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Stanford Med Student Study Suggests Genotyping Option Improved Learning in Personalized Medicine Course


Students genotyped as part of an elective personalized medicine course at Stanford University School of Medicine showed better improvement in their knowledge of class materials than those who didn't undergo testing, according to research published this week.

The study, which appeared online in PLOS One on Tuesday, reported results of voluntary surveys taken before and after the course, as well as a test measuring knowledge of course materials.

According to the study authors, 23 students from the class who opted to be genotyped and receive their testing results had 31 percent better knowledge of class material at the end of the course than they did at the beginning. This was a considerably better improvement in knowledge than a non-significant change in the eight students who opted out of the genotyping.

The tested students also did not report experiencing significant anxiety about receiving their results. Eighty percent were pleased with their decision to be genotyped, and 70 percent felt the experience resulted in a better understanding of human genetics based on the study surveys.

Keyan Salari, currently a resident at Massachusetts General Hospital, formerly the director of the Stanford personalized medicine course, and the lead author of the study, told PGx Reporter this week that since the Stanford course's inception in 2010, similar classes and programs have been instituted at other institutions.

"I think everyone who has considered running a course like this thinks of the same potential issues that could arise, but also the same potential benefits that could result from having students learn by using their own data. Our study provides at least some data that the benefits are there," Salari said.

Because genotyping was voluntary, the students who received genetic information in the study represent a self-selected and small cohort. In fact, several had already sought out personal genetic testing on their own before enrolling in the course, according to the study authors. Thus, the researchers stressed that the results are only a limited indication that genetic testing may improve learning in this type of class.

To determine more confidently that personal testing enhances the learning experience, future studies should randomize students interested in receiving personal genomic results to either receive those results or work instead with public data, the authors wrote.

In the present study, the group electronically surveyed students both before and after participating in the course, including an exam to measure their knowledge of the class material.

In the course, students received two weeks of preliminary instruction and class discussion led by a clinical geneticist, a genetic counselor, and a bioethicist/lawyer about the risks, benefits, uses, and limitations of personal genetic testing. After these first two weeks, students decided whether to personally undergo genotyping using the services of either one of two personal genetic testing companies— 23andMe or Navigenics.

According to the study, all 23 students who opted for genotyping chose the 23andMe service, including several who had been genotyped by the company previously and chose to use their existing results in the course. Since this study was conducted, Life Technologies purchased Navigenics for its CLIA lab and decided to discontinue its DTC genomic testing services.

During the rest of the course, students could analyze genotype data using either a dataset comprising 12 diverse individuals from the HapMap project or their own genotype data.

According to the study authors, the survey results suggested that about 35 percent of genotyped students indicated at the start of the course that they would recommend personal genetic testing for a patient. Their views in this regard didn't significantly change at the end of the course.

In contrast, students who declined genotyping seemed to be less inclined to recommend testing after the course than they were before it. Initially, half said they would recommend testing before the course, but only 12 percent maintained this position afterward.

At the start of the course, 100 percent of the students reported thinking that most people cannot accurately interpret their genetic testing results. Very few thought that personal genetics companies provided correct analysis and interpretation of genotype data.

But after the course, significantly more of the genotyped students believed that people could accurately interpret their results and had a more favorable view about the ability of DTC firms to provide appropriate analysis and interpretation. Meanwhile, the non-genotyped group continued to feel that both patients and companies cannot accurately analyze or interpret testing results.

"Among genotyped subjects, 70 percent felt that they acquired a better understanding of principles of human genetics on the basis of undergoing PGT, and 65 percent felt that undergoing PGT was an important part of their learning in the course," the authors reported.

About a third of students who used personal genotype data felt that they would have learned just as much in the course had they not undergone testing and a similar fraction of the non-genotyped group felt that they would have learned more in the course had they used personal genotype data instead of publicly available data.

Sixty two percent of the group as a whole — whether or not they had been genotyped — said they would undergo whole-genome sequencing in the future, according to the study.

In instituting the personalized medicine elective, Stanford grappled to make sure the experience would not be coercive of genetic testing, implementing several precautionary measures, including complete anonymity of student genotype results.

Because of this, Salari said, the study wasn't able to track whether the genotyping yielded any clinically actionable or otherwise relevant results for those who participated.

In 2010, University of California, Berkeley, got in trouble with the California Department of Public Health after announcing plans to engage incoming freshmen in an educational exercise in which they could voluntarily receive genetic 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. Berkeley's experience with health regulators raised awareness among universities and colleges that curricula offering genomic testing to students need to be designed carefully (PGx Reporter 08/18/10).

The Stanford group did survey the students as to whether or not genotyping influenced them to make changes in their behavior. Initially, about a third of the tested students said they had already changed or were thinking about changes to diet, exercise, or smoking habits based on genetic evidence of elevated risks.

"We asked a series of questions about things as small as searching in the internet about a disease you are at higher risk for, talking to your family, talking to your doctor, and also behavioral changes to lifestyle factors," Salari said.

"There were a number of students, about a third, who indicated initially that they had some behavioral changes at the end of the course, which was about five or six weeks after having undergone genotyping."

However, Salari said, when the group followed up with a smaller subset of these subjects six months after they had received their genotyping results for a separate qualitative study — published this May in Genome Medicine — none had taken significant behavioral actions.

As Stanford has moved forward with its personalized medicine course, several other schools have also explored this type of instruction, including the University of Pennsylvania School of Medicine, which has offered its fourth-year medical students a similar course in personalized medicine, and SUNY Upstate Medical University, which has been offering a course on personalized medicine that also offers students genetic testing opportunities (PGx Reporter 6/9/2010).

As of 2011, Tufts University has taken an opposite stance, deciding that students would benefit better from using anonymous genomes instead of their own data to explore societal, policy, and ethical issues (PGx Reporter 1/26/2011).

According to the PLOS One study, students in the inaugural Stanford class, both genotyped and non-genotyped, felt overall that personal genomic testing should be made available to medical and graduate students "as part of their genetics curriculum in some manner." But the students varied in their opinion of whether it should be incorporated as an option in an elective or core course.