is included in the price of genetic screening for all paying customers.

"We believe our service provides many tools and features that inherently increase the genetic literacy of our customers, so rather than screening individuals prior to enrollment, we strive to give everyone, regardless of their familiarity, a broad understanding of how genetics plays a role in health and ancestry," the 23andMe spokesperson said.

PGP enrollees who have their DNA analyzed will receive a report of preliminary findings, including their DNA sequence data, a non-comprehensive list of genetic variants believed to be clinically significant, and data interpretation. Based on this report, participants will receive a last opportunity to either finalize their decision to make public their DNA sequence data or withdraw from the study.

In addition to passing the entrance exam, other minimum eligibility criteria include being 21 years of age and a resident of the United States. Preference will be given to several applicants from the same family, older individuals, and people willing to represent the PGP in stakeholder communities.

PGP is seeking to raise $1.5 million in donations for the project this year from foundations, private firms, and individuals. Prospective participants are asked to make a financial pledge to the project and encouraged to fundraise for the project. Financial contributions will not affect a person's eligibility in the project, Bobe noted.

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