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Genetic counseling: Your new job

Are you ready to handle public misconceptions, confidentiality dilemmas?

From the February 1995 ACP Observer, copyright 1995 by the American College of Physicians.

By William A. Check, PhD

The recent discovery of a gene that causes obesity in mice--and perhaps in humans--is just the latest sign that medical genetics is changing. As in other similar advances in the field, the obesity gene probably won't account for all, or even a majority, of the condition to which it is linked. But just using the test for the mutant form of this gene carries serious consequences: it could be used to identify a predisposition to illness in well persons and imply the need for dramatic (though unspecified) therapy. Plus, knowing the patient's genetic propensity carries a psychological, almost moral, dimension.

For internists, the most important news is that whenever tests for genetic predispositions enter clinical practice, internal medicine will be the specialty most responsible for ordering and explaining them. And most observers believe that some of these responsibilities will tax even a good internist's clinical skills.

"Ten years from now, almost every doctor will be dealing with DNA tests in their offices. We must move swiftly to be prepared for the revolutionary change in the way medicine will be practiced," Francis Collins, MD, director of the National Center for Human Genome Research (NCHGR), said at a Harvard Medical School conference last fall.

Those changes will give internists a greater counseling role, helping patients deal with information from genetic tests and whether to be tested at all. Internists also will be put in the position of dealing with public misperceptions about genetic testing and therapy, and grappling with the issue of confidentiality of test results.

Why internists?

The chief informational thrust in genetic testing will fall to internists in part because there are only about 1,200 clinical geneticists in the United States, says Susan Pauker, MD, chief of medical genetics at the Harvard Community Health Plan and assistant professor of pediatrics at Harvard Medical School. Internists' main role, she says, will be to help people of reproductive age understand the nature of family history, their own histories and when preventive action is warranted.

"The chief relationship between the clinical geneticist and the internist will be a consultative one, where an internist will call a clinical geneticist to obtain information and then provide it to patients," says Dr. Pauker, who has taught a course on genetic tools for primary care physicians for 20 years.

The good news is that internists will have some time to prepare for these changes.

"It will be a while before such [genetic predisposition] tests move into general medical practice," says Elke Jordan, PhD, deputy director of NCHGR. One reason is that interpreting results of the new genetic tests will pose a challenge. "What became apparent with the cystic fibrosis gene is that there is more than one altered gene that occurs in the population that has a similar impact," Dr. Jordan says. "This is becoming clear with the breast cancer susceptibility gene as well. So testing for these altered genes is going to be much more complex. We will need to understand what the consequences will be for patients."

But internists should be prepared to be cautious, particularly when predisposition tests for more common ailments, such as cancer and heart disease, become available, says Benjamin Wilfond, MD, assistant professor of pediatrics at the University of Arizona Health Sciences Center. "In the next few years," he says, "there will be many brochures coming across an internist's desk saying, 'You may want to screen your patients for disease X.' We need to become more critical. Just because a test is available doesn't mean that we have demonstrated a way to convey the information so people can understand it and so that it will help them improve their health or their lives."

Mark R. Hughes, MD, chief of reproductive and prenatal genetics at the NCHGR, adds, "Just because we can measure something, that doesn't mean that we should tell people that they are at risk for a disorder. Unless there is some medical intervention that would give them a benefit, we haven't done the patient any favors."

Handling public misperceptions

And finding the gene doesn't mean finding a cure-despite public perceptions. Clinicians will need to deal with unrealistic expectations of therapy, according to sociologist Dorothy Nelkin, PhD, university professor at New York University. Dr. Nelkin has spent the last few years studying the notion of the gene in popular culture, work she will report in the book "Genetic Mystique," due out soon. "Genetic explanations appeal in part because they seem to offer a definitive diagnosis. Physicians should know how to deal with this because they are used to dealing with people who want definitive answers for problems that are hard to diagnose," Dr. Nelkin concedes. "But this presents the problem in spades, because genes have been portrayed as being so scientific and definitive."

Although expecting too much from therapy and not having effective prevention apply to other conditions, they are intensified for genetic predispositions. Contemporary testing for genetic mutations represents a higher level of biotechnology, but that is not the main reason why it raises more difficult issues. "From a purely biology or technology point of view, this is no different from the other things we measure," the genome project's Dr. Hughes says. "It is just a new level of diagnostic understanding."

Genetic disease is also varied in expression. While in some diseases, the presence of the gene indicates disease, in others, gene phenotype and the influence of other genes can affect expression. For example, some persons with cystic fibrosis (CF) reach their teens without hospitalization and manage the condition without pancreatic enzyme supplements.

Experts say physicians can help dispel patients' misperceptions by explaining the difference between genetic disease and predisposition genes.

In his 1994 book, "The Gene Wars: Science, Politics, and the Human Genome," Robert Cook-Deegan, MD, now at the National Academy of Sciences, discussed these issues. Medical genetics used to be mainly relegated to a small group of childhood hereditary disorders plus a few Mendelian adult disorders, Dr. Cook-Deegan says. The first wave of gene hunts uncovered alleles for standard inherited conditions, such as CF and Huntington's chorea. Now inroads are being made into cancer, cardiovascular disease and diabetes, conditions "more in the mainstream of medical care. These do not fall into the same conceptual framework as was used for Tay-Sachs and sickle cell or even CF. It is a much more complex story than wrinkled peas or smooth peas."

And the predictive value of tests for genetic predispositions remains very much in question, according to Neil A. Holtzman, MD, MPH, professor of pediatrics and of health policy and epidemiology in the School of Medicine and the School of Hygiene and Public Health at Johns Hopkins University. "We do not yet know how often the genetic variants that account for these predispositions are likely to occur in the general population, nor do we know whether they will be as readily expressed--whether they will as often lead to cancer--as in predisposed families," he says.

In CF, for instance, about 75% of people who carry an abnormal allele have the same mutation. "With some work we can extend our tests to 90% of affected persons," says Dr. Hughes. "Problems come because the test is not 100% reliable for excluding the disease." Almost 300 mutations in the CF gene that predispose to disease are known so far.

For breast cancer the situation is even worse. "Almost every patient identified so far has her own private family mutation," Dr. Hughes says. "Testing for mutations in the BRCA1 and BRCA2 genes may be only useful in people with a known family history."

Complex inheritance patterns and lack of a family history in many cases will complicate counseling, as will the fact that widespread population screening is being proposed for some predisposition genes.

Testing for predisposition genes will broaden the social ramifications of genetic testing. Should close relatives be told when a person is found to have a gene that predisposes to a severe disease? And confidentiality, with its impact on insurability and employment, will affect many more people.

Getting educated

Who will be responsible for counseling patients about these complex facts? "More and more," Dr. Wilfond says, "it will be done by primary care providers, because the diseases concerned will not be specialized, but common--breast cancer, Alzheimer's and asthma, for example. The important thing will be for internists to become better-educated about explaining this probabilistic information."

As it turns out, that won't be as hard as it sounds. "There are significant gaps in the knowledge base of primary care physicians, but perhaps not as great as we had thought," says Dr. Holtzman, reporting on the results of his survey of primary care physicians' knowledge and attitudes towards genetics and genetic tests. Plus, filling in those gaps is not an overwhelming challenge. "Our data suggest that physicians can learn fairly rapidly some of the key aspects that are involved in genetic testing, even after medical school. Over the last 10 years obstetricians have had to use genetic tests more than internists or psychiatrists, and they have a correspondingly greater knowledge of these tests than primary care doctors." Dr. Holtzman sees internists becoming informed "in the usual ways in which doctors become informed when something becomes imminent as a standard of care. There is a real role for the College here."

Dr. Cook-Deegan suggests one simple step that primary care physicians can start with--to ask about family histories. "Most doctors don't record that," he says. "But in five years, having that data in the medical record will matter more than it does now."

A more complex step is to start thinking more like genetic counselors. Barbara Biesecker, a genetic counselor with the NCHGR, says, "The greatest ethic we need to uphold is patient autonomy, to allow people to make decisions for themselves. We should never say or imply things to our patients like, 'You all have suffered a lot in your family from Huntington's disease. I think it would be better if you guys didn't have children.'"

Counselors can influence patients in subtle ways. "How I teach you about CF will affect your degree of interest in the test," Ms. Biesecker says. "If I only acquaint you with the severe aspect of the disease, you may be more interested in the test and in not having children. Even if a physician purchases a videotape to show patients, how is he or she able to critique it objectively as an accurate representation of the spectrum of disease?"

Dr. Pauker sees respect for patient autonomy as a challenge for physicians. "I think all physicians can be lured by the question, 'Doctor, what should I do?' Or, 'If you were in my position what would you do?' People trust their physician and expect the physician to be able to give an answer in the patient's interest. It is tantalizing for a doctor to hear and we are tempted to give an answer. But the counseling needs to be non-directive based on the patient's values at the time," she emphasizes, "not the doctor's values." For example, a patient might choose to go ahead with a pregnancy even though the fetus has a very low chance for health and well-being. "It is our job to help them through this process," Dr. Pauker says.

Dr. Holtzman found some support for Dr. Pauker's concern in his survey of primary care physicians. "We found that primary care physicians, in dealing with reproductive aspects of genetics, were much more willing to give advice or recommendations to patients than were medical geneticists or genetic counselors," he says. Fewer than 10% of primary care physicians would give an opinion about what a woman should do if a fetus were affected with CF, but about half were willing to give an opinion about whether the woman should have prenatal diagnosis.

Choosing not to know

One phenomenon that internists will encounter as they enter the world of genetic testing will be patients' decisions not to have a test, particularly for severe, late-onset illnesses such as Huntington's or Alzheimer's. Dr. Holtzman says that before the test for Huntington's disease was given to individuals in potentially affected families, researchers asked, "Do you really want to know at age 20 whether you are likely to get a fatal disease at age 50 or 60?" Faced with that option, many people who initially said they would get the test changed their minds. As a result, the uptake of these tests is much lower than was initially predicted.

Anthony So, ACP Member, Medical Research Associate at ACP and a senior fellow for the Leonard Davis Institute of Health Economics at the University of Pennsylvania, believes that in some cases, patients flagged with a genetic predisposition for breast cancer could be in denial or be so frightened that they delay or do not seek routine screening.

It can be the same when reproductive decisions are at stake. Dr. Wilfond recently attended an Arlo Guthrie concert. "What if Woody Guthrie had been told that he had a disease and was counseled not to have children?" he wonders. He raises another conundrum: What if a woman tests positive for a breast cancer gene, and wants prenatal testing for the gene, intending to abort the fetus if it is positive?

Another dilemma: Some patients at risk for Huntington's want children free of the condition but do not want to know whether they carry the gene, ruling out prenatal testing. In this scenario, geneticists look at the genes of the grandfather (the father of the affected parent). If either fetal allele is the same as the grandfather's, the fetus is considered "at risk" and aborted. "Of course, with this approach you are aborting 50% normal fetuses," Dr. Hughes says.

Who should know what?

One unfortunate outcome of testing for genetic predispositions for which there are not yet effective preventive measures is to create "a whole new class of patients--the chronic genetically predisposed," says ACP's Dr. So. Anti-discrimination statutes will need to be brought into line for these "genetically predisposed but healthy" persons, he says.

The confidentiality issue is multifaceted. Suppose a patient has polyposis that turns out to have a hereditary component, but the person doesn't want the information given to a sibling. What does the doctor do? asks Alex Capron, university professor of law and medicine and co-director of the Pacific Center for Health Policy and Ethics at the University of Southern California, who posed this hypothetical situation. Existing law has grown up in a psychiatric context: If a person has made threats to another person, the therapist has an obligation to take reasonable steps to avert probable harm. "But a physician may not know who the sibling is and where they are," Mr. Capron notes. "The best course, which goes to the counseling function of the physician, is to address with the patient the reasons for non-disclosure and possible ways to overcome them."

Confidentiality also bears on insurability and employment. Geneticist Paul Billings, ACP Member, associate clinical professor of medicine at Stanford University School of Medicine, cites the classic (and true) case of a woman who, during a routine gynecological examination, asked about her grandparent who had recently died in a mental institution. Huntington's disease had been raised as a possibility. The doctor noted the conversation in the chart. Later the chart was read as part of an insurance evaluation and the woman was denied a variety of insurances by a variety of carriers on the basis of a family history of Huntington's disease.

"I have heard from fellow practitioners about all sorts of practices that I was not aware of to game the system," Dr. Billings says. "For example, not documenting certain kinds of diagnoses in the chart, for fear that their patients would lose health insurance."

An uncertain future

Taking into account all the potential benefits and harms of testing for genetic predispositions, Dr. Wilfond concludes, "I am not for or against genetic testing. The tests have the potential for improving people's lives. They also have the potential for messing up people's lives. To a large extent, that is going to depend on the way the information is handled by the provider who is discussing the possibility of testing with them and giving them the test results."

But genetic counselor Ms. Biesecker thinks the outcome may be beyond physicians' control. "I'm optimistic in the sense that, done well, these tests could be very promising tools," she says. "But I am not optimistic that it will be done right. Not because of primary health care professionals. But rather because of economic pressures from for-profit testing laboratories that will pressure doctors to introduce genetic testing into their practices before we are ready for it and without offering support services." In this scenario, leverage would come, once again, from raising the specter of liability.

William A. Check is a freelance writer living in Wilmette, Ill., who writes on medical and scientific topics.


A matter of confidentiality

By William A. Check, PhD

If a person is found to have a gene for Huntington's disease or for a susceptibility to inherited cancer, should a physician tell relatives who are at a genetic risk, even if the patient doesn't want the information disclosed?

Sociologist Dorothy Wertz, PhD, asked such questions about confidentiality issues of providers of genetic information in 1985, of patients and members of the general public in 1994 and (in ongoing work) of providers in the United States and Canada.

In the 1994 survey of 99 first-time genetics patients and nearly 1,000 members of the general public, about equal numbers endorsed each of three possible answers to the question above-that the physician must preserve confidence, that the physician should tell a relative who asks, and that the physician should even tell a relative who does not ask.

Patients are now grappling with the issues of genetic testing that geneticists first tackled 10 years ago, according to Dr. Wertz, who is a member of the Shriver Center's division of social science, ethics and law. In her 1985 worldwide survey of providers concerning confidentiality of test results for Huntington's disease and hemophilia A, 54% said they would maintain patient confidentiality if a patient refused to disclose information to a relative who was at risk.

In the 1994 public poll, most people said that it is all right not to reveal results to health insurers. In the 1985 survey of providers, 34% wouldn't tell health insurers even with patient consent. "Nobody trusts insurance companies," Dr. Wertz says. She sees this as a reflection on our health system: "You have something that should be a basic right and you're charging premiums for it and excluding people. People see that as wrong."

Data from the ongoing survey of providers are not completely tabulated, but, Dr. Wertz says, "They show a marked trend toward confidentiality rather than telling relatives at risk when the patient wants confidentiality maintained." Providers would also maintain confidentiality rather than tell insurance companies or employers.

Subjects in the public survey were asked about a school bus driver with familial hypercholesterolemia who has chest pains and who could have a heart attack while driving the bus. Among patients, 75% said the doctor should tell the school system if the patient won't; 57% of the public agreed, while 26% would respect confidence.

"Among the public, safety comes first," Dr. Wertz says, "while genetic service providers say confidence comes first." In the ongoing survey of providers, Dr. Wertz found that about half have had a case with this kind of conflict and that the majority favor confidence even if there is a potential threat to public safety. "There are airline pilots out there at risk of Huntington's disease," Dr. Wertz says. "And somewhere in Canada there is a person with symptomatic Huntington's disease driving a 16-wheeler."


What's next for genome research? Studies focus on patients

By William A. Check, PhD

Funding for basic gene research has been prolific. But what of studying human reactions to the availability of tests for genes predisposing to breast cancer, colon cancer or Alzheimer's disease? Experience with testing for the Huntington's disease gene demonstrated that it's not easy to predict whether persons who are potentially afflicted or potential carriers will want to have the test or what they will decide on reproductive issues.

Huntington's chorea is confined to families with a history of the disease. But cystic fibrosis (CF) also occurs in persons with no CF in their pedigree. When a gene test for this disease became available in 1989, studies were proposed to look at its acceptance among both afflicted families and the general public before the test was widely offered. Funding was not readily forthcoming, but persistence by such groups as the American Society of Human Genetics led to support by the Human Genome Project.

"Because the genome project funded the pilot studies, we have useful information," says Robert Cook-Deegan, MD, of the National Academy of Sciences. "For instance, demand is not as high as was predicted, different families handle the information in different ways and informed consent is not as simple as the textbooks would have you believe." Field studies of CF gene testing are ongoing.

Grants were awarded this year by the Ethical, Legal and Social Implications Working Group of the National Center for Human Genome Research (NCHGR) to replicate those studies with the colon and breast cancer predisposition genes. "What has changed," Dr. Cook-Deegan says, "is that instead of just watching as people begin to apply the technology, from the outset you do a systematic study of medical, sociological and psychological aspects of the test's impact. We are beginning to think we should know what we are doing before we release medical technologies."

Because of these field evaluations, says Elke Jordan, PhD, deputy director of the NCHGR, "We may know in a few years how better to present these tests to patients."

A number of other projects are under way or planned:

  • Neil A. Holtzman, MD, MPH, professor of pediatrics and of health policy and epidemiology in the Johns Hopkins University School of Medicine and the School of Hygiene and Public Health, is organizing a task force to study these matters through the NCHGR's Ethical, Legal and Social Implications Working Group. "We are now awaiting HHS approval to invite members," Dr. Holtzman says.
  • NCHGR is hiring five staff members who would work in the area of ethics and health policy.
  • The American Society of Human Genetics is developing a committee on technology transfer.
  • A bioethics advisory commission has been proposed by the Office of Science and Technology Policy.

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