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Tufts Publishes Lessons Learned from Personalized Genomic Testing Pilot Program


By Turna Ray

In an effort to craft an academic program that will teach medical students the benefits and limitations of whole-genome testing in healthcare, Tufts University will rely on anonymous genomes as a teaching tool for the time being, rather than use students' own genomes.

In an article published this week in Genetics in Medicine, Tufts described how it formed a multi-disciplinary group that spent more than a year discussing different strategies for teaching students the various issues related to personalized whole-genome testing. After lengthy deliberations, the faculty decided that students, for now, would benefit from using anonymous genomes instead of their own data to explore these societal, policy, and ethical issues.

In making this decision, Tufts faculty members were concerned how the test results would be understood by students, and how that would impact their participation in the educational experience. "Each student participating in this program would have a different impact from seeing their own genomic data," Diana Bianchi, professor of pediatrics, obstetrics, and gynecology at the Tufts University School of Medicine, told PGx Reporter this week. "For example, a person who learns he or she might be at greater risk for breast cancer might focus exclusively on that and not everything that we are trying to teach in the course."

Bianchi added that "you can't just jump in and offer this type of curriculum." The Tufts committee "is meeting on an ongoing basis to push the curricula forward and determine the best way to incorporate the lessons learned" from 16 months of deliberations.

According to the Genetics in Medicine paper, Tufts began looking into how to incorporate personal genomics into its medical school curricula In October 2008, when David Walt, a chemistry professor at Tufts University School of Arts and Sciences, the lead author of the paper, and a director at Illumina, got the support of direct-to-consumer genomics firm 23andMe to offer discounted testing to students.

However, the deans of the various schools at Tufts had serious concerns about the impact that students' own genomic data would have on their mental health and educational experience. Furthermore, the academic leaders pointed out the need for informed consent, privacy protections, and institutional review board approval for this type of program to kick off. At this point, the multidisciplinary faculty group was formed to discuss the risks and benefits of personalized genomic testing for medical students.

"One suggestion that came out of the initial meeting was to consider using anonymous genomes as an educational vehicle," Walt and colleagues wrote in the Genetics in Medicine paper. "This strategy would remove concerns regarding privacy, psychological impact, and risk of harm from potentially invalid data. However, some members of the committee maintained that receiving the results from one’s personal genome would make the experience more meaningful."

In drafting an IRB proposal for a pilot program, the faculty recommended that participation in genetic testing would be voluntary. Within the volunteer group of students, a random selection would get to have their own genomes analyzed, while everyone else would use anonymous genomes. "This protocol would allow for a rigorous and meaningful comparison on the effect of a student using their own genome versus an anonymous genome," Walt and colleagues wrote.

The IRB's review notified Tufts that the study proposal would need IRB approval, informed consent, a clear plan for how student privacy would be maintained, and protections to ensure that students aren't coerced to participate in the program.

Finally, in 2009, Tufts settled on using anonymous genomes to teach its incoming medical students that fall. The curriculum that was designed for the pilot included a new lecture on the science and technology of commercially available genomic testing, and the use of anonymous genomes known to be at risk for a handful of diseases, such as cystic fibrosis, HIV, and diabetes. The anonymous genomes provided by 23andme would be linked to the Tufts University Sciences Knowledge database, and students participating in the program would have to evaluate the clinical validity and utility of the test results.

Additionally, as part of the pilot, students would be surveyed about their attitudes about personalized genomic testing, and a few faculty members would have the option of having their genomes analyzed by 23andMe.

The student survey in September 2009 showed that some students were uncomfortable with Walt's industry ties. "The students’ perception provides an important lesson to institutions contemplating implementing courses and other activities in this area," Tufts researchers wrote in the paper. "Conflicts of interest will often be present, and they should not necessarily disqualify someone from participating in the curriculum. However, when such conflicts exist, they must be disclosed to the students."

Tufts is planning to publish detailed results from the pre- and post-course student surveys in a separate publication.

Additionally, of the seven Tufts faculty members that underwent genomic testing, one was diagnosed with having gene mutations linked to cystic fibrosis and hemachromatosis. Another faculty member's results suggested a heightened risk for developing glaucoma.

According to the Genetics in Medicine paper, the faculty members' experience suggests that personal genomic testing often raises additional dilemmas, such as the need to have family members tested, as with the person harboring mutations for cystic fibrosis, and the need for doctors to be involved, as in the case of the person with greater risk of glaucoma.

These were some of the dilemmas that got state-funded Berkeley in trouble with the California Department of Public Health last year. In May 2010, as the Tufts program was wrapping up its first academic year having integrated personal genomic testing into its medical school curriculum, Berkeley announced plans to engage incoming freshmen in an educational exercise in which they could voluntarily participate in testing to learn what their genes say about their ability to metabolize alcohol, lactose, and folates. But CDPH promptly restricted Berkeley from reporting genetic testing to its students since doctors would not be involved and the testing would not be done in CLIA labs (PGx Reporter 08/18/10).

Despite these restrictions on Berkeley's efforts, the school was able to still carry out lectures and debates on the ethical, legal, and social aspects of giving consumers access to their own genomic data. Furthermore, Berkeley's experience with health regulators raised awareness among universities and colleges that curricula around genomic testing for students need to be designed carefully.

According to Tufts researchers involved in the development of the personal genomic testing curriculum, Tufts' own experience highlights the need for a high-level, multidisciplinary faculty body to debate the issues related to such a program, and the need to engage an IRB from the start.

In the Genetics in Medicine paper, Walt and colleagues recommended that if an academic institution is going to offer genetic testing to students, there needs to be a plan for data protection, follow-up of abnormal results, and counseling; curriculum committees should consider ways of using anonymous genomes to enrich coursework on genetics, genomics, genome-wide association studies, and sequencing; and lecturer conflicts of interests should be disclosed to students.

"We strongly advocate that genomic analysis and personalized medicine is a necessity for modern medical school education, both to be able to translate the advances made in genetic analysis and knowledge into improvements in human health and to begin to think of diseases as disruptions in specific pathways," Walt said in a statement. "Our experiences illustrate that adding this material to a medical school curriculum is a complex process that deserves careful thought and broad discussion within the academic community."

In addition to Tufts, other academic institutions, such as Duke University, are also in the process of figuring out how to integrate personal genomics topics into their educational framework.

Stanford University also announced last year that it would offer MD/PhD students the chance to be genetically tested as part of an elective course being offered in the summer quarter (PGx Reporter 06/09/10).

Have topics you'd like to see covered in Pharmacogenomics Reporter? Contact the editor at tray [at] genomeweb [.] com.

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