Reed Pyeritz says it is a truism that every medical student should be admitted to the hospital at some point, "just so they can experience life from the other side of the bed." Indeed, every health professional will — at one point or another — inevitably become a patient. But at the University of Pennsylvania School of Medicine, where Pyeritz is a professor of medicine and genetics, fourth-year medical students have the option to become their own patients by analyzing their personal genetic data as part of an elective course that he offered for the first time this year.
"No matter what their specialty, physicians are going to be faced with interpreting this kind of genotypic information, whether they solicit it on the basis of ordering it for their patients, or [they] just have a patient walk in and say 'Look, I spit in a cup and I got these results. Tell me what they mean,'" Pyeritz says.
Students in Pyeritz's class first attended lectures outlining the "potential benefits — and the clear limitations — of the genome-wide association study approach to [identifying] genetic factors in common disease," he says. Of the 18 students enrolled in the course, three elected to be genotyped through the Coriell Personalized Medicine Collaborative. One student even chose to discuss his results with the class; he was surprised to find that he was homozygous for a risk allele associated with a common disease. "He was quite willing to share his reactions to that, which involved a certain amount of distress and concern about how that should influence his medical care going forward," Pyeritz says.
Pyeritz adds that his students' choice to examine their own data — let alone share it with the class — was their own. "I made it quite clear that this was not obligatory and didn't want to have them feel any duress for not having participated," he says.
DTC for docs-to-be
In an effort to educate doctors-in-training in counseling their patients — who are increasingly equipped with their personal genetic information — many medical schools are beginning to incorporate personal genomics into their curricula. Mark Boguski, associate professor at Harvard Medical School, led the charge in October 2009 as the first instructor to offer pathology residents at Boston's Beth Israel Deaconess Medical Center the opportunity to analyze their personal genotype data through a collaboration with the personal genetic testing company Navigenics.
But not every medical school is ready to heed the call of this burgeoning industry. And given the murky state of DTC genetic testing regulation, it is no wonder that on some campuses, the legal, social, and ethical risks appear to outweigh the potential benefits.
Considering whether to give first-year medical and doctoral students the option to analyze their own genetic scans was just one of several debates that caused officials at the Stanford University School of Medicine to delay offering an elective course on genomics and personalized medicine for a year. Stuart Kim, professor of developmental biology and genetics there, says that the school formed a 27-member task force composed of physicians, lawyers, law professors, ethicists, and deans to evaluate the merits of the class. At hand was the lofty task of developing a course curriculum that could eke out the maximum educational benefit, while incurring the fewest ethical risks possible. "People were unbelievably animated during this whole process," Kim says.
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The task force approved the course, which was offered for the first time in June as part of the school's summer term, under the condition that several precautionary measures be put in place. First and foremost, the course was offered strictly as an elective. The university stipulated that participating students had to "receive an adequate baseline education prior to deciding whether to have the genotyping done." Genetic testing — offered at a discounted rate through either Navigenics or 23andMe — was optional, and students were given the choice to analyze publicly available data rather than their own; course instructors were "blinded" to the students' decisions. Though both firms offer an educational rate, the cost of which Stanford covered, the task force decided to charge students a $99 "co-pay" as a sort of last-ditch effort to abate the potential lure of a "free test." Finally, Stanford pledged to make counseling accessible to any student seeking advice or support.
Kim says that the 50-spot course was oversubscribed, and that more than 20 students chose to audit the class. During the initial two lectures, the first of which detailed informed consent, those faculty members who were the "staunchest people who did not want the course to happen … made their arguments for [students] not getting genotyped," Kim says.
Though he has no way of knowing whether any of the students elected to be genotyped, Kim has some indication of the students' interest in the genotyping services. While those who chose to send their samples to Navigenics were able to obtain their kits directly from the company website, students who showed interest in subscribing to 23andMe's services had to pick up a promotional card from one of the course instructors. "We passed out 45 cards," Kim says. "They could've taken it and thrown it away. But if they didn't, then almost everybody got genotyped."
Students' decisions aside, it is no small feat to generate such spirited participation in an optional course during the summer, Kim says. "It's been electric," he adds.
Meanwhile, over at SUNY Upstate Medical University, associate professor of biochemistry and molecular biology Robert West has taken a different approach. He incorporated a novel genotyping component within the personalized medicine elective he offers — "though not without risk," he says. West provides the students that enroll in his course the password to his personal 23andMe account so they can examine his results and counsel him as though he were a patient. "Students are required to honor the confidentiality of the 'patient' in accordance with their training as budding physicians," West says. "The cost of DTC genetic testing is a formidable barrier to medical students already incurring huge amounts of debt," he adds, arguing that his unorthodox approach is the "quickest and surest way to guarantee that each student is exposed to the type of information a future patient may confront them with."
West says that courses like his provide firsthand experience with personal genomics, but aren't enough. He suggests that "by training incoming students in genomic medicine, information ought to quickly penetrate the academic hierarchy via student shadowing of physicians, clinical rotations, and residency training."
"I'd like to see this introduced in our genetics course in the first year, and then [give] the students the opportunity to revisit it in my course in the fourth year," adds UPenn's Pyeritz. "Medical genetics should be part of the curriculum from beginning to end."
To that end, Pyeritz proposes that instructors who are pioneering the introduction of personal genomics education in medical schools should "get together and share war stories to try to understand who's doing what, what's working, what isn't, [and] when's the best time to offer this." Pyeritz will offer his course, which he says received many positive reviews, again next February. SUNY Upstate's West will also teach his elective again. In a July 2010 American Journal of Clinical Pathology article, Harvard's Boguski and colleagues issued "a call to action" to train pathology residents in personal genomics. Whether the Stanford course is offered again depends largely on student and faculty feedback, Kim says.
According to Kim, the Stanford elective is in and of itself a "really big experiment. ... They're both doctors and patients; they're trying to learn how to be doctors that can describe this stuff and give the [best] information, but now they're patients and they're [learning] the information," he says. At the end of the day, he says, patients can purchase "all the genetic information you want, but it's not going to help when you go to your doctor because he or she's not trained to really do anything about it."