December 2009 - By the time Joan Scott greeted the audience of “Genetic Medicine for the Healthcare Provider,” more than a dozen speakers – among them, Richard Weinshilboum of The Mayo Clinic and Harvard’s Joseph Loscalzo – had spent a day and a half beating the drum about genetics percolating up into patient care. All agreed that an “individualized” view of health and disease, born of the Human Genome Project, is fundamentally transforming the way medicine is practiced.
Scott, now director of the Genetics and Public Policy Center in Washington, DC, reflexively took the temps of the 167 doctors, nurses and counselors in attendance. What, she asked, was their knee-jerk response to the dizzying progress being made in genetics, one that is exponentially increasing the amount and complexity of patient information available: “Does it make you want to run and hide? Retire? Get your own genome done? Start your own genomics company? Conduct research to fill the information gaps? Support policy to stimulate invention while protecting consumers?”
To those primary health care providers who, grudgingly or not, find themselves on the front lines of a genomic revolution that is shaping life now just as profoundly as the Industrial Revolution did in the 19th century world, Scott argued that all were appropriate reactions.
Not appropriate, however, is reactive medicine, trial-and-error medicine or so-called “average” medicine meant for the masses – especially in light of the fact that virtually every human ailment (has some genetic basis. As more and more genetic contributions to complex human diseases are identified, the prospect of genetic testing for predisposition to disease, molecular diagnosis, prognosis and response to treatment is becoming a reality.
Designed to highlight the range of new discoveries in genetic medicine – some of which can be used now by the likes of pediatricians, internists and nurse practitioners – this Continuing Medical Education course was offered for credit to healthcare providers throughout the region on September 10-11 by the Johns Hopkins McKusick-Nathans Institute of Genetic Medicine.
“Genetic medicine is going to impact all patients,” said course organizer Adel Gilbert, co-director of the postdoctoral clinical genetics training program at Johns Hopkins Medicine. “It’s no longer limited to the rare and the unusual disorders and diseases, no longer is confined to a clinic tucked away in a corner of an academic center.
“It’s the responsibility of healthcare providers to take the time and energy to educate themselves, and it’s our responsibility to make educational resources like this available.”
Whole genome sequencing soon will become standard of care, predicted David Valle, M.D., Henry J. Knott Professor and Director of the McKusick-Nathans Institute of Genetic Medicine. His mantra: Sequence once, read often, and understand it better each time.
Health care practitioners who traditionally rely on patient and family histories to inform diagnoses and treatments soon will be expected to grapple with 3,000,000,000 DNA base pairs of data for everyone in their care. This novel biological basis of knowing patients illustrates that each individual has his or her own disease; it emphasizes the importance of asking why does this patient have this illness at this time, and what treatment is best for this individual?
Les Biesecker, M.D. Chief and Senior Investigator, National Human Genome Research Institute, observed that “sequencing throughput has gone through the roof.” Compared to back in the “old days” of 2007, when it took a decade to sequence one genome, 60 to 70 mammalian genomes now are sequenced annually, he said, adding that sequencing is less expensive and more efficient because of a confluence of advances.
“There is huge promise for the clinical application of whole genome sequencing – but not today,” he cautioned.
If primary care physicians encountered patients whose genomes were completely characterized, they’d surely have a lot more questions at this point than they would answers, Biesecker said, such as: What is a disease gene? What DNA variants are medically significant and in whom and under what circumstances?
Already, some patients are asking their physicians to interpret and act on the results of direct-to-consumer personal genetics tests marketed by a host of private companies -- DNA Direct, Navigenics and 23andMe, for instance – which profess a dedication to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools.
“I like that these tests are out there now,” Valle told the audience. “Not for their medical value, but because they present an opportunity for us to help educate the public and physicians. But do they have medical value now? Not much.”
Joseph D. McInerney agreed. The executive director of the National Coalition for Health Professional Education in Genetics said during his presentation about Web use by physicians and patients that he sees a benefit when consumers swab their own cells and send them off to labs for analysis of ancestry as well as so-called “recreational traits” such as slow v. fast-twitch muscle fibers and wet or dry ear wax. Even if patients present their primary care docs with data that is inaccurate or, at best, highly nuanced, it’s an important impetus for non-genetics health professionals to learn about genetics.
The Web can and will play a vital role in helping primary care docs to begin practicing genetic medicine, McInerney said, so long as they can sort through the tsunami of information being generated. Toward that end, his presentation was punctuated by an interactive half-hour break called “Clinical Questions and Coffee: The Genetics Internet Café.” Fueled by coffee and chocolate, attendees milled around a host of web-savvy genetic counselors from Johns Hopkins who used computers as they fielded questions such as “A patient in my practice has a brother with colon cancer . . . a sister with breast cancer. What do I do with that information?”
The counselors showed snippets of sites that provide accurate information about the inheritance of common, complex diseases as well as advised primary care practitioners about when and how to consult with genetic professionals.
The reality is that since all diseases have a genetic basis, there simply aren’t genetics professionals enough – anywhere – to address all the related issues and questions, Adel Gilbert said. As a result, primary care practitioners soon will find themselves in the genetics hot seat, if they aren’t there already.
“My daughter, who’s a general pediatrician, says patients come in and hand her print outs from 23andMe and expect individualized therapy,” Richard Weinshilboum said during a lecture about pharmacogenetics for which he defined the clinical goal as “the right drug at the right time in the right dose for every person.”
Michael J. Mininsohn M.D., an attendee who practices internal medicine at St. Joseph Medical Center in Towson, said the continuing education course helped him to start filling in the genetics gap that exists for a 1983 med school grad: “In terms of patients who have harder to solve problems, there’s this whole subject of genetics beneath the surface of everything. I’m curious as to what I might be missing in some patients who have more mysterious issues.”
Curiosity is also what compelled Margery Gruen Myers M.D., recently retired from a family practice in Washington, D.C., to attend the course, even though it involved two hours of white-knuckle driving on two beltways snarled with traffic because of rain.
“I always have been interested in genetics,” said Myers who started practicing medicine in 1970. “I went to Harvard back when Watson got the Nobel Prize. Then I lived in Laos, where I practiced pediatrics, and then more recently was at Walter Reed, trying all the while to practice individualized medicine.
“I’m finding this conference fascinating. I realize there’s a lot going on that I don’t have time to keep up with. I have had patients all along with genetic diseases. I even had an ‘Aha’ moment today during the lecture on “The Battle Between You and Your Bugs”: One of my patients has a puzzling lung infection and I had not thought of a genetic component. I intend to call her about it when I get home.”
--by Maryalice Yakutchik