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DNA Diagnostics: Do Docs Know What’s Up?

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Primary-care physicians could be the DNA diagnostics industry’s biggest obstacle. But several initiatives are underway to keep that from happening.

By Kirell Lakhman

The DNA-based diagnostics market will grow by 50 percent and reach $3.7 billion in four years, according to industry forecasts. And as drug developers wait 15 years for genomics-based therapeutics to come along, diagnostics culled from genomic data will have taken center stage in just five — welcome news to an industry staring at a parched product pipeline.

But the molecular diagnostics sector faces a hurdle: the unenlightened primary-care physician.

An increasing number of studies show that most general practitioners are woefully ignorant of basic genomics, a trend that has led some in the industry to worry that newly launched diagnostics will be robbed of the critical market toeholds all new products need. If physicians don’t know enough about molecular diagnostics, goes the fret, how will they know to prescribe a visit to Impath or Quest? And what incentive will Quest or Impath have to invest in a technology that is slow to start?

Will primary-care physicians, the gatekeepers of modern health care in many countries, know enough even to consider genomics tools, let alone discuss the options with patients? If they don’t, whose responsibility will it be to educate doctors and MDs-to-be? Or is the gulf between basic genomic research and the prescription pad too wide to have any effect on genomic technology firms?

A New Twist on a Common Challenge

To be sure, since the human genome was sequenced a little more than a year ago, more and more general-practice journals have started noticing genomics. What’s more, the challenges awaiting molecular diagnostics are not unlike those faced by similarly novel discoveries. Immunoassays and monoclonal antibodies, for example, were so unique at the time of their approval that special efforts were made to ensure that physicians, especially general practitioners, understood their utility.

But genomics tends to stop that argument in its tracks: Few technologies can rival the spotlight that genomics has captured, and fewer still have racked up as much investment capital and drawn so much media attention as the sequencing of the human genome.

Yet research continues to point to a chasm of professional ignorance.

In one recent study, general practitioners in Australia rated their knowledge of genetics as “extremely poor” and admitted that their patients probably know more about it than they do. “The patients come in and I feel a little in the dark about [molecular diagnostics] because I have actually been given no information,” said one GP who took part in the study.

Furthermore, the University of Melbourne study researchers found that most of these GPs rarely ordered genetic tests: 60 percent admitted they never or almost never ordered them, and when they did they were often unprepared to deal constructively with the results. The study, published in the March/April issue of the journal Genetics in Medicine, also shows that these findings are echoed in North America.

“There is a growing awareness that in the future ... genomic medicine will be practiced by primary-care [physicians],” Alan Guttmacher, clinical advisor to Francis Collins at the National Human Genome Research Institute, told Genome Technology in a recent interview.

Guttmacher points to a five-year window within which molecular diagnostics will likely take off. Genetic-based diagnostics “exist but they’re relatively few right now,” he says. “Yet we can see this tsunami coming at us and in a few years suddenly they’ll be quite broad and quite numerous.”

He believes that studies like the one published in Genetics in Medicine eventually will lead to greater physician education. “I’m optimistic,” he says. “I don’t think that everyone will be ready when the tsunami hits but there is a trend that suggests that things won’t be as bleak as we might have thought a few years ago. More and more people are interested in learning this stuff.”

Physicians Get Focused

The American Academy of Family Physicians, based in Leawood, Kan., believes that genetics and genomics will play a big role in primary care and family practice. To that end, the group plans to direct an annual “clinical focus” on genetics or genomics.

An AAFP annual clinical focus hones in on one particular topic that is taught through a variety of media and applications. Genetics/genomics will likely be the topic of a clinical focus in 2004, according to Norman Kahn, VP of science and education at the AAFP. He says he asked Francis Collins, director of the National Human Genome Research Institute, to be a keynote speaker at the academy’s 1999 annual meeting.

“It’s not immediately clear how the promise of the genome sequencing is going to translate into primary-care practice,” Kahn says. “Nonetheless, we want to ensure that the nation’s family physicians are up to speed in this area.”

Groups like the AAFP have their hands full: Roughly 312,000 physicians in the US qualify as PCPs, or primary-care physicians, a definition that comprises family practice, general practice, internal medicine, pediatrics, and in some cases obstetricians and gynecologists, according to the American Medical Association.

Guttmacher says initiatives like AAFP’s are proof that many primary-care physicians and their member organizations “are becoming aware that genetics is really important to their practice in the near future. They’re really working hard to get their members educated,” he says.

Training the Caretakers

Scott Rakestraw, an official at Orchid BioSciences, agrees that it is an education issue, and one that will have a very real impact on the rate at which these technologies are adopted.

“The challenge is to come up with tangible products and services that don’t just report the value of a lab test, but rather tell the physicians how they might use the data” to help patients, says Rakestraw, who is executive director of Orchid’s GeneShield business unit. “It’s a challenge that the industry faces, but it’s an ever-moving target. Five years from now you and I are going to be having this conversation about the next phase, and what can be done to educate physicians about that next phase.”

Genomics is also filtering down to the medical schools, albeit slowly. The medical school of the University of Vermont, for example, has retooled its curriculum from the ground up and now offers a genetic track that runs through all four years of its MD program. That’s just as well: NHGRI’s Guttmacher was the school’s director for genetics at one time.

UVM’s newly minted MDs will head off into the world with a better understanding of genetics and genomics than most of their peers. Why is that important for molecular diagnostics? On average, more than 57 percent of graduates from UVM’s medical school during the past five years went on to practice primary care, according to a university spokeswoman.

The AAFP, meanwhile, has helped launch a program designed to teach genetics and genomics to a variety of medical-school faculty. Co-funded by AAFP, NHGRI, and the US Health Resources and Services Administration, among others, the program, Genetics in Primary Care, has organized 20 national administrative teams to bring genetics and genomics curricula to faculty teaching family medicine.

“The idea is to prepare faculty in primary care to incorporate the genetic revolution into the teaching of medical students and residents,” says AAFP’s Kahn.

Anne Bailey, VP for diagnostics at Variagenics, believes that while “general practitioners are not up to date” with genomic research and that there are “severe limitations” to medical-school curricula, the real problem lies with genetic counseling.

“That’s what will have a big impact on molecular diagnostics,” she cautioned. “Physicians do need some more knowledge in that area. But I don’t think it will happen anytime soon, from what I’m seeing.”

The Ignorant Internist

Bailey insists she’s not unmoved by the argument that an unenlightened PCP corps threatens the speed with which molecular diagnostics take off. Furthermore, general knowledge is important only to one of two kinds of molecular diagnostics that will emerge from genomic research.

The first group, which comprises tests for inherited disease, predisposition, and prenatal screening, “definitely [needs] genetic counseling for interpretation to the physician and the individual,” says Paul Kidwell, a spokesperson for Variagenics. The other group, consisting of new molecular tests for definitive diagnosis, is a potential “major growth area” but will not benefit from genetic counseling, he adds.

“These tests will face the same challenge that any new test faces in market acceptance,” Kidwell stresses. “The medical need has to be demonstrated with outcome benefits, and the test interpretation has to be simple. Physicians cannot be expected to become ‘DNA jocks,’ nor would a ‘DNA jock’ [want] to become a physician.”

Bailey says she has witnessed firsthand the initial efforts made by certain arms of biotech to help edify the PCP. She recounts attending a meeting last year entitled Genomics 101: What the Practicing Physician Needs to Know about the Genetics Revolution. The meeting, which took place in Chicago, was jointly sponsored by the Cambridge Healthtech Institute and the University of Iowa College of Medicine.

Like Bailey, Richard Daly, president and CEO of Visible Genetics, expounds on Guttmacher’s pronouncement that the industry eventually will come to its own rescue and bring user-friendliness to complex diagnostics.

“My analogy is a car: doctors want to drive but they don’t want to know what’s under the hood,” says Daly, whose company currently markets an FDA-approved HIV genotyping test. “Our product boils down an incredibly complex technology to a one-page report that you can read in 20 seconds. I think that’s what’s going to have to happen.”

But Visible Genetics’ product targets specialists who focus on one area and thus one diagnostic. Daly waves off that argument. “Maybe, but [these tests] are going to be binary. Either you have a BRCA1 or 2 gene ... or you don’t,” he says.

“It’s a process we have to go through whenever we introduce a new technology. It behooves the industry to make those tools and education materials available to the clinicians,” says Jerry Williamson, who heads the molecular diagnostics business at Pyrosequencing. “I think the industry has a responsibility to its shareholders to do this.”

NHGRI’s Guttmacher agrees: “I think it would be wonderful if industry contributed to this financially in various ways. Creating or supporting programs [to help educate PCPs] would be extremely useful. Even from a business bottom line I think it’s useful because if these tools are going to be used, they’re going to have to be proved effective,” he says. “And they’re only going to be proved effective if people are fairly knowledgeable about how to use them.”

 

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