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Genetic Gap: It may be a hot new field, but few are being trained in it
Sunday, July 09, 2000 By Byron Spice, Science Editor, Post-Gazette
Once the new tools of genetic medicine become available, it may be difficult at first to find the artisans who know how to use them.
The reason: Right now, most of the nation's doctors and nurses have only a smattering of genetic knowledge.
Dr. Charles Wilson, a director of the Institute for the Future, a Menlo Park, Calif., think tank, said health care providers generally are ill-prepared for post-genomic medicine. Most received little training in genetics while they were in medical school, "and even students going through at the present time are getting less than optimal training."
Dr. Francis Collins, director of the National Human Genome Research Institute, is even more outspoken. "Most physicians are completely uneducated on genetics," Collins said. "We have a huge challenge ahead of us to prepare these people to be bioinformaticians" -- doctors who can read and interpret genetic test results for patients.
Besides a knowledge deficit among doctors, there also is a sheer physical shortage of genetic counselors, said Wilson, former chief of neurosurgery at the University of California, San Francisco. The National Society of Genetic Counselors counts just 1,700 members nationwide.
"Everyone expresses enthusiasm about the Genome Project and expects it will make counselors more important," said Darcy Thull, a genetic counselor at Allegheny General Hospital. "But institutions just look at counseling as a cost."
A single counseling session might require an hour or more with the patient, Thull said. But it also usually requires several hours of preparation, such as finding and confirming medical records and tests. Then there are hours of follow-up work, as well as additional counseling sessions if the patient chooses to be tested.
For the amount of work involved, "we don't generate huge revenues," Thull said, which makes counselors uneasy during an era of downsizing and cutbacks in health care.
The same problem applies to geneticists, said Dr. Reed Pyeritz, a medical geneticist at Allegheny General. "Genetics, as currently practiced, is very cognitive, not procedure-based." And that means health plans are not generous with reimbursements. Not surprisingly, then, just 1,100 board-certified geneticists are in practice today and only 50 are in the training pipeline, he noted.
Because of all these warning signs, the American Medical Association, the American Nursing Association and the National Human Genome Research Institute have formed a coalition to boost genetic training of health professionals.
But the group must deal with an often indifferent professional community. Continuing education courses on genetics are often poorly attended by physicians. In February, a reproductive genetics course held in Harrisburg attracted two physicians from the entire state.
Many physicians maintain that they don't see enough genetic diseases in their practice to make such training worthwhile, Collins said.
"I disagree. We know most diseases have a genetic component," he continued. But "at the moment, that's an academic statement of no particular use to a primary care practitioner. Busy practitioners are having a hard time seeing [training in genetics] as a priority."
"This is going to require a real revolution in medical education," said Robert Eckhardt, a developmental geneticist in Penn State University's College of Health and Human Development. Most physicians simply aren't prepared to interpret the massive amount of genetic information that soon will be available.
"I honestly think there's a possibility for a new profession," Eckhardt said. As he envisions it, a "bioinformation specialist" would be a non-physician schooled in handling large amounts of genomic information who would make predictions about individual patients. "This could be consumer-driven," he added, with patients -- or their attorneys -- insisting on genetic profiling as part of the medical management for certain disorders.
And patients can play a critical role in educating their doctors.
Larry Sutton, who lives near Ebensburg, has von Hippel Lindau Disease, a genetic condition that results in the abnormal growth of blood vessels and tumors. It's the sort of disease that requires continual monitoring to prevent dangerous complications, and Sutton has taken care to make sure his doctor, part of one of Highmark Blue Cross and Blue Shield's managed care plans, has plenty of information about his disease and why he needs certain tests.
"It matters how you approach the physicians," said Sutton, chairman of the Western Pennsylvania chapter of the VHL Family Alliance, a patient support organization. "Managed care is new for most people and for most physicians. Some do it better than others."
Sutton, 49, director of finance for the Diocese of Altoona, said he hasn't had any problems getting care through his doctor. Prevention, he noted, is much cheaper than the alternative for von Hippel Lindau patients. Growths in the eye can blind people if not found and removed promptly. Adrenal gland tumors -- pheochromocytomas, or pheos -- can cause blood pressure to spike dangerously. Tumors composed of tangled blood vessels can grow on the spine, with crippling results.
Sutton had a pheo removed 15 years ago, a spinal tumor removed last year.
"In both cases, I avoided problems through early screening," he said.
Several extended families in Western Pennsylvania are affected by von Hippel Lindau and not everyone has been as skilled as Sutton in persuading physicians to test them. MRI scans for spinal tumors, CAT scans for adrenal tumors, 24-hour urinalysis to screen for kidney cancers, and eye examinations are among the tests that von Hippel Lindau patients require every year or two, even though they have no disease symptoms.
And there are still doctors unacquainted with the acute signs of the disease. Last year, a 12-year-old relative of Sutton's was taken to a rural clinic for treatment of a severe headache. "They were just throwing Tylenol at him."
It wasn't until the boy was finally sent to the University of Pittsburgh that he was diagnosed with a "pheo," which was flooding his system with adrenaline.
"The headaches" -- a sign of severe high blood pressure -- "should have been a tip-off in an area where so many people have a tendency to VHL," Sutton said.
For now, though, patients need to take the initiative to find out about their condition and to relay information from their specialists to their primary care physicians.
"You really need to go in armed with knowledge," Sutton advised.
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