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When Class Gets Personal

Students Examine Their Genomes in Innovative Course

By Anna Miller | Photography by Holger Thoss

Nick Hazen’s computer screen stared back at him like a reflection in a funhouse mirror. Laid out in colorful charts, and enhanced through explanatory slides and expert quotations, it’s a visage of someone both familiar and unrecognizable.

Tim McCaffrey discusses the implications of personalized genomic
Tim McCaffrey, Ph.D., discusses the implications of personalized genomic.

According to the graphics, Hazen was a 30-year-old blue-eyed man of European descent who could digest lactose. That much he already knew. But he was also described as a person with a low risk for heart disease and an elevated risk for Alzheimer’s disease. That bit — and much more — was news.

Hazen, a second-year medical student at the George Washington University School of Medicine and Health Sciences (SMHS), had sent away a swab of his saliva several weeks earlier to 23andMe, a company that analyzes DNA for disease risk, drug resistance, and ancestry. When the results popped into his inbox, his gene-deep journey to self-discovery began.

But unlike most of the company’s customers, Hazen’s pursuit wasn’t motivated by fear, marriage, or a genetic counselor’s nudging. Like several dozen other GW medical students, Hazen was preparing for class.

Tim McCaffrey, Ph.D., professor of Medicine and director of the Division of Genomic Medicine at SMHS, calls pushing the curricular envelope “academic innovation.” He knows his course, “GNMX201: Personalized Genomics: An Exploration into the Heritable Elements of Disease,” is unlike any other.

“I’ve never taught a course like this before; and as a matter of fact, there are only two or three medical schools around the country that are teaching similar courses,” he tells his students during the first lecture. “What’s different about it is that it’s interactive — you can learn things about yourself that you really couldn’t in other types of courses.”

That’s for sure. The course, which was first offered in the summer of 2011, gives each student the chance to have his or her genetic makeup, or genome, scanned by 23andMe for more than one million variations in DNA called Single Nucleotide Polymorphisms (SNPs). The company compares the individual’s outcomes with a database of SNPs to predict the relative likelihood of developing more than 100 diseases. Their results can be viewed by logging into a personalized page on the 23andMe website.

McCaffrey’s students can opt to work with an anonymous set of DNA. However, most — if not all — use their own. The program not only reveals personal risk for disease, it also teaches the students about each condition through slides, video explanations, and a physician’s perspective. The website is satisfying even “for those of us who are really super wonky,” says McCaffrey, because it describes precisely which gene is affected by the variation, where it is located in the genome, and how it’s connected with disease. For the skeptical type, 23andMe links to the studies that support its conclusions and updates users’ results as new research is released. “It’s a hypochondriac’s dream,” McCaffrey adds.

It’s also a professor’s dream: the ability to personalize lessons that would otherwise be hypothetical. Using the students’ experiences with the program as the backdrop makes class discussions on DNA sequencing, guest lectures about the statistical methods behind risk assessment, and readings regarding the ethical, legal, and social issues surrounding genetic analysis all come to life. McCaffrey records each lecture so that his students — some of whom travel internationally pursuing research projects through the Gill Fellowship Program, which awards medical students a summer stipend for conducting research with faculty members — can watch them from around the world or refer to them from their homes.

As the syllabus promises, “By exploring their own genome and heritable disease risk … the student will become familiar with the terminology, the methods, the proper interpretation, as well as the strengths and weaknesses of this approach. Because patients are now obtaining this information on their own … this is an eminently practical course that will foster an informed and responsive physician.”

McCaffrey presumes that most students are drawn to his class, an elective, out of curiosity. “Whether we like it or not, we all are suspicious of what we are at risk for,” he says. “Tapping into that curiosity helps us engage students in learning about the genetic contribution to disease.”

For Hazen, whose family has a history of heart attacks and strokes, those suspicions were related to his heart. But 23andMe had different hunches, illustrating a key concept of the course: there’s a difference between family history and heredity.

“Up until now, family history has pretty much been taken as indicative of there being some heritable predisposition involved in a particular disease or condition,” says McCaffrey. “We know now that a familial risk and genetic inheritance are not identical concepts.”

GNMX201 also stresses the important difference between disease risk and diagnosis. McCaffrey, for example, is more than two times as likely as the average person to develop Crohn’s disease, according to his 23andMe results. But with a risk of 1.2 percent, his chances are still small.

Whether or not an elevated risk progresses into an actual diagnosis depends, to varying degrees, on both nature and nurture. Some diseases, namely Alzheimer’s and Parkinson’s, however, are believed to be almost exclusively nature — so much so that a consumer’s risk for them is guarded by an extra “lock” on 23andMe.

“[Unlocking the information] is a decision you should really think about because as far as we know, there’s almost nothing you can do about [those diseases],” says McCaffrey. “I tell the students ‘don’t do it, don’t look. You have nothing to gain by it. If it’s going to affect you at 50 or 60 years old, why would you want to worry about it now when it might well be cured by then?”

Fortunately, dead-end information is rare in personalized genomics. Most of what’s gained is “actionable,” says McCaffrey, and can be used to influence behavior change, initiate doctor-patient discussions, or inform medication dosages.

Personalized genomics is, by its very definition, personal. But for students who take GNMX201, its real value is not what they learn about themselves, but what they learn about patient care.

“People are doing this — and they’re doing it without their physicians,” says McCaffrey. “Then, they go to their physician, and the physician doesn’t have a clue what they’re talking about because they were trained 30 years ago. They just don’t know how to deal with it.”

But with the help of courses like McCaffrey’s, the next generation of physicians will know how to deal with it. After all, they will have gone through it themselves.

“This course is not required, and it won’t be on the boards,” says Hazen. “But it’s a perfect example of how GW does a good job preparing us for life after medical school: It’s offered for the purpose of making us better physicians.”

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