Why you need to start thinking about 'new genetics'
By Deborah Gesensway
SAN FRANCISCO—In their campaign to convince primary care physicians that genetics is at the core of patient care, medical geneticists are discovering that nothing works better than fear.
Consider the following story, which was told at the recent annual meeting of the Society for General Internal Medicine (SGIM): In 1995, a 20-year-old woman died of hereditary nonpolyposis colorectal cancer. The patient's mother had repeatedly expressed concern about a family history of colon cancer and asked for stepped-up surveillance, but the patient's physician ignored her. The patient's family sued the doctor and the case was settled out of court in the plaintiff's favor.
Speakers at the meeting used the story as an example of how internists need to start thinking about how to incorporate knowledge about what is being called the "new genetics" into their practices.
P. Preston Reynolds, FACP, associate professor of medicine and history at Johns Hopkins University School of Medicine in Baltimore, said that physicians need to realize that genetics is quickly becoming an essential part of primary care. She pointed to the above anecdote as an example of how the legal system is beginning to recognize genetics as part of the standard of care.
In addition, organized medicine is beginning to consider genetic screening as central to providing primary care. For example, in 1997, the National Institutes of Health (NIH) released a guideline recommending genetic screening for carriers of the genetic mutations that cause cystic fibrosis. The guideline also suggests that doctors offer screening to all pregnant women and to all couples who are considering reproduction.
Patient expectations about genetics are also helping to drive the change in the standard of care. According to a study in the January issue of Academic Medicine by Francis S. Collins, MD, PhD, director of the National Human Genome Research Institute, most Americans believe that their physicians can interpret the results of genetic tests and will know if they are at risk for developing an inherited disease.
The reality, however, is that providers are not prepared to meet those expectations. For example, a 1995 Johns Hopkins study still considered relevant found that as many as 30% of the doctors who ordered a genetic test for DNA-based colon cancer susceptibility incorrectly interpreted the test results.
While patients may think that their doctors know how to read a genetic pedigree, most patients do not request specific genetic tests and procedures. As a result, many primary care physicians say that getting up to speed on clinical genetics isn't a priority.
Geneticists predicted, for example, that when the breast cancer gene was discovered, women everywhere would want to be tested for it. At the SGIM meeting, however, Reed E. Pyeritz, FACP, professor of human genetics, medicine and pediatrics at Allegheny General Hospital in Pittsburgh, noted that fewer than half the women who have a reasonable medical indication for BRCA1/2 testing have actually undergone the testing.
Similarly, when the gene for Huntington's disease was first discovered, geneticists predicted that two-thirds of individuals with a family history would want to be tested. Dr. Pyreritz said that only about 15% have actually done so.
As a result, convincing internists that genetics is poised to become an essential element of primary care is a hard sell. Educators say that most internists are already hard pressed to keep up with the latest developments in cardiac care, the newest drugs for dementia and the latest protocols for hormone replacement, HIV and ethical decision-making. Staying abreast of the Human Genome Project, BRCA1/2, mutations, susceptibilities, pedigrees and all the other manifestations and terminology of the "new genetics," they say, is just not realistic.
"When we have put genetics into College programs, there has been a deafening silence in terms of response," explained Herbert S. Waxman, FACP, the College's Senior Vice President for Education. "There's a gap at this point between what practicing physicians perceive they need to know and what the geneticists think they need to know."
As promising uses of genetics become reality, physicians will likely find new reasons to change their views. Speakers at the SGIM meeting, for instance, said that genetics may help solve controversial issues, such as when women should begin screening for breast cancer.
"It is very conceivable that within the next few years, some women will be identified as having significant enough risk factors that they should begin mammography on an annual basis at the age of 40, and maybe earlier," said Alan Guttmacher, MD, a pediatrician and medical geneticist who is special assistant to the director for clinical affairs at the National Human Genome Research Institute. "There may be other women who, because of lower risk factors, should not begin mammography until they are in their 50s."
This preventive use of genetics is now the main focus of physicians who devote their practices to clinical genetics. In addition to making determinations about screening, as is the case with the BRCA1/2 mutation, studies are underway to research ways of treating—or staving off—the disease in high-risk individuals, explained Maren T. Scheuner, ACP-ASIM Member, an internist who directs the GENRisk program at Cedars-Sinai Medical Center in Los Angeles.
"Genetics already has the potential for helping primary care physicians individualize disease prevention strategies for their patients," Dr. Guttmacher said. And in the not-too-distant future—given the vast amounts of money and effort pharmaceutical companies are investing in the field of "pharmacogenetics"—doctors who have a knowledge of clinical genetics will be able to individualize treatments for patients carrying specific genes.
Speakers at the SGIM meeting said that such examples illustrate how physicians will have to adjust. While "old genetics" dealt with relatively rare diseases like Down's syndrome, cystic fibrosis and sickle cell anemia, "new genetics" refers to common conditions like heart disease, cancer, stroke, dementia, infectious disease—any condition where having a gene mutation predisposes a person to the condition.
So how should physicians put genetics into their practices? According to Dr. Scheuner, it is not the job of already overwhelmed primary care physicians to do the genetic testing and counseling themselves, but instead to identify individuals who may benefit from genetic services. Primary care physicians, she said, should also be able to provide basic information to patients and their families to help them make informed decisions and coordinate care based on test results. The key, she said, is to develop a relationship with a geneticist and/or genetics counseling organization and to know how to refer patients to that person or organization.
Internal medicine educators are already defining what core competencies in genetics the profession should include in training residents. The second edition of the Federated Council for Internal Medicine's "Graduate Education in Internal Medicine: A Resource Guide to Curriculum Development," for instance, will include a new genetics section. While MKSAP, the College's self-assessment tool, does not currently have a section devoted to improving genetics training, ACP-ASIM's Dr. Waxman said that subsequent editions and updates will include material about genetics in discussions about all organ system diseases.
The Fourth Edition of the College's "Ethics Manual," published last year, features a section about genetic testing and concludes that all primary care physicians should develop skills that help them provide "pretest and post-test education and counseling" for their patients. Noting the small number of trained genetic counselors, the manual says that generalists are increasingly responsible for conveying genetic test results to patients and that they should be aware of state and federal confidentiality rules and laws concerning results of genetic tests. (The full text of the College's "Ethics Manual" is available on ACP-ASIM Online at www.acponline.org; go to the section for the Center for Ethics and Professionalism.)
Finally, there are signs that some medical schools are realizing the importance of genetics. The University of Vermont College of Medicine, for example, is revising its medical school curriculum so that genetics is front and center. Starting with the class that enters medical school in August 2001, every course and clerkship will include learning objectives for genetics as well as epidemiology and ethics.
"Everything that you can think of that someone learns in medical school, you can find either an application in genetics or an explanation from genetics," said Diane Magrane, MD, associate dean for medical education at the University of Vermont College of Medicine in Burlington. Consider anatomy class, she said: "If you are dissecting a cadaver of someone who died of cancer, there was a genetic aberration in the control of that cell's growth. That aberration occurred in a person who may have had a familial genetic problem, who interpreted their disease differently than another member of the family or someone else in another community.
"It's impossible," she added, "to learn about how to take care of patients now without talking about genetics."
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