The individuals in this book reflected on their experiences to try to help others facing similar predicaments, and suggested many implications for broader social and political institutions. They spontaneously discussed these ramifications, pondering how not only they and their families but society as a whole should confront genetic risks. In so doing, they considered several types of policies that could affect genetics.
As we saw, many mistrust confidentiality protections or do not grasp the full details. Assessing privacy regulations is difficult. This confusion, perhaps deliberately created by insurance companies, leads many people to view privacy laws warily. Generally, these individuals sensed they had few, if any, options.
Ultimately, many perceived only one solution: universal health care. Given their genetic risks, they saw broad benefits to such universal coverage, extending to many aspects of their lives. Barbara, the part-time professor with Alpha, argued, “You should be able to have insurance, lead your life, find out your purpose, and have a chance at whatever your life path is.” President Barack Obama’s health care reform legislation of 2010 will surely help address many concerns about pre-existing conditions. But as of this writing, many details concerning the implementation and enforcement of this legislation remain unclear. The men and women here highlight the need for ongoing attention to these issues.
These individuals also voiced strong views concerning policy debates about whether to widen genetic testing or screening. Some here are aware of the possible broad public health benefits, and feel that more testing should be done since it could potentially help save lives. As Carmen, the Latina, said, “Doctors should check genetic testing for everybody, not just for cancer, but for all medical problems, to see what defects you have in your genes, so they could correct them.” The fact that she had breast and thyroid cancer and a mutation shaped her views.
Yet these attitudes may at times be ill-informed, and not always fully reflect the possible complexities involved. Carmen suggests an ability to “correct” these mutations, which is generally not yet the case. Barbara, a former smoker, added—more realistically—about Alpha,
All kids should be tested for Alpha, because you can make lifestyle choices early. I made the wrong ones. There probably are dangerous insurance implications. And if you’re a kid, and your parents find out you have something incurable, it’s tough.
But she still feels that the pros of wider screening outweigh the cons.
Benjamin, the engineer, thinks that smokers should all be screened for Alpha, though he recognizes the potential controversies involved.
I don’t know if smokers would agree to it. I probably would not have agreed to it, when I smoked. But people are now identified when they’ve already lost a lot of lung function, not when they’re starting to lose it.
He feels that the advantages to patients who would be identified override the potential political problems involved.
He appreciates the importance of individual rights, but remains unswayed. “We’ve got to be very careful with screening, but people can then make the right smoking decisions,” he said.
A few argued that more assays should be performed for HD as well. Roger, who tested mutation-positive, said,
More people should be tested for Huntington’s, but a lot of people just aren’t ready. When I first saw my genetic counselor, he told me I shouldn’t get tested. But if you’re having early signs, you should at least get in touch with a Huntington’s group.
Questions arise about screening for other diseases as well—for example, hemochromatosis, which affects 10% of the population.
Yet others are far more cautious about widespread probing. Several feel that genetic testing is appropriate only if patients could then act on the information in some way. Rachel, with breast cancer and a mutation, said that she “wanted to find out, because maybe there’s something I can do . . . I have two young children. If my future was only about me, I might not have tested.” She wanted to help her family—even if she was not clear how.
Others support increased screening to eliminate a mutation from the population. But they, too, had generally not thought through the full implications. “If you can remove the HD mutation,” said Kate, the former nurse with Alpha, “it’s much better.” She does not see the possible problems of eugenics here—the potential slippery slope.
Others more readily acknowledged these complicated tradeoffs. Peter, the retired businessman now leading an Alpha support group, cited other potentials for exploitation of the information—not eugenics—though still favoring wider Alpha testing. “The earlier you learn about it, the better,” he said. “But you have to protect against corruption and misuse of the information.”
Another potential problem with screening concerns false positives and negatives, and determinations of what rates of these are acceptable. As Simone, the bookkeeper with the HD mutation, pointed out, a “false positive rate of three in 1,000 is still not great, if you’re going to tell someone: life or death.” But what error rate would legitimize broader evaluation is not clear. Complex tradeoffs and political decisions are involved here.
Some recommend wider testing that would not be mandated by policy makers, but encouraged and adopted by patients and communities more informally. In various social worlds, individuals frequently seek to persuade others to test. Gilbert, the factory worker, for example, advises smokers to be checked. “If I encounter a smoker, even casually, I will encourage them to get an Alpha test,” he said. “Maybe it will give somebody that last little bit of incentive to stop smoking.”
Many law enforcement and elected officials continue to seek the establishment of large genetic databanks for apprehending and convicting criminals, posing additional social and ethical quandaries. Such proposals spark anxieties about potential violations of confidentiality. Interviewees expressed concern that existing DNA research banks could be subpoenaed, and searched to discover identities of perpetrators or others. Simone, familiar with private industry, added,
You could track down criminals, but now schools want test results, too. They would look and say, “This person is going to have HD. I’d better send a little note to my buddy at the insurance company.” And then they don’t give the person insurance. If you open a door, you never know what’s going to come out. You introduce legislation for a certain reason, and 20 years down the road, it’s twisted. It sounds great to have the DNA for finding criminals, but they can’t take care of people in prisons now, anyway.
Still, if the predictive accuracy of assays increases, views of some of these issues might change. She continued, “It should be more up to the person, if they want to get tested. In 20 years, if they can tell you that in two years you’re going to get sick, it would make more sense to find out.”
HOPES FOR RESEARCH
Genetic communities actively encourage research and hope, galvanizing resources. But how fast genetic research will proceed, and how soon a cure will be developed for HD or other disorders, is unclear. The timetable, whether years or decades, is unknown. Many people see great promise from science, but also hazards. Barbara, the part-time professor and former smoker who was “relieved” to learn she had Alpha, remained optimistic: “They’re working on stem cell research . . . a baby could be helped in the future—maybe not in my generation, but in several generations.” She readily accepts the long-term frame of scientific progress. More individuals will have more information about their fate. But even she recognizes the double-edged sword. What people will do with that information—whether it will be good or bad—remains unknown. She continued,
Everybody should live with the knowledge of their own death. But it’s going to cause problems for the haves and have-nots. Rich people could get three livers. Our society is going to need more equal access.
Further skepticism arises, too, about these potential gains. Given her neuroscience training and familiarity with the slow pace of research, Antonia thinks that a cure for HD is far off. She is struck by how much scientists still do not know.
For 10 years, we have known that the disease results from just one gene. But we still don’t know what the gene does. Without it, mice die, so it’s needed. But we still don’t know its normal function.
Still, overall, even nonscientists here remain sanguine about research. Karl perceived impressive advances in scientists’ abilities to pinpoint disease causes. “It’s a miracle,” he said, “that you can glimpse into the human genome. Ultimately, that is going to be incredibly valuable to all people.”
As mentioned earlier, many feel, altruistically, that participating in research is therefore important. They recognize that genetics is still experimental, but they are undeterred.
Nonetheless, several remain wary about too much genetic tampering. Some feel cautious, for instance, about cloning and stem cell research. Bill, the salesman who cares closely for his HD-affected brother, said, “You’re screwing with Mother Nature. Understanding genetics is great. But once you mix genes, and clone sheep, you don’t know the repercussions.”
Others are cautious about specific details involved in conducting research. For instance, long informed consent forms may end up not being user-friendly or well-understood. Still, other interviewees, such as Charles, the accountant with Alpha who had worked for a major corporation, understood the needs of researchers in industry and elsewhere.
The forms are too long, but that’s the way they are. I don’t have a problem with everybody protecting themselves, as long as it’s not at my expense. And if there are potential downsides to a study, I want to know.
Individuals thus view these issues in widely diverging ways based on a range of personal, professional, and medical factors.
Researchers Testing Samples in the Future
Increasingly, new tests will be conducted in the future on DNA collected in the past. Yet such assays pose additional conundra—who should own these samples, how useful will these tests be, and who should receive the results? Many of the men and women here would want to know the findings of such future tests conducted on their DNA—an integral part of themselves. Interviewees felt, too, that researchers should disclose future test results to past research participants, since these data may be important to know. Jan, with breast cancer but no mutation, said, “Researchers should tell me. If they’re doing a genetic test, and are not going to tell me, I should know why.”
Carol, who chose prophylactic surgery despite her boyfriend’s opposition, would also want to be notified about future tests, because she thinks these might aid her. “If they found something that would benefit me, and didn’t tell me, I would be really mad.” She recognizes the possible logistical impediments to contacting research participants from years earlier, but feels that these barriers would not necessarily exist (“I haven’t moved in 15 years”).
Yet such tests may yield only very slight, if any, direct benefit, and may be experimental. The results may not be replicable, and the tests may not be run in standardized government-certified labs. The results may be only minimally significant, and very difficult to interpret.
Though some are wary of such future tests without notification of patients, others support it, accepting the limitations of alternatives. Charles, with Alpha, downplayed potential problems:
I just gave blood to a study, and allowed them to keep it as long as they want, and use it for whatever they want. I don’t have any problem with that. I can’t imagine why anybody would.
He cannot even conceive of reasons for caution.
Individuals may support such future testing since they have already been diagnosed with a major disorder. Yvonne doesn’t care about future tests on her genetic samples—in part because she already has Alpha: “I’m already sick, so it doesn’t matter with me.”
Other people may be uninterested in the results in part because these can be threatening. Vera said that her siblings gave blood for breast cancer research, but did not want to learn the results.
One sister said, “Why do you need to know? The test wasn’t available 20 years ago, and people still lived and died. Why put myself through the anguish of trying to decide what to do if I have the gene?”
In part, Vera feels her siblings simply would not be able to “handle the news well.”
Altruism—stemming from the fact that such future testing might aid subsequent patients—could legitimize researchers not disclosing these results. Some people would prefer to know, but would forego that right if other patients were being helped. Bonnie, having seen breast cancer in her mother and sister, said, “If 50 years down the line they could find a cure because I gave blood—fine. I should know. But if they just want to keep testing the blood, that’s fine.” She valued altruism over her own rights.
Others support future testing, but would want to know the outcome, because they are interested in science.
Still others expressed caveats, seeing a clear tradeoff: they would let their DNA be used for future studies because it may help others, as long as confidentiality is protected. Gilbert said, regarding Alpha,
I give carte blanche permission for researchers to look at my blood any time in the future. If I’m contributing to the solution of a problem, go ahead. But confidentiality is the key. I would not give that up. As long as you don’t reveal my name, rank, and serial number, I don’t have a problem.
Until now, many researchers and IRBs have concurred that DNA donors will simply not be told the results. But patients may nevertheless want to know. It remains unclear what exactly the threshold for notification should be, given the diversity of preferences and beliefs. Further public discussion is essential.
IMPLICATIONS FOR EDUCATION
These men and women also highlight ways of enhancing education about genetics. Providers need to increase their knowledge and sensitivity concerning these issues. Beatrice, the math teacher who had breast cancer along with her sister, but no mutation, described an inadvertently callous physician her sister had encountered.
The resident was just not very nice or comforting. When my sister came back to the hospital having to go through surgery again, he said, “What are you doing here?” My sister said, “I have to come back for another mastectomy.” He said, “Shit happens!” My sister was very upset by that. It was very insensitive.
Clinicians may also need to become more attentive to the diverse psychological and ethical issues that patients and their family members face in testing, disclosure, and reproductive decisions. In many regards, these issues differ from those posed by other diseases. Here, providers need to assist and communicate with not just one “index” patient, but broader families who may require help as well. Chloe added,
Doctors should talk to caretakers, along with the actual patient. It’s really hard for the caretaker. I help my nephew do his homework, because my sister can’t, due to HD. Doctors should talk to the whole family.
These interviewees reveal needs for increased public education about genetics as well, but dilemmas emerge of what and how much to say at what level. The public needs more information, but may not be interested—unless they feel it directly impacts them. As Albert, the policeman with the HD mutation, said, “If it doesn’t affect you, people just aren’t interested. If they’re not aware of genetic problems in their family, most don’t care about it.” For breast and ovarian cancer, given the relatively high prevalences, more public education is especially critical since many at-risk individuals do not know that genetic testing exists. Public understanding of cancer as a whole is improving, but could be further enhanced.
Yet tensions arise, since heightened information about genetics could fuel unrealistic expectations—which have already begun to surface—about the “power” of the field. Sarah, the computer programmer with a family history of breast cancer, but no symptoms or mutation, said,
A lot of people assume that there’s one single magic cure coming—like with smallpox vaccination. But for breast cancer, the treatments are horrible—being unable to walk, bathe yourself, or control your bowels.
Confronting their genetic risk shapes how these men and women view not only their own lives, but how they view broader social policy and educational issues as well. Their experiences affect their perspectives on public debates about health care reform, broad population screening, genetic databases sought by law enforcement officials and schools, and future research on DNA samples. These individuals underscore the pressing need for more education of patients, providers, and the public at large. The newness of the field, the rise of the Internet, and other social phenomena all make genetics both personal and far more broadly social, affecting one’s immediate as well as larger worlds. These men and women do not always agree on what specific policies are needed—but they all see wide social repercussions of their struggles.