Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing 1st Edition

CHAPTER 9

“There’s Only Privacy If You Make It”: Problems with Privacy and Insurance

“I lied to my doctor,” John, who dropped out of graduate school when learning about HD in his family, told me. “I said that I hadn’t seen a doctor in so long, I couldn’t remember his name, and didn’t know where this new doctor was going to be able to get my old records. I was trying to kill the paper trail that stated that I was at risk for HD.”

But, I wondered, what if his old record contained information that a new physician would find valuable in John’s care?

These men and women face dilemmas concerning not only which medical procedures to pursue, but how to pay for them, and specifically whether to use insurance—thereby divulging their genetic risk to others. Genetic information can prompt treatment, but also discrimination. These individuals struggle to pursue medical help while avoiding stigma. But these dual goals often prove hard to achieve. Patients with other medical problems face these frustrations, too, but genetic tests pose added challenges—since one may lack symptoms, and information about one’s own genetic risk also implicates one’s family, potentially revealing information about their chance of disease as well.

Awareness of one’s own genetic risk also forces one to confront larger political and economic issues about health care financing and delivery. While in the United States concerns about health insurance discrimination loom large, in the United Kingdom, which has national health insurance, discrimination arises related to life insurance more than health insurance. There, banks maintain the right to obtain results of certain genetic tests in determining mortgages.

In May of 2008, the Genetic Information Non-Discrimination Act (GINA) became law in the United States, and some patients, family members, and even providers feel that potential problems have thus now been resolved. Yet debates continue as to how much actual genetic discrimination exists. Indeed, in April of 2010 a woman sued an employer, stating that she was fired as a result of her genetic background after she underwent prophylactic double mastectomies.1

Critics have asserted that complaints of discrimination have been exaggerated,2,3,4 and based on subjective, anecdotal impressions, rather than objective facts. Some have insisted that objective data are needed to assess whether alleged instances of discrimination have indeed occurred, and if so, whether they have been legal or illegal.5,6,7

Given the need for data, the Australian Genetic Discrimination Project recently surveyed 951 genetic clients in that country. Of these, 10% reported discrimination, citing several domains: life insurance (42%), employment (5%), family (22%), social (11%), and health (20%).8,9 Yet questions remain concerning the degrees and circumstances of such bias. Experiences may also differ between countries based on whether national health insurance exists (as in Australia and the United Kingdom) or not (as in the United States), and the nature and scope of implementation and enforcement of antidiscrimination legislation.

GINA intended to prevent genetic discrimination—generally defined as discrimination faced by an asymptomatic individual who has a genetic mutation. Bias faced by a symptomatic individual would presumably be based on a disability, and hence be covered, in the United States, by the Americans with Disabilities Act (ADA). GINA stipulates that employers and insurance companies cannot discriminate against individuals on the basis of potential genetic conditions, punishable with fines of up to $300,000.

Yet surprisingly, little data have been published concerning how patients who have or are at risk of genetic disorders actually view these issues, and when, how, and to what degree they have experienced discrimination.

These interviewees express many concerns about discrimination, which they see as taking a wide range of forms from explicit and overt, to implicit and subtle—and therefore being hard to prove. Laws may be limited in their protections and effectiveness. Several factors may be involved, including the visibility and disease-specificity of symptoms and the nature and age of employees, and these concerns can hinder testing, disclosure, treatment, and major career and life decisions. Many individuals are concerned that they may fall between the cracks; they are either uncovered by GINA or ADA or uncertain as to whether they are covered.

INSURANCE CONCERNS

For patients with other diseases as well, insurance can be precarious. But genetic information may provide a degree of knowledge about the future, heightening worries. Most Americans have limitations in their insurance that can severely restrict choices in choosing doctors, obtaining second opinions, having genetic testing, and accessing reproductive technologies. Insurance—for those lucky enough to have it—can be confusing. What services are covered, and to what degree, can be unclear. A patient may decide to use insurance depending in part on how much exactly it reimburses. When genetic risks are involved, these issues can become even more perplexing. “We weren’t sure exactly what was covered where,” Karen, the lawyer, said. “And if you test before you get sick, there can be problems.”

Obstacles arise concerning not only health insurance, but life, disability, and long-term care insurance as well. Before Linda, the art teacher, learned that she lacked the HD mutation, she was anxious about coverage and felt she had to proceed as if she might indeed get the disease.

With life insurance, if after two years you don’t die, and they don’t find anything bad, then the insurance remains. I think I found out that it was the same for long-term care insurance, but I wasn’t sure. I hope the clauses in the long-term care insurance policy said that if they didtake it away, I would get all my premiums refunded.

People grapple to understand the intricacies of each type of coverage. Disability insurance, for instance, can also be bewildering, and insurers may not provide full or accurate information. Jennifer, the schoolteacher with Alpha, said,

The insurance representative should have told me that I could have kept Blue Cross, and Medicare could have been my secondary coverage. I didn’t ask. I just assumed. I didn’t research it sufficiently on my own.

As she suggests, even fairly well-educated patients struggle and have to teach themselves.

Insurance companies can also be vague. For instance, they may provide coverage for only limited periods of time. “My insurance says, ‘We’re taking you on for one year. Then, we will review,’” reported Diane, the Spanish teacher who had had an unanticipated mastectomy. “At least that’s what I think I understood in that letter.” She remains uncertain. Insurance can be fleeting and fluid; one can have it, but it can be taken away.

With HD, many feel that it is important to arrange for disability insurance coverage before undergoing testing. As suggested earlier, genetic counselors and patient advocacy groups often recommended doing so. “My father gets a pretty good chunk of money from his disability policy,” Karl said, “because he had it in place beforehand.”

Many worry that insurance company policies or laws can shift, or that one’s own or one’s spouse’s job could change, jeopardizing coverage. “I don’t know if my husband’s going to change jobs, or not work, or if I have to go to work,” said Rachel, whose family died in the Holocaust and who now has breast cancer and a mutation. “Everything could change.”

Similarly, a patient or his or her spouse could be laid off, jeopardizing insurance. In the US, the continuation of insurance coverage mandated by the Consolidated Budget Reconciliation Act of 1985 (so-called COBRA insurance) lasts only 18 months. Companies can also change insurance companies, each of which can have different policies. Uncertainty hovers as well since current or past employers that had arranged for insurance can eventually become insolvent. Gilbert, the factory worker with Alpha, said that his company

. . . declared bankruptcy. It’s a virtual certainty that retirees will be losing their health care coverage. I may have eligibility for an 18-month COBRA extension. I don’t know whether I can be turned down in this state or not, but I’d just as soon not even find out.

Many with insurance coverage worry about threats to it in the future due to government alterations in policies. Peter, the former businessman who now runs an Alpha support group, said,

I’m now on Medicare, and my wife is a retired teacher, so we have the state health benefits plan, and a very high percentage of my costs, about $60,000 a year, are covered. But who knows what will be coming?

Patients fear that possible health care reforms can impose additional changes and restrictions. Insurance companies can also change their regulations and practices in the future or increase their rates, heightening apprehension.

Not surprisingly, these individuals tend to fear that the presence of a mutation could threaten insurance more than jobs. Rhonda, the nurse with breast cancer and the mutation, said, “I’ve never heard someone say, ‘I tested positive and am worried about getting fired.’ But I have heard concern about being able to maintain insurance, and switching jobs, because of insurance.”

PROBLEMS WITH PRIVACY

Insurance companies induce anxiety about not only coverage, but threats to privacy as well. The possession by insurance companies of highly personal health information generates visceral discomfort. Many interviewees feel these corporations know more than they should. Bonnie, the saleswoman whose mother and sister had breast cancer, felt personally exposed—that her private information could be purloined.

It’s like a thief coming in your house, and looking through your underwear drawers. You don’t know who it is, but you know someone’s been there, and you feel violated, even if they’re faceless. You go to a therapist to share something you can’t share with the world. Some executive looking over your records is just not fair—even if you don’t know who they are.

A few rare interviewees felt that privacy was adequately protected, and that concerns of violations of confidentiality were overblown. Individuals may have little concern since they have not seen or experienced discrimination or possible harms, and hence may not appreciate these potential dangers. These views vary in the degree to which they acknowledge the possible complexities involved. Benjamin, the engineer with Alpha, lost his job because his employer realized that Benjamin could go on disability. Nonetheless, Benjamin felt that privacy was well-protected, and that concerns can be exaggerated.

We get a little overzealous. I don’t see where it’s of that much interest to anybody. People are afraid that if the Alpha registry is not protected properly, Mr. Evil can get in there. But what would anybody want to do with this information? I don’t think insurance companies are going to go break laws to get it. I don’t know too much about it, but the government is sure throwing up all sorts of regulations. You’ve got to go through all sorts of hoops. A lot of people believe we’re not protected enough. I’m saying: there’s got to be a happy medium. I don’t know where.

Though he is wary of the need for regulations, he remains unsure. Some individuals thus have faith in confidentiality, though at times this trust may be naïve.

A company’s large size can itself alleviate fears of such personal discrimination. Karen, the lawyer, feels confident that her employer is “such a huge bureaucracy that the information wouldn’t go anywhere.”

But most others are far more wary. Often, they do not know much about privacy laws that might protect them, but remain suspicious and cautious. As Laura, the graphic designer with no breast cancer but a mutation and family history, explained, “I’m worried, but don’t feel I have much information. I don’t even know how much I’m protected. Genetic counselors told me you can’t be turned away.” But the risks of losing insurance were too high for her—in part as a freelance artist—to feel wholly comfortable.

Others know of at least some of these laws—for example, the Health Insurance Portability and Accountability Act (HIPAA)—but remain wary of the ability of such legislation to safeguard confidentiality. Karen added,

I do not believe in the power of HIPPA to protect privacy. With HIV, I’ve seen confidentiality broken too many times. In theory, we have this patient protection law. But I’m not sure it’s going to work.

She and others assume that information will leak: “You have to expect that your genetic results are going to be told to people whom you would not necessarily want to know.”

Most patients are also wary because they have been regularly asked to sign away their rights to privacy in order to receive treatment. Many people just authorize such forms without reading them. Technically, patients have the right not to sign. But they generally feel that they have little choice. “On the one hand, you are told that you are entitled to privacy,” said Diane, the teacher who had an unexpected mastectomy. “But instantly, everyone makes you sign all these release forms, so it’s totally meaningless.” Hence, in the end, options appear illusory. “If you refuse to sign, and want a job, you are free not to apply. That’s your only choice.” In part due to her surgery, she remained somewhat fatalistic about her options.

Refusal to authorize release of information could in itself raise suspicions. To decline to sign may suggest that one has something to hide. Faced with this double bind, some dissemble or lie.

Even with recent legal protections, ultimate privacy can thus remain elusive. A patient’s medical information is not disseminated unless he or she gives permission. But if one does not agree, one will not have coverage. “If you want life insurance, you have to sign your life away,” said Ginger, who as a medical secretary, is savvier than many. “I never knew a life insurance company that didn’t ask you to give all your medical records.”

Some had in fact seen violations of privacy occur, leading to discrimination. Ginger, for instance, had seen physicians provide information to insurance companies that should not have been sent. Due to such a lapse, her brother had been denied insurance.

People with Alpha should probably tell their family doctor, but then, life insurance companies can obtain those records. In the office, we often got forms in the mail from insurance companies, wanting information on patients. But some doctors I know just copy the whole chart, and mail it. One doctor did that to my brother. An older doctor in her seventies sent the whole chart. He was denied insurance. He blamed the internist. But it was the secretary, not the internist, who sent the records to the insurance company.

INSURANCE DISCRIMINATION: WARINESS OF PRIVACY LAWS

More overt forms of discrimination occur as well. Oliver, who decided to pursue a PhD after learning of his HD mutation, said that his sister was once refused one kind of insurance as a result of their family history: “The form asked, ‘Do you or anyone in your family have one of these diseases?’ It didn’t ask which. She said yes, and was denied because of that.” Such discrimination is particularly unwarranted since family history is, of course, no guarantee of having the disease. For breast cancer, a positive genetic test alone may never lead to symptoms.

Disagreement exists about the degree to which laws can ensure the protection of privacy and information. Numerous advocates hope that GINA will prevent such discrimination, but this law does not cover life, disability, or long-term care insurance. Many people remain wary. Laws may be inherently limited in practical scope or effectiveness, and such discrimination may inevitably result because of human nature—tendencies toward selfishness and greed. Joan, the psychiatrist whose daughter had breast cancer, was pessimistic because industry can profit from information and will thus continue to seek it.

I’m basically fatalistic: You may prevent certain people from getting information, but drug companies and people who have something at stake financially are going to find ways to get what they want to know.

Laws may inevitably be limited, because human greed will invariably overcome patients’ rights. Consequently, Peter, the retired businessman who now leads an Alpha support group, feels that legal efforts must continually be made to protect privacy “because mankind, for social and economic reasons, will discriminate—misuse their knowledge of someone else’s condition.”

Others worry about the possibility of future discrimination in as yet unforeseen ways. Discrimination due to illness may be illegal, but it does happen and can be hard to prove. Before he tested negative for HD, John felt such apprehension and dropped out of graduate school:

I worried that if I were positive, a corporate chief who doesn’t know me, just sitting in the back room crunching numbers, might be worried about the liability. A woman who is young and probably going to have kids isn’t discriminated against. But society knows: if you hire this person, you might be stuck with a huge maternity leave bill. That does influence people, even good people, indirectly. It would be illegal. But I’m sure a little bit of that goes on.

Privacy of genetic information is also important because it could affect one’s children—though uncertainty enshrouds this possibility. As Rachel, whose family died in the Holocaust and who had breast cancer and the mutation, said, “This is going to follow my kids—any health insurance company will note a genetic disposition, and communicate about it in ways I’m not aware of. It’s a big black hole to me.” Confusion, ignorance, and doubt persist about current laws and their implementation.

Given economic pressures, some patients distrust not only insurance companies but also policy makers, economists, and providers. The high costs of treatment can determine what companies and the government do.

At Ginger’s office, patients do not even own their medical records. As she explained, “Patients ask, ‘Can’t you just give me my records? They’re my records?’ ‘No, the records belong to the corporation. The information is yours. But we have to copy it. We can’t give away the originals.”

Patients are keenly aware, too, of recent antiterrorism laws that can further erode privacy. Diane, the Spanish teacher, added, “Privacy is not sacred. It’s being withdrawn.” The degree to which privacy is an inalienable right is now increasingly contested.

Current privacy laws, especially HIPAA, can also be cumbersome and have unintended consequences, impeding the transmission of information between doctors. As Beatrice, the math teacher with breast cancer, commented,

A doctor calls for information, and has to jump through hoops. It’s a good policy, but when my internist wanted my information, my [oncologist] knew he was my internist, not some random person. But I still had to get releases.

Problems thus arise in how physicians each carry out the policy in daily practice. Even people who support the policy at times feel frustrated.

Others think that HIPAA has important symbolic value, and hence some effect—sending the message that privacy is significant—even if not always adhered to. Karen, the lesbian attorney, said, “These laws need to be there. They help create a standard, even if not followed all the time. But it’s unrealistic to think that a law is going to be followed, just because it’s there.”

Several factors can affect these attitudes. Personal experiences may be involved—the vulnerability of one’s economic position and future. Persons who are younger, and middle or upper-middle class, may have more to lose, and thus be more concerned. “If I were trying to move up the corporate ladder, or were younger, I might feel differently,” Beatrice, the 56-year-old math teacher with breast cancer, continued. “But given where I am, I just deal with it.”

A few others are relatively less pessimistic because of professional or personal experiences. Based on his job as a policeman, Albert has faith in law enforcement. But he could afford to trust that his HD risk would not jeopardize his job, partly since he is a member of a strong labor union, and his supervisor is a friend. “I’m close with my boss, who actually hired me, so he knows,” he explained. “He’s a friend. You probably could get discriminated against, but I [am] in a little different position.”

As suggested earlier, threats to confidentiality related to insurance companies occur against a backdrop of threats to privacy from other sources—the Internet and increasing electronic storage of financial and other records. Some believe that privacy simply no longer exists. Rachel, with breast cancer and a mutation, invoked Orwellian notions of 1984: “We’re living in a whole other world as far as privacy: The Internet and exchange of information, and the whole Big Brother theory, credit card fraud, people taking social security numbers . . .” For many, these threats blend together. Several think these threats are even worse than in Orwell’s novel, since information now takes on a life of its own—known by not only government, but vast corporations as well.

Clearly, threats to privacy concern not only health but finances. Yet threats to financial privacy are ultimately more remediable than those to health. Usually, one can merely cancel a credit card, and get a new one. Violations of medical privacy are not always as readily and permanently reversed.

RESPONSES

Resignation

Many just accept these inherent limitations to privacy. They feel that their genetic risk forces them to sacrifice confidentiality. “There’s only so much I can do,” said Laura, a freelance graphic designer with no breast cancer but a family history and a mutation. “I can keep information about my genes private, but not if insurance is going to pay for treatment.”

With Alpha, too, loss of privacy often seems inevitable, given the choices involved. “My medical supplies are delivered,” said Betty, the designer who carries an oxygen concentrator. “Neighbors can potentially see these.” The machine, too, reveals her status as a patient.

Against these larger social forces infringing on privacy, patients may feel powerless. As Ginger, the medical secretary, said,

I once worked for a doctor who said, “Give me 24 hours and I can find out everything there is to know about you: your medical history, financial history, anything.” I guess you have to accept it. What can you do? That’s the way the world is.

These tensions have broader implications for ongoing policy. These individuals recognize inherent cost-benefit calculations involved in determining how much privacy is optimal, realistic, or desired. Ginger added, “I don’t want people discriminating against my children, but you can’t afford to increase insurance rates too much. People are going to have to give up some of their privacy and some of their rights in order to keep costs normal.”

Others are willing to trade off privacy protection in return for advances in research. Scientific studies can endanger privacy, but they can also potentially yield vital benefits. “I don’t care if anybody knows, if it’s going to help someone,” Mary, the housewife, said. “I trust people, because I’m at a really good place in my life. I’m very private, but research is important—finding a cure.” In addition, she is unemployed, and hence in relatively less financial jeopardy since she cannot be fired.

Concerns about privacy could also potentially go too far, hindering treatment access. “My father is so anal about privacy, he won’t get any help,” Mary continued, “You really hurt yourself with all this privacy stuff.”

Feeling Stuck

Worry about insurance and privacy can shape other life decisions about relationships and work. Laura decided to wed because of health coverage. “My health insurance would be more protected,” she said. She has had no breast cancer, but a mutation and family history.

Alternatively, regulations and requirements can impede marriage. As Yvonne, who wants to move south, said about her Alpha,

It’s been rough on my boyfriend: Insurance issues have actually caused us never to get married. If I marry him, my insurance would cancel, or I would have to go on his. He’s on disability also. If we get married, it cuts our disability insurance in half.

She feels that insurance prevents her, too, from being able to move out of state.

I can’t move out of state, because my insurance is a [company in this state]. It doesn’t go with you. They can’t cut me off, but I can never move out of the city. I want to move to the South, because the winters are warm. . . But I’m stuck.

Patients may also stay in jobs they dislike because of anxieties about losing insurance if they switch. Fears of forfeiting disability or health insurance from a new employer impel some to feel trapped in positions they would otherwise leave. They may feel sick, but force themselves to keep working. “In the middle of chemo, I was feeling horrible,” Joyce, the spa employee with breast cancer, but no mutation, said. “But I didn’t want to lose my health insurance. So I stayed in the job, and pushed myself.”

Striving to Maintain Privacy

Others try to protect their privacy proactively in varying ways. They are often unsure how worried to be about privacy threats, and range from unconcerned to feeling paranoid, uncertain whether they should or could do anything to limit this threat. In attempting to protect their confidentiality, they fall across a spectrum from more to less aggressive.

At one extreme, some at risk for HD or breast cancer decide not to use their insurance to pay for testing, not wanting to take the risk. Others seek to hide even their risk of a disease. Therefore, some restrict the information they not only provide, but obtain. For instance, in searching for online information, some do not use their name, and instead rely only on paper. Yet in so doing, they may avoid patient groups and services, thereby incurring potential personal costs.

Others visit disease websites but remain anonymous. As Benjamin, the engineer, said about the Alpha community, “One person wouldn’t tell me their identity, but wanted to get the organization newsletter. I don’t know how the organization found me, either.” A few attempted to preserve their privacy by shredding all disease-related documents. But those who are overtly symptomatic or undergoing treatment for a disease may simply not have the luxury of protecting privacy to the same degree. Dorothy, who wheels an oxygen canister, said, “Privacy doesn’t matter to me, because I have the disease. It’s not going to go away.” As we will see, others proceed very carefully at work, trying to avoid revelations about their risk.

Whether to Use Insurance

Given these threats, these individuals face a series of Catch-22 situations related to whether to use health or disability insurance. As suggested earlier, high costs can deter testing. Some individuals decline or defer a genetic assay since they would have to either use their insurance (and hence face possible discrimination), or pay out-of-pocket, which they cannot afford to do.

Patients may also face stark tradeoffs about seeking treatment. Insurance companies might pay for a procedure if it is medically indicated, but could then nonetheless discriminate—for example, raising premiums. At times, individuals are utterly unsure how an insurance company will respond if they have testing and then surgery. For those confronting breast cancer, discrimination might occur because statistically, the recurrence of a second cancer is higher. Bonnie, who has not had breast cancer or testing though her mother and sister had the disease, said:

If I couldn’t afford treatment, and had to release the information for the insurance company to pay, I would do it. It’s twisting your arm, bullying. If they obtain information that one of their employees has cancer, they’re going to raise the rates. They’re punishing you for being sick.

Yet using health insurance could then affect whether, how much, and when one can obtain life and disability insurance. As Mildred, with breast cancer and the mutation, reported,

I used to sell life insurance and disability insurance. Everything in your medical records is in some database. Life insurance companies say, “You have to sign a form to release information.” So if I get tested only for disability insurance, I can get it, but if I become disabled because of ovarian disease, it would be excluded because I carry the breast cancer gene.

Individuals must also decide whether to apply for Social Security disability, and thus have information about their mutation further disseminated, potentially impeding their own or their offspring’s future health or other insurance. Some feel they simply had to forego privacy to access disability benefits. Mary, the housewife with HD, said,

That was a big decision: money or insurance. We didn’t know which was going to outweigh the other. Once you tell Social Security, it’s out there. There’s no turning back. Are a few extra bucks worth jeopardizing my insurance? I don’t know but I’m sure that somewhere down the line, I’m going to be screwed. The insurance company’s probably not going to pay for something I’m going to need, because I’m going to have known about it, before I switched to them.

Not Telling Insurers

Many of these individuals confront quandaries of whether to disclose genetic information to insurers. Some would simply not tell insurance companies about genetic test results. Harriet, an African American schoolteacher with a family history of breast cancer but no symptoms and an indeterminate test result, is wary of discrimination and said she would feel justified in withholding all genetic information, because the insurance company would interfere with her doctors’ decisions. “If the test was positive, I wouldn’t tell the insurance company,” she said, “because I don’t want them making decisions about my health.”

Several anticipate that they will simply leave questions blank on insurance forms, though this strategy might be impossible or backfire. Ron, the motorcyclist, said,

For disability insurance, I could have passed the physical exam. But, if I do come down with HD, they’re going to know that I knew about HD or had reason to believe, because my brother and father died of it.

Some feel that the major privacy concern they face is their children being denied health insurance in the future. As a result, these patients admonish their adult offspring to avoid volunteering any information unless absolutely necessary. Ginger said,

Privacy is a concern not for me, but for my children. I told them, “When you apply for life insurance or a job, don’t tell them anything that they don’t ask about.” No one’s going to ask, “Do you carry the gene for breast cancer or Alpha?” I don’t volunteer any information. If they say, “Do you have any diabetes in the family?” you have to tell the truth. If they ask, “Any breathing problems in your family?” tell them your mother has emphysema, but don’t mention that it’s genetic. You’re not lying.

Many feel few qualms, since insurance companies compel patients to dissemble. “These companies put people in a bad position,” Peter, the retired businessman who now leads an Alpha support group, added. “So, I say: tough on these companies, because they are the ones who have caused this problem.”

Nonetheless, others do not feel that lying is a viable option. In fact, some who dissembled to insurance companies have been caught. Simone, the bookkeeper who only learned of HD when getting engaged, said,

After my dad was diagnosed with HD, my mother tried to get life insurance. She paid into it for 10 years. When he died, she tried to collect. They reneged, because she had known he had HD. They wouldn’t pay out. They gave her back all the premiums she paid.

Hence, some patients advise at-risk individuals to test anonymously through a research study, and if one has the mutation, to buy insurance. Nevertheless, others defer from doing so. They fear trying to get insurance after testing—even in a study—because that would be dishonest and potentially punishable.

Because of these perceived needs for secrecy, Peter is not even sure whether his two daughters have been tested for Alpha, and if so, what the results are. “I think they got themselves tested, but it wasn’t broadcast. Nothing said is better.”

Still, within the complex dynamics of families, such preferences for ignorance may not be followed. Secondary disclosure may occur. Laura, the freelance graphic designer who has a breast cancer mutation and a family history, but no symptoms, said,

I assumed that if my mom didn’t tell me she was negative, she probably was positive. I didn’t want to officially know, because if anyone asked me, I wanted to be honest and say I didn’t know. I got mad at my sister because she told me. I said, “I didn’t want to know!”

Lying to Doctors

Patients also face dilemmas of whether to divulge genetic risks or test results directly to medical providers, and if so, to whom, when, and what to disclose. Though many readily disclose, others are far more apprehensive and make difficult risk-benefit calculations.

Some will tell a doctor only if they judge the information to be directly relevant. For Alpha, for instance, Ginger averred that patients should not always give physicians information. “If you have no breathing or liver problems, I wouldn’t mention it, unless your doctor says, ‘Your liver enzymes are elevated.’ Then,” she said, “you almost have to, or they may not find out the truth.’

Individuals may not disclose to all their doctors, and instead assess which particular physicians to tell. Even patients with apparent symptoms might inform providers only partially. One criterion is the degree to which patients see disclosure to a specific doctor as possibly leading to insurance or employment discrimination. Some choose which physicians to tell based on insurance—for instance, not telling those who are covered by an employer’s insurance company. Tim, as a lawyer, defended his decision to suppress information because of the risks involved.

I just don’t think that it’s really relevant, or that doctors need to know. They might tell the HMO or my employer, or the HMO might try to increase how much my employer pays for insurance. I don’t like the risk.

Others must make more nuanced distinctions between their doctors, based, for example, on whether the physician seems trustworthy, and how he or she treats other family members. Evelyn, who consulted a psychic when her husband opposed HD testing, said, “I don’t know if my family doctor knows. I told my pediatrician, because when you trust your kids to a doctor, you almost put their doctor above your own doctor.”

Patients may tell only if they sense that clear benefits can be gained. But as a result, GPs may not be informed. However, assessments of these benefits versus these risks can be subjective, as patients try to gauge whether knowledge of a mutation will unduly bias physicians’ assessments. In the process, rationalizations may arise. Simone, who only learned of HD in her family when getting engaged, said,

I don’t tell anybody unless there is something that can be obtained or achieved. If our GP can’t do anything, which we know he can’t, why tell him? If I see him, and he doesn’t know, he’s going to treat me for whatever ailments I have. He won’t start blaming everything on HD.

She continued her secrecy, though not to the degree that her mother had.

Some simply don’t trust practitioners with the information. GPs may also be perceived as unreliable (e.g., because of not keeping track of all past medical details).

But patients’ assessments of providers may not be entirely accurate, and bad medical practice can result. Physicians may work in the dark, unaware of a patient’s actual diagnosis. Simone continued,

A gynecologist sent me to a specialist. I just said I had a physically handicapped brother and MS in my family. This went on almost a year, going to these different specialists, and making up stories about the family history. It wasn’t until one of them suggested that I go to an HD specialist. I kept saying that I didn’t know it was HD. I was trying to get them to suggest it, rather than me saying it. I was buying insurance, so really didn’t want to know, until I had that sorted out. I never told my GP. I was afraid that he might write it down.

Excluding Genetic Information from the Medical Chart?

Patients wonder, too, whether to request that genetic information be excluded from their medical record. Such information can potentially help future physicians make decisions, but can also pose dangers. Others remain unsure of how to even broach the topic with physicians. On the one hand, some feel that the inclusion of genetic information in the medical chart is inevitable. “The genetic test has to be in my medical record,” said Diane, the Spanish teacher with cancer but no mutation. She cannot conceive of an alternative, and feels that the data could be beneficial.

Yet genetic counselors and patient advocacy groups may encourage patients to request exclusion of such information. Still, to do that can be hard. Patients have to assess when to try to stop doctors from including it. Isabelle, the social worker with breast cancer and a mutation, said, “When they told me I had the gene, they said: make sure doctors don’t put it in your record. In the beginning, I used to be on top of it: ‘Oh, you’re not writing it down . . .?’ Since then, I don’t.” Even for her, as a social worker familiar with medical records, such protective efforts can take too much effort. Over time, individuals’ concerns and gumption can also vary.

Health care professionals differ as well in their sensitivity and approaches concerning the storage of genetic information. Patients and their providers may agree or disagree on how the information should be handled. At times, physicians themselves may volunteer to exclude genetic information from a patient’s medical file—without patients even asking. Karl said, “My doctor didn’t put in my record that HD was in the family, at her suggestion. She volunteered to exclude it—I didn’t ask.”

For breast cancer, too, health care workers may simply leave genetic information off the record. Rhonda, the nurse with breast cancer and a mutation, reported, “The genetic counselor or oncologist said, ‘Oh, that really shouldn’t be in the chart, because you don’t want to worry about insurance.’”

Alternately, physicians may obfuscate and hide genetic information. As Carol, with breast and ovarian cancer, explained, “It’s cryptic on my chart that I’m BRCA1 positive.” Practitioners may use a broad generic term rather than a specific diagnostic label. Brian, whose wife pushed him to test for HD after a distant relative called him, and who now has symptoms and the mutation, said, “In his records, my doctor is not using the word ‘Huntington’s,’ but a generic term that covers lots of things.”

Some GPs keep genetic information separately, but such precautions are not always foolproof. Staff may not appreciate the potential problem, and patients may thus remain wary. Ron, with the HD mutation, said,

A note is in my file on a loose piece of paper that the doctor can pull out if he has to send anything to insurance companies. He tells me that’s what he does. But he sees 1,500 people. Is he going to remember? What if he is away, and his secretary sends it in, or he forgets? I don’t have any great trust.

Physicians employed other strategies as well—for instance, giving test results to family members, but not to patients themselves. Jennifer, the schoolteacher with Alpha, said,

One doctor I know tests people for Alpha for free, and doesn’t write it down anywhere. He will never tell you the results, but will tell a family member, because employers may ask, “Have you ever been told you have a genetic disease?” You can then say no.

Patients often need to arrange and negotiate for such nondocumentation themselves, but these requests can be easy or hard, and be followed or rejected. Evelyn encountered little resistance: “I told the pediatrician, ‘I need you to know something, but I don’t want it in the chart.’ He said, ‘Absolutely. I’m glad you told me.’”

But this secrecy can prompt difficult or awkward situations. A physician may care for other family members, necessitating firewalls that may or may not be fully safe. Evelyn continued, “My doctor also treats my nieces and nephews. He assured me he’s not writing it their charts, but knows they’re at risk.” Evelyn in fact mentioned her nieces’ and nephews’ risk to her children’s pediatrician before her siblings agreed for her to do so.

But doctors may not all be as sensitive, or cooperative with patients’ requests to separate genetic information from other medical records. Providers may simply refuse. Mildred, who used to sell insurance and now has breast cancer and a mutation, reported, “I asked my doctor not to put the genetic testing results in my file. She said, ‘Why?’ I said maybe I can’t get a health insurance or something. She said, ‘Well, that’s not going to happen.’” Mildred did not feel able to push her point further. John, too, who dropped out of graduate school and later found he lacked the HD mutation, tried to push the same request, but to no avail.

I had a fight with my primary care doctor. When I tried to get some insurance I said, “Don’t tell them about HD.” He gave me some legal jargon about, “Well, if they ask me, I’m legally obliged to.” So I just stopped seeing him, and decided never to mention HD to a general practitioner again.

He changed providers, and lied about his prior physician to his next doctor.

To block transmission of already documented information can be virtually impossible. Once data has entered the medical records, it appears irremovable. Often, when patients inquired about deleting information from the chart, neither providers nor insurers knew how to respond. Rachel, with breast cancer and a mutation, tried to expurgate such information. Her hospital’s patient services office was not helpful. But luckily, a specialized medical privacy officer eventually aided her. In the end, she proceeded even further, and attempted to “clean up” her records herself. She illustrates the need to enhance education about these issues among patients, providers, and others.

I had my genetic testing done, and was advised by the counselors, “Tell doctors you talk to not to write this down, or put it in any medical records.” My husband is an insurance investigator, so he knows that if you need copies of somebody’s medical records, you get them. I had no problem insisting to my doctors that they not write it down—except for one doctor, about whom my oncologist said, “He’s a little rough around the edges, but is a good doctor.” In trying to get an appointment to see him, his staff didn’t want to put me on his schedule until they knew the exact reason. I said, “Well, I don’t want to tell you.” So, I had my oncologist call him directly. I told her, “Just make sure you mention that he should not write this down.” I went to see him, and said, “I have this particular mutation.” He wrote everything down. I said, “Please don’t write that down.” He said, “You have complete control over what anybody sees in your medical records. All you have to do is exclude certain parts of what you give access to.” I thought, “O.K., he’s a doctor. He knows everything. Though this goes against everything I have been told, I guess I’ll go along with it.” When I walked in his office, I had not had enough time to sign in. The receptionist had said, “When you come out, we’ll do your paperwork.” So, when I walked out, there was a sheet to give the doctor’s office authorization to bill my insurance company. The last sheet is about privacy. I said, “Shit.” Now, what am I supposed to say? “. . . Except that part that says BRCA2 mutation”? My husband later said, “You shouldn’t have signed it!” But could I have made the doctor stop writing? I don’t think he understood the potential problem. Would a health insurance company raise my rates? Could it affect my children? I walked out, feeling like a fool: “Dammit. Now I’ve got a lot of work to do.” I told patient services: I’d like that stricken from my records. Blacked out. She said, “Well, what do you want me to do?” I said, “I don’t know, talk to the doctor.” The representative said it really wasn’t completely under her jurisdiction. She later said, “We have spoken to the doctor’s office.” I didn’t feel very comforted. I called the privacy officer, whose name was on the back of the privacy sheet. He had me send a note to the doctor’s office, saying, “Please strike these particular references in my record.” Now, I have to ask for copies of my records, which is going to cost me money, to see how they photocopy it. It’s caused me a lot of work. People were trying to help, but there wasn’t a lot they could do.

Linda, the art teacher who eventually tested mutation-negative for HD, went even further, and actually stole part of her record.

My whole “at risk” status didn’t really sink in until after my son was born, when I suddenly needed to get life, disability, and long term care insurance. Suddenly, I had a horrifying realization that I had just gone around spouting off the HD information to any doctor who would listen. When they had asked me about my parents, I told them. So I tried to clean up my paper trail. I had all the records sent to me from my primary care doctor. On every page was: “HD risk,” “father had HD.” It was my fault. I wasn’t educated about it. No one sat me down and said, “You are allowed to lie to a doctor, to not tell the truth.” I was determined to clean it up, and get insurance, no matter what. My doctor couldn’t delete the records, but put a cover letter on the file—a big post-it to her staff—“Don’t fax these to anyone, if anyone calls.” We had a back-up plan, where she would write a letter stating my decent health to any insurance company that asked.

I also went to the birthing center where I had had my son. They wouldn’t fax me the file because it was huge. They wanted me to pay for them to copy and send it to me. I said, “I’ll come down and look at it.” So I found myself sitting in a little cubbyhole with this huge fat file that said “HD risk” on every other page. My heart was pounding for 45 minutes, looking through it. Then I just decimated the file. I went through and took out every page that had HD on it. I tucked them in my pocket, and returned the file. I’m generally not such a thief. But they weren’t my physicians anymore. I thought “What the hell? This is mine! It belongs to me. I’m the one who coughed it up.” It would get in the way of me getting life insurance. After that, I left my primary care doctor, and saw a new doctor. I started a new file there.

But lying to doctors is hard to learn—going to these new doctors and not telling the truth. It gave me a sense that the universe was falling apart, and there was no stability. To have a nice gentle professional person who is supposed to take care of you, look you in the eye and ask you a very serious question about your health, and you’re not able to tell them the truth! I felt there is no safety. I can’t tell someone who is supposed to be looking after my body the truth about what might be going on with it. I don’t like stealing, lying. But what is the most ethical thing to do? Make sure I get insurance for my kids! I felt exhilarated because I had done something proactive to take it back into my own hands, not just be terrified that information out there was going to screw my kid.

“There’s only privacy,” she concluded, “if you make it.” But she also emphasizes the need for providers to discuss these issues with patients in advance. She believes that the information belongs to her. But as Ginger pointed out earlier, it is not clear that this argument is in fact correct. Morally, the information is easily seen as hers; legally, however, the records may be said to belong to the clinic. Competing legal claims related to professional responsibility and accountability may undermine her moral intuitions.

In either case, even for Linda, it is hard to lie, since to do so erodes the trust and sanctity of the doctor-patient relationship. She added,

A support group advised me that I could just play dumb. When doctors ask, “What did your father die of?” just say, “Oh, I don’t know. Pneumonia? We weren’t that close.” I felt I was betraying my father. I knew what he died of. If you can’t tell the doctor the truth about that, how are you supposed to trust them?

Importantly, insurance companies thus undermine doctor-patient relationships and trust.

Patients face quandaries of how far to go in trying to protect their privacy—whether to alter death certificates, too. She continued,

Someone suggested I could have embarked on a long red-tape journey to change the death certificate. But at that point, I was just going to apply for the insurance, and hope they don’t investigate. I had strung my emotional rope out for as long as it could go—six months. I couldn’t go any further.

Such efforts require energy, while one simultaneously faces other testing and treatment decisions. The actual physical and psychological costs entailed could outweigh the risk of future discrimination.

CONCLUSIONS

The dual goals of obtaining health care and avoiding discrimination can clash. These men and women fear threats to both their insurance and privacy, and respond in varied ways, from resignation to refusing to reveal their genetic risks to insurers or physicians.

Discrimination can be indirect, implicit, and subtle, making it hard to prove, which in turn can have several critical implications. Many remain wary of laws meant to protect them. Fears of discrimination can impede not only genetic testing and research but disclosures, treatment, and major career and life decisions, causing stress that could potentially exacerbate illness. These fears can even trump desires for testing and treatment. Privacy concerns can hamper relationships with family, friends, and others. While some hoped for the development and implementation of stronger policies, others thought that they had to manage these issues on their own. They could not trust providers or policy makers—only themselves.

Yet wide and profound confusion about health insurance persists—for example, what insurance companies are required to offer. Misunderstandings, uncertainty, and fear regarding the law, exacerbated by mistrust of insurance companies, can trigger fears of possible discrimination that may or may not be realistic but nevertheless prevail, and potentially impede individuals in pursuing testing and treatment. Such wariness and unsurety can lead individuals to take unnecessary precautions that heighten stress.

Privacy may be more of a concern to those who feel they have more to lose, because of precarious insurance or jobs. Yet almost all here fear these possible dangers to some degree.

Many feel that no one has prepared them to handle these issues. Education on privacy has been suboptimal—but hopefully will increase.

These interviewees highlight, too, the critical need for laws to cover long-term care, life, and disability insurance. Policy makers may distinguish between discrimination faced by asymptomatic and symptomatic individuals, and define genetic discrimination as referring only to that faced by the former, but the individuals here suggest several complications. Importantly, these interviewees tend not to see this differentiation as distinctly or sharply. In part, these disorders have intermediate gray areas—possible (but not definitive) or nonspecific symptoms. For instance, those at risk for HD but untested may be difficult to get along with, which may, only in retrospect, be seen as an early, nonspecific symptom of the disease. Yet these interpersonal difficulties may nonetheless prompt discrimination.

Similarly, exposures to environmental irritants may precipitate symptoms in otherwise asymptomatic individuals at-risk for Alpha. Thus, the distinction between symptomatic and asymptomatic may not be wholly clear, and individuals may face discrimination due to symptoms that are not yet recognized as resulting from a genetic disorder. Moreover, symptomatic and asymptomatic individuals are frequently members of the same families and patient communities. Fear of discrimination against symptomatic individuals may heighten anxieties among their asymptomatic family members, affecting the latter’s decisions. Fears also arise here among individuals who have not been to genetic counselors.

These results mirror efforts historically to eliminate other kinds of discrimination—for example, to address civil rights in the 1960s, and discrimination based on gender and sexual orientation. These prior endeavors illustrate how discrimination has not disappeared after any single piece of legislation but rather has required decades of battles regarding implementation, and additional laws to rectify problems and alter attitudes. In each of these past examples bias has nonetheless continued, despite initial legislation.

I conducted these interviews before GINA came into effect, and while that law represents an important advance, these data suggest several concerns. Subtle discrimination, for instance, may make it too early for patients to risk discrimination by disclosing fully and widely. To assess GINA’s full eventual effects, benefits, and limitations is premature. But it is crucial that this legislation does not inadvertently promote a false sense of security. In upcoming years the amount of discrimination could potentially increase because of GINA, as patients may now feel it is safer to begin to disclose more. Employers may feel it is permissible to engage in more discrimination because it is not necessarily detected or detectable, and thereby punishable. Indeed, the fine for violation of GINA is only $300,000, which may cost some employers less than a patient’s ongoing treatment. Therefore, some companies may feel that it is cheaper to discriminate and merely pay the fine if caught.

Just as the ADA has been found over the years to generate numerous ambiguities, GINA, too, will no doubt pose uncertainties that need to be closely monitored and addressed. Discrimination depends on the presence of unjust or prejudicial treatment. Yet definitions of justice and of being “pre-judged” vary widely,10 and are inherently open to differing interpretations and individual perceptions.

These issues become increasingly important as genetic information expands and, despite its ambiguous meanings, is sought, and potentially used by insurers as bases for discrimination. Many of us may soon have to confront these concerns regarding ourselves, our family, or others we know.