Regulating Genetic Information
Roundtable: The Politics of Genetic Testing
This discussion took place in March 1996 at “The Genetics Revolution: A Catalyst for Education and Public Policy,” a conference sponsored by North Lake College and others in Dallas, Texas. The participants were all Green Center fellows at the University of Texas at Dallas at the time.. The discussion began with the specific example of a man with Huntington’s disease and the the repercussions for his family. The panelists were asked to represent the views of the characters in the case study, but it should be noted that when they are speaking for the character, they are presenting that character’s view, not their own. When the discussion takes off from the case study, the panelists are speaking for themselves.
The panelists are R. Alta Charo, associate professor of Law and Medical Ethics at the University of Wisconsin Schools of Law and Medicine; Robert M. Cook-Deegan, senior program officer at the National Academy of Sciences; Rebecca S. Eisenberg, professor of law at the University of Michigan Law School; and Gail Geller, associate professor at the Johns Hopkins University School of Medicine. Issues editor Kevin Finneran is the moderator.
Finneran: Adam Stewart is diagnosed with Huntington’s disease in 1982 at the age of 45. Mr. Stewart was adopted, so he does not know anything about his ancestors’ genetic histories. His family consists of a wife and their 18-year-old son John. To get us started, I’ll have Bob Cook-Deegan give us a briefing on the nature of Huntington’s disease and what was known about it in 1982.
Cook-Deegan: Basically, Huntington’s disease is a neurologic disease. It results from the death of certain populations of brain cells, and it leads to movement disorders and often psychiatric conditions such as depression and loss of cognitive function. Onset typically occurs between the ages of 40 and 50. Although treatment exists for some of the symptons, there is no treatment for the disorder itself. For the purposes of our discussion there are only a few things that you need to understand. One is that if you have a parent with Huntington’s disease, you have a 50/50 chance of inheriting the disease. It is about the simplest situation that one can have in genetics. Huntington’s disease was the very first human disease that was mapped to the chromosomes with the new methods that became available in the early 1980s. In 1983, researchers identified the chromosome on which the mutation was located. In 1993, the gene itself (that is, the nature of the mutation) was discovered.
Finneran: To get us started today, we have to try to imagine what it is like for Adam to be in this position. I am going to ask Gail Geller to try to explain what is going through Adam’s mind and particularly what Adam thinks about telling his son John about this.
Geller: Adam’s biggest concern is his own mental state and then the degree to which he would inflict worry and depression on his son. He is feeling a need to protect John from information that would be of no use to him. He is also wondering if the doctor is required to tell John.
Charo: Why does the doctor even have to tell Adam? You’ve got a diagnosis of a disease that cannot be cured. You’ve got symptoms that, if left unexplained, could still be treated to the degree that you can modulate them without having to explain why it is that you have the symptoms. Since Adam can’t do anything about the disease, why give him this terrible knowledge? Why not keep it a secret and just treat the symptoms?
Cook-Deegan: In fact, there was a time in medicine when that’s exactly what most physicians would have done.
Geller: In many countries of the world, that is how providers handle the situation today. The patient’s right to know what is knowable about his or her condition is a new concept that is not widely accepted outside the United States.
Charo: But to be honest, I’m not so sure that it’s necessarily a wonderful thing to always tell the truth and, in fact, none of us do feel that we are always compelled to. Anybody here who has every broken up with somebody in a romantic relationship knows that one of the questions you get asked is, “Why? What’s wrong with me?” Has anybody here ever satisfactorily answered that question? I doubt it. There are times when more information is not necessarily a good idea, and we know that emotionally and intuitively.
Eisenberg: There may be a difference between your metaphorical example and in knowing what there is to be known about the length and progress of the disease. There may be certain family decisions that you would make differently. There may be financial decisions that you want to make differently in light of your knowledge of the length and course of your disease.
Finneran: We will come back to this, because the decision often changes with the nature of the information that is available about the specific disease.
Cook-Deegan: There is one reason, however, for telling Adam’s son John. He might want to know that he could pass this condition on to his children.
Geller: But a family physician must balance the confidential relationship with Adam and the wishes of the other family members who are also his patients.
Finneran: Let me move you forward. Adam decides not to tell his son John about his condition, and the doctor agrees to go along and not say anything about it. In 1985, Adam’s condition has deteriorated and he commits suicide, which is not an unusual development among people with an illness such as this. Does the doctor now have a duty to tell John that his father had Huntington’s disease?
Cook-Deegan: First, we should remember that the test for Huntington’s disease was not developed until 1993. The doctor could tell John that he has a 50 percent chance of having the disease, but he could not offer him the option of finding out for sure. At any rate, the doctor decides to give John as much information as he can.
Finneran: Rebecca Eisenberg is going to explain John’s reaction.
Eisenberg: Well, John has a number of concerns. The practical financial concerns include: What is this going to mean for his employment prospects? What is this going to mean for his ability to obtain insurance? What is this going to mean for his ability to provide for a family in the future? He also has a number of emotional concerns: How is this going to affect his ability to enter into relationships? What’s this going to mean for his self-image? If he has the disease, will he respond the way his father did?
Even if testing were available, he sees little value in it. Testing would not enable him to take any precautions that could delay the onset of the disease or slow its course. It may interfere with his ability to go on leading a happy life for as long as possible. It may make it more difficult for him to follow up on his professional ambitions. It may make it difficult for him to find a partner who would be willing to raise a family with him. Even now, John would choose uncertainty over testing.
Finneran: Life goes on for John. In 1994, he becomes romantically involved with Susan. They start talking about getting married. He now has to think about these questions vis-á-vis Susan, and Susan also has to think about what her interests are. She doesn’t know anything about John’s family medical history. She doesn’t have any reason to be suspicious, but anybody in this position has to think about what they would like to know about a prospective spouse. Alta Charo is going to tell us how Susan looks at this.
Charo: Most people considering marriage have numerous questions: Are the in-laws going to be bearable? Where does the other person want to live? What are his or her career plans? Susan wasn’t thinking about genetic disease until she heard Oprah Winfrey talking to some of her guests about it. This leads her to ask John if his family has a history of inherited disease.
Finneran: John stalls for a while, but he tells Susan that his father had Huntington’s disease and that there is a chance that he has it. What can John say to Susan?
Eisenberg: Well, first of all John thinks that he is living a life worth living, even though he is at risk of developing Huntington’s disease. He does not see that as such a terrible fate. In fact, John thinks that if he and Susan get married, they should have children even though those children would have a 25 percent risk of carrying Huntington’s disease. If they have the disease, their lives would be worth living just as his life is worth living. He hopes that Susan will be willing to marry him and make as much of a life together as they can for as long as possible.
Charo: Susan doesn’t like the odds. She tells John that they have been talking about having a big family, which means that there is a pretty good chance that one of the children will have Huntington’s. She wants him to be tested. If he doesn’t have the disease, they can get married and have a healthy family.
Finneran: At this point they decide to go visit a genetic counselor. What can a genetic counselor tell them?
Geller: Most of the public doesn’t really understand probabilities and risk information. Genetic counselors can help explain the information. They are very good at taking family histories, at drawing individual pedigrees, and at discussing with people what their individual risks for various diseases might be. Most physicians can’t do this. Genetic counselors are trained to be nondirective or value-neutral to the extent possible in their counseling. They feel very strongly that it is not their role to recommend a specific course of action. Physicians, on the other hand, are trained to give advice, and patients will often ask, “Doc, what do you think I should do?”
When it comes to the question of having children, genetic counselors will lay out the options, from the conventional biological approach, to using a sperm donor, to adoption.
Eisenberg: John’s first choice is the old-fashioned way, and adoption would be second, but he points out that none of these options elimates the risk of Huntington’s.
Charo: Susan worries about the risk if they have their own children, and adoption is not that appealing. She wants the experience of giving birth to a child and is willing to consider the sperm donor approach.
Finneran: They ultimately agree to adopt, but while the adoption process is going forward Susan learns that she is pregnant. It’s back to the doctor and back to the genetic counselor.
Charo: Susan is happy to be pregnant but worried that the child could have Huntington’s. She says to the doctor, ” It just seems sad to have a child that is already predestined to have a short life, so I want to take some time to think about it. You don’t have to tell John yet, do you?”
Geller: The genetic counselor will again want to lay out all the options. Well, the options range from continuing the pregnancy to having an immediate abortion. One possibility is to have a genetic test of the fetus. The problem is that current practice is to require that both parents consent to the test. (There is also a rule that minors will not be tested for Huntington’s without their parents’ consent.) John will balk at this, because if the fetus has Huntington’s disease, he will know that he has it.
Finneran: What is the basis of this requirement that both parents consent? Does the physician have any discretion? Can Susan shop for a doctor who will do the test without John’s permission?
Cook-Deegan: In the case of Huntington’s and most other genetic conditions, in theory you could find somebody because the technical means are available to do the testing in various places. It happens that most of the U.S. labs that do Huntington’s testing have agreed to abide by this dual-consent requirement. That is not the case in other countries, so it would be difficult but possible to have the test done without John’s consent. For many other tests, it would probably be possible to find someone in the United States. It is not a brick wall.
Charo: It is also important to distinguish between professional practice and law, because the government cannot pass a law that says that Susan can’t get tested without John’s permission. It can’t pass a law that says that Susan can’t have an abortion without John’s permission for the same reason, which is that once you have rights as an adult, the government is not entitled to condition those rights on somebody else’s permission or it puts you in second-class status. There was a time when husbands were able to exercise this control over their wives, but that time has passed. But what the law can’t do, the medical profession can do through professional agreement. Doctors can create a professional monopoly and dictate the rules. This is more powerful than government because you can’t even vote against it. It is a genuine issue about, ironically, more power lying in the private sector than in the government sector.
Finneran: How formal is this process by which these sorts of accepted physician practices develop? How was it done for Huntington’s? Has it been done for any other conditions? How can one influence these decisions?
Geller: In an ideal world the process develops on the basis of empirical research. The National Institutes of Health funded several studies of Huntington’s disease several years ago, and a consortium was formed to develop policies and procedures for Huntington’s testing. Currently, there is a consortium funded by NIH on cancer susceptibility testing. The belief is that we can’t decide what policy should be until we address in an experimental fashion certain questions such as: What are the implications? What are the psychological ramifications? What are the benefits? What are the harms? When is it good and when is it bad? Initially, we can do that only under research-protocol circumstances, which are artificial but at least begin to provide some answers from which policy can be developed.
Eisenberg: What do we do in the interim? In order to have meaningful empirical data, you have to keep monitoring the situation over the space of a generation or more for an ailment such as cancer.
Geller: But that is the policy right now. Cancer susceptibility testing should not be offered at all out of the context of a research protocol. That’s how Huntington’s testing began as well; you had to participate in a study in order to undergo Huntington’s testing before it entered standard practice.
Cook-Deegan: We have lots of ways in which medical technologies find their way into practice. At one extreme, you’ve got drugs, where you have a formal regulatory process. You have to prove safety and efficacy before a drug is allowed on the market. At the opposite extreme, you have a lot of surgical techniques that are never put through formal clinical trials before they are pretty widely disseminated. What we have with genetic tests is a mix of both models. With Huntington’s and now with cancer, the approach is very deliberate and careful. With cystic fibrosis, clinics were offering the test when the first formal studies were just getting under way.
Charo: It is also worth noting the effect that business interests will have on individual access to the tests. When it becomes possible to mass-produce genetic test kits, companies will want to market these kits widely and will not care whether or not the user subscribes to the carefully developed protocols of the professionals. There will be a direct conflict between the monopolistic control of the professionals and the anarchic individualism of the market.
Finneran: What is the status of the security of this information? One reason John didn’t want to be tested was that he was afraid his insurer would find out that he had the disease and want to cancel his insurance or his employer would find out and wouldn’t put him in the executive training program.
Geller: That is actually one of the advantages to being tested within the context of a research protocol. It is not foolproof, but in fact research data has greater protection than data that is just collected in a provider’s office.
Eisenberg: If you share the information gathered under a research protocol with the subject, the subject may then have some confidentiality obligations to disclose the information if asked by his or her insurer. If the individual lies or refuses to answer, that might be grounds for canceling the policy.
Finneran: As it stands now, can an employer or an insurer ask you if you have been tested, and are you required to give an honest answer?
Cook-Deegan: They can ask that question. You are not required in a legal sense to answer the question, but if you want the insurance you have to answer. And if they discover that you did not answer honestly, they can cancel the policy.
Charo: Remember, though, that this is where the state can intervene and prevent the insurance companies from asking the question and therefore prevent the insurance companies from using that information to screen people. That was a big issue surrounding AIDS and HIV testing, and it is something that could be tackled also in the context of genetics if one chose to, but by and large it has not. A few states have done it, but very few.
Eisenberg: Employers are more restricted than insurers in their ability to ask questions of this sort, just as they can’t ask you what your marital plans are. They are limited as to how they can discriminate in hiring and firing people. The regulatory situation for insurance is quite different and more complicated, and it makes it difficult to figure out how to attack the problem of insurance discrimination legally. Much insurance is offered by insurance companies who are regulated by the states, but there are large employers who provide their own insurance to their employees, and they are not regulated by the states. They may be regulated by federal statute, but it is difficult to figure out how to implement rules that address one segment of this insurance market in a way that does not create market distortions for the other. If we regulate the insurance companies, for example, more employers will find it advantageous to self-insure their workers and to discriminate in that setting. A comprehensive approach is necessary to avoid market shifting.
Charo: The employers don’t have the same justifications as the insurers, and they don’t have quite the same degree of freedom, but they have more than what might be apparent, because in nonunion shops an employer can discriminate. An employer can decide not to hire you because you have straight hair or red hair or a Texas accent or a Brooklyn accent. The law specifies that employers can’t discriminate on the basis of gender, of pregnancy, of race or ethnicity. But unless it has been specified in law, the employer is free to choose the criteria for employment.
Cook-Deegan: The answer in this case is probably that you cannot discriminate because of the Americans with Disabilities Act. But this has never been tested in court.
Charo: That’s right, because the Americans with Disabilities Act has not gone and covered genetic conditions to the point where there has been a challenge and there has been some kind of adjudication about its precise coverage. We know that it covers people with a physical disability that is currently changing their capabilities, and we know that it covers people who are HIV-positive who are perceived as disabled. But an employer can argue that he doesn’t perceive somebody with Huntington’s as disabled but simply as somebody who down the road is going to cause the company’s health insurance premiums to rise. That’s not discriminating against the disabled; it’s allowable discrimination on the basis of who is going be a more expensive employee, just as an employer can choose not to hire an employee who is likely to take too many breaks.
Finneran: Let’s look at this from a different angle. We’ve been focusing on reasons not to be tested. Are there also situations in which testing should be mandatory or where people would like it to be mandatory? Where is it in society’s interest or in an individual’s interest to be tested? Are there areas now where mandatory testing is taking place?
Geller: There are certain circumstances of newborn screening that are mandatory, and the main justification is that there is a treatment. For example, newborns are screened for PKU, an inherited metabolic disaster with devastating effects that can be prevented by early treatment. The consensus is that the benefits of knowing far outweigh whatever risks also come with knowing. And since newborns are completely vulnerable, physicians are usually given more decisionmaking authority in how to treat them. In some states it is mandatory to inform pregnant women that certain other genetic tests are available for the fetus.
Charo: Let me just add that in New York there is a battle royal on the very closely related issue of mandatory testing of fetuses or newborns for HIV status. When it was discovered that there was a significant reduction in the risk of transmitting HIV from mother to child if the mother was taking AZT during the pregnancy, New York state began to consider mandatory prenatal testing. But because this would force pregnant women to learn their HIV status, it pitted the interests of the mother against those of the child. The debate has not been resolved, and for the moment testing is voluntary.
Cook-Deegan: We need to maintain the distinction between tests that individuals might find useful and tests that should be mandatory. They are situations now-and there will certainly be more in the future-when knowing more about your genetics will enable you to prevent or reduce the likelihood of developing a disease through treatment or behavioral change. Huntington’s disease, for which nothing can be done, is not typical. There will be many cases in which the individual will want to be tested. That is very different, however, from mandatory testing, which should be implemented only in very compelling circumstances. In fact, an Institute of Medicine committee concluded that even PKU testing should not be mandatory.
Finneran: What problems arise with screening large segments of the population with a genetic test?
Charo: When you are screening a large population, you are going to pick up many more people who are at no risk and force them to submit to testing that can produce erroneous results. If you identify and test only the high-risk individuals, it is more efficient; but some individuals who have a problem will not be tested. A choice between targeted testing and widespread screening will have to be made for each genetic disorder.
Geller: There is also a fuzzy line because sometimes targeted screening programs can look very much like testing programs. For example, if you offer sickle cell screening only to the African American population, which has an extremely high prevalence of the trait, is that screening or testing?
Eisenberg: Another significant concern is that the larger the population you are screening, the less likely it is that you are going to be offering anything in the way of effective genetic counseling to go along with the testing and the more likely it is that people will actually be harmed by acquiring information they don’t really know how to make sense of.
Finneran: One last question. Are there cases in which a physician is required to release information?
Geller: If a person is asking for certain employment where her particular genetic susceptibility would potentially create substantial harm to large segments of the population, one could argue there is an obligation there to disclose.
Charo: From the physician’s point of view, there is sometimes a perceived duty to share information with third parties, because in a small number of cases physicians have been sued for failure to disclose to third parties. For example, people have successfully sued physicians for failing to tell them that their spouses were infected with various sexually transmitted diseases.
Eisenberg: A more immediate administrative concern is that you often need to make disclosures to your insurance company, not because you are sitting down and applying for insurance and then making a judgement as to whether they want to underwrite your particular risks or not, but because you seek reimbursement from your insurance company for your medical costs. The tests themselves are quite expensive. You might want your insurance company to pick up the cost of the test. The test may indicate that certain costly interventions are appropriate in your case, and you may want to keep this information secret from the insurance companies. The reality today is that you probably can’t keep it secret.
Charo: Now let’s up the ante just a little more with the insurance issues, because insurance companies share information. If it has been made known to insurer A that you were tested for Huntington’s, when you switch jobs or switch insurers, insurer B has access to that information from insurer A through information sharing, which is not yet thoroughly regulated. As a result, if you try to hide the fact that you were previously tested, there is an excellent chance that insurer B could find out that you were and drop you immediately or drop you at the worst possible moment.
Cook-Deegan: The question of genetic information is inflaming the already heated debate about the confidentiality of medical records. We as a society have not decided who owns and controls that information.
Charo: This is complicated by the fact that in many instances the patient is not the doctor’s primary client. If you are in the Army and a military physician examines you, do you have control of that information? If an employer requires a physical exam by a company doctor, do you control that information? The reality is that most of us have little control over the flow of medical information about ourselves.
Audience: If a couple decides not to have a genetic test even though they are at high risk for having a baby with a serious genetic defect, can the child sue for wrongful birth?
Eisenberg: The courts have been quite resistant to recognizing the complaints of children that are premised on the theory that had the parents behaved responsibly, I would never have been born and then I would have been better off. The courts have been more receptive to the claims of parents who have said that a genetic counselor failed to give them advice that might have led them to make a different decision about childbearing.
Audience: Are there new laws being written to address these questions?
Charo: There are many, many bills that have been introduced in Congress and in state legislatures that touch on a variety of issues-funding for selective abortion or not, regulation of what doctors can or cannot do in terms of screening, regulation about what kind of information can or cannot be shared among insurance companies or shared among employers-but most of it has gone nowhere. So many of these questions pit the rights of one type of person, say a physician, against another, perhaps an employer, and we simply have not reached a consensus on what to do.