Future MDs will put their DNA to the test

By Carolyn Y. Johnson
Globe Staff / October 5, 2009

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A group of doctors training at Beth Israel Deaconess Medical Center started a unique program last week to learn about genetic tests marketed to consumers, placing them in the vanguard of preparations to guide patients through the dawning Wild West age of personalized medicine.

Part of the instruction will come from having the young physicians test their own DNA in search of genes linked to various illnesses.

Private companies have begun offering a flurry of tests that purport to tell patients their genetic risks, for everything from Parkinson’s disease to obesity. Tests that can be ordered over the Internet need only a simple cheek swab to hunt for gene variations associated with particular diseases.

Ultimately, genetic tests offer the promise of dramatically improving and personalizing health care - guiding doctors to therapies tailored to a person’s genetic idiosyncrasies, or allowing patients to take preventive steps based on risks that lurk in their genes.

But today, the results can be hard to interpret and can mislead patients - and scientific understanding of the genetics of common diseases is still evolving - so the tests have drawn concern and opposition from much of the medical establishment. As the science races forward, in the lab and into the marketplace, doctors are realizing they need to be ready to assess the information and assist their patients.

“We can bury our head in the sand and pretend it’s not happening, we can suppress the information and tell patients not to go near it, or we can figure out strategies to play a constructive role as this new era of genomic and personalized medicine rolls out,’’ said Dr. Mark Boguski, an associate professor of pathology at Harvard Medical School who will be one of the instructors of the class. “That’s what we’re trying to do: prepare our trainees - not because the technology is ready for prime time today, but people are using it, and it’s clear it’s going to play a role in the future.’’

Doctors in their second and final years of pathology residency training will take the class - attending lectures and researching the science behind the tests. If they choose, they can look at their own test results, submitting a sample to the genetic testing company Navigenics.

Boguski said the inspiration for the class came from his own experience, when he used tests from three companies to learn more about his DNA and see what information the companies provided about various diseases and conditions. Examining his own data, he said, helped make the experience more immediate.

“I’m curious to see what’s there,’’ said Dr. Thomas Gage, a resident who said he would participate in the testing. “A lot of this stuff can be interpreted too easily sometimes. . . . So I think that’s where you have to be a little bit skeptical. Still, it’s information.’’

The program is being offered to pathologists because they are the specialists who perform and interpret lab tests.

“This has always been our role: blood tests, cultures, urine, those samples come to pathology, where the test is done,’’ said Dr. Jeffrey Saffitz, chairman of the pathology department at Beth Israel Deaconess. “We see this personalized genomic analysis as a modern extension of our traditional role.’’

But the program is just a starting point in what will have to be an all-out effort to give medical professionals a good grounding in the use of genetics.

Dr. W. Gregory Feero, special adviser to the director of the National Human Genome Research Institute, said efforts are being made to increase genetic competency among medical professionals, including nurses, physician assistants, and specialists.

Many medical schools include genetics in their curriculum, he said, but the subject tends to drop out of the discussion as students progress from the “book years’’ to clinical practice.

The American College of Medical Genetics, a professional organization, has issued a cautionary statement about direct-to-consumer genetic testing. Much of the concern stems from consumers’ expectations, which have been set by the notion that a particular gene is responsible for a trait or a disease - determining eye color, for example, or whether a person has cystic fibrosis. But for common diseases, it appears that any single variant of a gene elevates risk only slightly - and the likelihood of falling ill is influenced by other factors, such as environment, lifestyle, and other genes that have yet to be identified. There is no evidence yet that finding out such information results in better outcomes, and great worry among physicians is that consumers who seek such information without medical advice may misinterpret their results.

Still, the organization’s president, Dr. Bruce Korf, said efforts like the one at Beth Israel Deaconess are essential to give doctors the ability to evaluate genetics information, even though most of it is not useful now.

“My personal view is we have relied way too much on lectures and not enough on innovative models based on case teaching or other simulations that are much more real than . . . hearing someone talk about something,’’ he said.

Dr. Joel Hirschhorn, an associate professor of genetics at Harvard Medical School who co-teaches a three-week genetics curriculum, said science is moving so fast that fourth-year medical students wouldn’t have been taught what this year’s first-year students will learn, so efforts like the one at Beth Israel Deaconess are important.

Carolyn Y. Johnson can be reached at