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Professional obligations when patients pay out of pocket
During a long-overdue routine check-up with a 65-year-old Caucasian patient we’ll call Dan, you discover his blood pressure is 150/90—this, despite the prescription you wrote for him nearly a year ago. When you recommend that he increase the daily dose and suggest he may want to try a newer drug, he tells you he never filled the original prescription. Soon it’s apparent that he and his wife, who has diabetes, hypercholesterolemia, and severe arthritis, have been deciding which medicines to take and how often to schedule visits based on their monthly budget.
This is one of countless common scenarios playing out as a result of consumer-directed health care (CDHC), the latest movement in the constant struggle to control the costs and improve the quality of health care. CDHC uses mechanisms like steeply tiered co-payments, high deductibles coupled with health savings accounts, and reduced coverage (such as the infamous “donut hole” in Medicare Part D) to compel patients to spend their own money, not insurance money. This approach is intended to give patients more “skin in the game” so that they look harder for thriftier options and accept only treatments they really think are worth the money.1,2
CDHC may be wise; it may be foolish. But many patients must use it, and they urgently need their doctors’ help. This asks a lot of you, but the medical profession has a long and honorable tradition of pursuing what is best for patients, not just what is most cost-effective.3 Patients’ modest understanding of health insurance, providers, and medicine rarely equips them to make medically and financially prudent decisions. For sound information and sage guidance, your patients must rely on you, their physician. In other words, under CDHC, patients present not just with medical symptoms and a social history, but also with a financial condition.
So what kinds of practical and ethical problems does this create? Official oracles of medical ethics are virtually silent, yet patients have paid their own costs from time immemorial, and much can be learned from the collective wisdom of doctors’ accumulated experience.4
With this in mind, we interviewed a convenience sample of 7 primary care physicians in North Carolina who treat lower-income patients (3 in family practice, 2 in geriatrics, 1 in internal medicine, and 1 in pediatrics), and we reviewed the relevant professional ethics literature.5-10 From this body of practical and professional knowledge, we synthesized the following principles and strategies.
Talking about money is fraught with difficulty
If you are to help patients in the new consumerist health care world, you need to know to what extent money is an issue for a patient. But both doctors and patients often dislike discussing money.11,12 In 1 study, women were more uncomfortable talking about their income than their abortion.13 Many patients hesitate to broach the topic for fear of offending their doctor, who recommends services and may be selling them.11,14 And many doctors fear that mentioning costs during examination and treatment will alienate patients who take offense at, or misunderstand the motives behind, discussions of money.11,15
Medical anthropologist Howard Stein even suggests there is a “taboo in official American health culture: namely, a prohibition upon allowing the physician to appear concerned with financial matters” because introducing money violates “the sacred by the profane.”16 Nevertheless, the purpose of CDHC is precisely to place cost in the front of patients’ minds. So patients may be grateful for help in acknowledging the elephant in the room.
Approach finances as forthrightly as you would a potentially embarrassing clinical problem. You can work to help patients feel comfortable discussing costs by treating financial issues in the same matter-of-fact way you address sexual concerns.17 One doctor we interviewed at a low-income clinic said that his patients may be ashamed or embarrassed to acknowledge their financial problems. So he normalizes cost concerns by routinely asking patients if insurance coverage will be an issue—gracefully putting the discussion more in terms of third party rules than the patient’s ability to pay.
Other doctors we interviewed recommend watching for clues patients give when they are concerned about costs, just as doctors attend to patients’ clues about clinical problems.18 Patients may, for example, delay scheduling visits or neglect to fill prescriptions. As a fine doctor said a century ago, “Just remember that people generally care little how you collect your facts. They want to help you to help them, and are ready to accept your methods, especially if tactfully applied.”19
Patients often feel relieved to address cost problems, but finding out exactly what financial obligations a patient faces can be challenging. Different health plans allocate costs between patient and insurer in dismayingly different ways. Furthermore, those allocations fluctuate depending on each policy’s annual cycle of deductibles and out-of-pocket limits, which in turn depend on each patient’s renewal date. Patients are better situated than doctors to know the particulars of their own plans, but most people find their insurance baffling. Advances in information systems someday will prune this thicket, but today insurance coverage must often be added to the list of concerns about which doctors need better information.
Share your knowledge of treatment costs. If patients who pay out of pocket really are to make wise economic and medical choices, they need to know what tests and treatments cost.20 This information, too, may be elusive. For instance, physicians often are unfamiliar with, or mistaken about, the plethora of drug prices. One literature review reports, “With…the median [physician’s] estimate 243% away from the true cost, many of the estimates appear to be wild guesses.”21 And hospital charge masters are impossible to master. They can list more than 40,000 items whose prices are negotiated by insurance companies in a tumultuous market that regards prices as trade secrets.22
Precision may be unachievable, but there is room at least for a better understanding of large-magnitude cost differences. For instance, physicians we interviewed said that their computers or handheld devices provide basic information about the costs of prescription drugs, and some states and leading insurers are starting to post comparative provider and procedure prices online.23 Without these aids, doctors still appear very able and practiced in discussing the costs of different options in general qualitative terms, even if they lack exact price information.
How to factor cost into your discussions of treatment
The law of malpractice enforces the medical profession’s minimum standards for treatments, and the culture of medicine expects doctors to provide the best care available—to apply the gold standard of treatment. Patients (and perhaps juries) share that preference. But CDHC gives patients reasons to seek something less than the gold standard.
So once approximate costs are known, how should you factor them into discussions about treatments? When care is needed, do you merely inform the patient of less expensive options but always recommend the optimal one? When might you press a more effective option on a reluctant patient? Once again, these questions raise dilemmas doctors know all too well.24,25 You face them every day when patients assert other reasons to refuse treatment, like discomfort or inconvenience, or when their reticence amounts to little more than caprice. Here are 3 situations to consider:
When some treatment is better than none at all. The easiest situation arises when a more expensive option would be superior in an ideal world, but not in the real world. Sometimes, the best can be the enemy of the good. For example, if a patient who is offered only the medically optimal treatment leans toward forgoing treatment altogether, doctors often recommend a suboptimal but still useful alternative.26 Based on examples we heard, a physician might order a generic medication to control blood pressure when much costlier options are only moderately more effective, or an x-ray rather than a computed tomography scan, or 1 return visit rather than 2.
But what about malpractice liability for suboptimal care? Within reasonable ranges of professional judgment, the liability threat is not serious, since there are 2 legal defenses:27
- If a less expensive treatment, or no treatment at all, is within the broad prevailing standard of care or a recognized alternative school of thought, then doctors may recommend this, even if it is not the course they normally counsel.
- Even substandard options are defensible if reasonably well-informed patients understand their options and reject the doctor’s first recommendation.
When medical consequences of refusing a treatment are not dire. A second situation is also comparatively easy, at least in theory. Where the long-term medical outcomes are not dire and patients experience the health consequences directly, patients can reasonably be left to make suboptimal choices. Examples we were given include physical therapy or pain control. When a patient is considering direct-impact, lower-stakes treatments, a doctor should not feel great ethical or liability qualms in acceding to the patient’s wish to sacrifice health for wealth.
When a patient’s decision and your opinion are at odds. In the third category, physicians’ role as healers conflicts with their role as patients’ agents.28,29 If you suspect that a cost-reluctant patient can afford the gold standard and the patient chooses the pyrite standard, what should—or may—you do? This, too, is a variant of a familiar problem: Even well-informed patients may make bad decisions. To cope, doctors have developed an array of techniques (from soft to firm) that can be applied when decisions seem “penny wise and pound foolish.”30
First, and most coercively, doctors can simply refuse to treat a noncompliant patient. Except in emergencies, this is professionally and legally permissible; however, it is hardly ideal. When patients flatly cannot afford decent care, doctors often help by discounting fees or by arranging financial assistance.31
When patients are simply penurious rather than penniless, doctors can try arguing a patient into a wise choice. This tactic is not necessarily impermissible paternalism; it can be an act of respect and friendship. In our interviews, for instance, 1 doctor told a woman who balked at a mammogram that he was scheduling it anyway. Another called a taxi to drive a patient directly to the hospital out of concern that she might just go home. Yet another doctor enlisted family members in convincing recalcitrant patients. In sum, doctors dance a delicate dance to accommodate patients’ ambivalent wants and ambiguous needs.
Finding a new balance
You can accommodate the theory and policy of CDHC by acceding to a patient’s desire to pay less and get less.32 Professional obligations can be met by recommending the same care to each patient with a given condition, but informing patients of the costs and consequences of alternatives. Properly documented, these economically impartial conversations should protect physicians from malpractice liability. However, you need not go as far as having patients sign “Against Medical Advice” forms in order to continue seeing those who refuse optimal care. Doctors we interviewed thought it would be excessive to do this routinely and would threaten good relationships with their patients.
Unavoidably, solving consumerism’s problems will require conversations between you and your patients that take time—time that is already maddeningly limited. “Current practice guidelines for only 10 chronic illnesses require more time than primary care physicians have available for patient care overall.”33 For preventive care alone, providing all recommended services “to a panel of 2500 patients could require up to 7½ hours a day of physician time.”34
Furthermore, some doctors may feel that expecting patients to pay more out of pocket is an unwise policy. That may be right; even well-intentioned social reforms sometimes make ill-conceived demands of professionals. But rightly or wrongly, our political economy, having resisted managed care (at the urging of doctors and patients), has accepted consumerism as another means to restrain unsustainable spending. In public policy forums, doctors may argue against government or market initiatives, but in clinical forums, there is a professional obligation to cooperate with prevailing social policy—especially when the policy forges the interests that patients bring to the examination room.
Acknowledgments
This work was supported by a Robert Wood Johnson Foundation Investigator Award in Health Policy Research. The views expressed imply no endorsement by that foundation.
CORRESPONDENCE Mark A. Hall, JD, Wake Forest University, Division of Public Health Sciences, Medical Center Blvd., Winston-Salem, NC 27157-1063; hallma@wfu.edu
1. Robinson JC. Reinvention of health insurance in the consumer era. JAMA. 2004;291:1880-1886.
2. Bloche MG. Consumer-directed health care. N Engl J Med. 2006;355:1756-1759.
3. Shrank WH, Asch SM, Joseph GJ, et al. Physicians’ perceived knowledge of and responsibility for managing patients’ out-of-pocket costs for prescription drugs. Ann Pharmacother. 2006;40:1534-1540.
4. Hall MA, Schneider CE. Learning from the legal history of billing for medical fees. J Gen Intern Med. 2008;23:257-260.
5. Cassel CK. Doctors and allocation decisions: a new role in the new Medicare. J Health Polit Policy Law. 1985;10:549-564.
6. Weiner S. “I can’t afford that!” Dilemmas in the care of the uninsured and underinsured. J Gen Intern Med. 2001;16:412-418.
7. Hurst SA, Hull SC, DuVal G, et al. Physicians’ responses to resource constraints. Arch Intern Med. 2005;165:639-644.
8. Hurst SA, Slowther AM, Forde R, et al. Prevalence and determinants of physician bedside rationing: data from Europe. J Gen Intern Med. 2006;21:1138-1143.
9. Whitney SN, McCullough LB. Physicians’ silent decisions: because patient autonomy does not always come first. Am J Bioeth. 2007;7:33-38.
10. Mort E, Edwards JN, Emmons D, et al. Physician response to patient insurance status in ambulatory care clinical decision-making. Med Care. 1996;34:783-797.
11. Schneider CE, Hall MA. The patient life: can consumers direct health care? Am J Law Med. 2009;35:7-65.
12. Alexander GC, Casalino LP, Meltzer DO. Patient-physician communication about out-of-pocket costs. JAMA. 2003;290:953-958.
13. Becker-Blease KA, Freyd JJ. Research participants telling the truth about their lives: the ethics of asking and not asking about abuse. Am Psychol. 2006;61:218-226.
14. Alexander GC, Casalino LP, Tseng CW, et al. Barriers to patient-physician communication about out-of-pocket costs. J Gen Intern Med. 2004;19:856-860.
15. Federman AD. Don’t ask, don’t tell: the status of doctor-patient communication about healthcare costs. Arch Intern Med. 2004;164:1723-1724.
16. Stein HF. The money taboo in American medicine. Med Anthropol. 1983;7:1-11.
17. Hardee JT, Platt FW, Kasper IK. Discussing health care costs with patients: an opportunity for empathic communication. J Gen Intern Med. 2005;20:666-669.
18. Alexander GC, Tseng CW. Six strategies to identify and assist patients burdened by out-of-pocket prescription costs. Cleve Clin J Med. 2004;71:433-438.
19. Shattuck FC. The science and art of medicine in some of their aspects. Boston Med Surg J. 1907;157:63-67.
20. Wilkes MS, Schriger DL. Caution: the meter is running informing patients about health care costs. West J Med. 1996;165:74-79.
21. Allan GM, Lexchin J, Wiebe N. Physician awareness of drug cost: a systematic review. PLoS Med. 2007;4:1486-1496.
22. Hall MA, Schneider CE. Patients as consumers: courts, contracts, and the new medical marketplace. Mich Law Rev. 2008;106:643-689.
23. Austin DA, Gravelle JG. Does price transparency improve market efficiency? Implications of empirical evidence in other markets for the health sector. Congressional Res Service, April 29, 2008. Available at: www.fas.org/sgp/crs/misc/RL34101.pdf. Accessed October 9, 2009.
24. Meyers DS, Mishori R, McCann J, et al. Primary care physicians’ perceptions of the effect of insurance status on clinical decision making. Ann Fam Med. 2006;4:399-402.
25. Pham HH, Alexander GC, O’Malley AS. Physician consideration of patients’ out-of-pocket costs in making common clinical decisions. Arch Intern Med. 2007;167:663-668.
26. Reichert S, Simon T, Halm EA. Physicians’ attitudes about prescribing and knowledge of the costs of common medications. Arch Intern Med. 2000;160:2799-2803.
27. Hall MA, Schneider CE. Physician liability when patients refuse to pay for recommended care. Conn Law Rev. 2009;4:743-780.
28. Alexander GC, Hall MA, Lantos JD. Rethinking professional ethics in the cost-sharing era. Am J Bioeth. 2006;6:W17-W22.
29. Gafni A, Charles C, Whelan T. The physician-patient encounter: the physician as a perfect agent for the patient versus the informed decision-making model. Soc Sci Med. 1998;47:347-354.
30. Carrese JA. Refusal of care: patients’ well-being and physicians’ ethical obligations: “But doctor, I want to go home.” JAMA. 2006;296:691-695.
31. Hall MA, Schneider CE. The professional ethics of billing and collections. JAMA. 2008;300:1806-1808.
32. Hall MA. Paying for what you get, and getting what you pay for. Law Contemp Probl. 2006;69:159-180.
33. Ostbye T, Yarnall KS, Krause KM, et al. Is there time for management of patients with chronic diseases in primary care? Ann Fam Med. 2005;3:209-214.
34. Goodson JD. Unintended consequences of resource-based relative value scale reimbursement. JAMA. 2007;298:2308-2310.
During a long-overdue routine check-up with a 65-year-old Caucasian patient we’ll call Dan, you discover his blood pressure is 150/90—this, despite the prescription you wrote for him nearly a year ago. When you recommend that he increase the daily dose and suggest he may want to try a newer drug, he tells you he never filled the original prescription. Soon it’s apparent that he and his wife, who has diabetes, hypercholesterolemia, and severe arthritis, have been deciding which medicines to take and how often to schedule visits based on their monthly budget.
This is one of countless common scenarios playing out as a result of consumer-directed health care (CDHC), the latest movement in the constant struggle to control the costs and improve the quality of health care. CDHC uses mechanisms like steeply tiered co-payments, high deductibles coupled with health savings accounts, and reduced coverage (such as the infamous “donut hole” in Medicare Part D) to compel patients to spend their own money, not insurance money. This approach is intended to give patients more “skin in the game” so that they look harder for thriftier options and accept only treatments they really think are worth the money.1,2
CDHC may be wise; it may be foolish. But many patients must use it, and they urgently need their doctors’ help. This asks a lot of you, but the medical profession has a long and honorable tradition of pursuing what is best for patients, not just what is most cost-effective.3 Patients’ modest understanding of health insurance, providers, and medicine rarely equips them to make medically and financially prudent decisions. For sound information and sage guidance, your patients must rely on you, their physician. In other words, under CDHC, patients present not just with medical symptoms and a social history, but also with a financial condition.
So what kinds of practical and ethical problems does this create? Official oracles of medical ethics are virtually silent, yet patients have paid their own costs from time immemorial, and much can be learned from the collective wisdom of doctors’ accumulated experience.4
With this in mind, we interviewed a convenience sample of 7 primary care physicians in North Carolina who treat lower-income patients (3 in family practice, 2 in geriatrics, 1 in internal medicine, and 1 in pediatrics), and we reviewed the relevant professional ethics literature.5-10 From this body of practical and professional knowledge, we synthesized the following principles and strategies.
Talking about money is fraught with difficulty
If you are to help patients in the new consumerist health care world, you need to know to what extent money is an issue for a patient. But both doctors and patients often dislike discussing money.11,12 In 1 study, women were more uncomfortable talking about their income than their abortion.13 Many patients hesitate to broach the topic for fear of offending their doctor, who recommends services and may be selling them.11,14 And many doctors fear that mentioning costs during examination and treatment will alienate patients who take offense at, or misunderstand the motives behind, discussions of money.11,15
Medical anthropologist Howard Stein even suggests there is a “taboo in official American health culture: namely, a prohibition upon allowing the physician to appear concerned with financial matters” because introducing money violates “the sacred by the profane.”16 Nevertheless, the purpose of CDHC is precisely to place cost in the front of patients’ minds. So patients may be grateful for help in acknowledging the elephant in the room.
Approach finances as forthrightly as you would a potentially embarrassing clinical problem. You can work to help patients feel comfortable discussing costs by treating financial issues in the same matter-of-fact way you address sexual concerns.17 One doctor we interviewed at a low-income clinic said that his patients may be ashamed or embarrassed to acknowledge their financial problems. So he normalizes cost concerns by routinely asking patients if insurance coverage will be an issue—gracefully putting the discussion more in terms of third party rules than the patient’s ability to pay.
Other doctors we interviewed recommend watching for clues patients give when they are concerned about costs, just as doctors attend to patients’ clues about clinical problems.18 Patients may, for example, delay scheduling visits or neglect to fill prescriptions. As a fine doctor said a century ago, “Just remember that people generally care little how you collect your facts. They want to help you to help them, and are ready to accept your methods, especially if tactfully applied.”19
Patients often feel relieved to address cost problems, but finding out exactly what financial obligations a patient faces can be challenging. Different health plans allocate costs between patient and insurer in dismayingly different ways. Furthermore, those allocations fluctuate depending on each policy’s annual cycle of deductibles and out-of-pocket limits, which in turn depend on each patient’s renewal date. Patients are better situated than doctors to know the particulars of their own plans, but most people find their insurance baffling. Advances in information systems someday will prune this thicket, but today insurance coverage must often be added to the list of concerns about which doctors need better information.
Share your knowledge of treatment costs. If patients who pay out of pocket really are to make wise economic and medical choices, they need to know what tests and treatments cost.20 This information, too, may be elusive. For instance, physicians often are unfamiliar with, or mistaken about, the plethora of drug prices. One literature review reports, “With…the median [physician’s] estimate 243% away from the true cost, many of the estimates appear to be wild guesses.”21 And hospital charge masters are impossible to master. They can list more than 40,000 items whose prices are negotiated by insurance companies in a tumultuous market that regards prices as trade secrets.22
Precision may be unachievable, but there is room at least for a better understanding of large-magnitude cost differences. For instance, physicians we interviewed said that their computers or handheld devices provide basic information about the costs of prescription drugs, and some states and leading insurers are starting to post comparative provider and procedure prices online.23 Without these aids, doctors still appear very able and practiced in discussing the costs of different options in general qualitative terms, even if they lack exact price information.
How to factor cost into your discussions of treatment
The law of malpractice enforces the medical profession’s minimum standards for treatments, and the culture of medicine expects doctors to provide the best care available—to apply the gold standard of treatment. Patients (and perhaps juries) share that preference. But CDHC gives patients reasons to seek something less than the gold standard.
So once approximate costs are known, how should you factor them into discussions about treatments? When care is needed, do you merely inform the patient of less expensive options but always recommend the optimal one? When might you press a more effective option on a reluctant patient? Once again, these questions raise dilemmas doctors know all too well.24,25 You face them every day when patients assert other reasons to refuse treatment, like discomfort or inconvenience, or when their reticence amounts to little more than caprice. Here are 3 situations to consider:
When some treatment is better than none at all. The easiest situation arises when a more expensive option would be superior in an ideal world, but not in the real world. Sometimes, the best can be the enemy of the good. For example, if a patient who is offered only the medically optimal treatment leans toward forgoing treatment altogether, doctors often recommend a suboptimal but still useful alternative.26 Based on examples we heard, a physician might order a generic medication to control blood pressure when much costlier options are only moderately more effective, or an x-ray rather than a computed tomography scan, or 1 return visit rather than 2.
But what about malpractice liability for suboptimal care? Within reasonable ranges of professional judgment, the liability threat is not serious, since there are 2 legal defenses:27
- If a less expensive treatment, or no treatment at all, is within the broad prevailing standard of care or a recognized alternative school of thought, then doctors may recommend this, even if it is not the course they normally counsel.
- Even substandard options are defensible if reasonably well-informed patients understand their options and reject the doctor’s first recommendation.
When medical consequences of refusing a treatment are not dire. A second situation is also comparatively easy, at least in theory. Where the long-term medical outcomes are not dire and patients experience the health consequences directly, patients can reasonably be left to make suboptimal choices. Examples we were given include physical therapy or pain control. When a patient is considering direct-impact, lower-stakes treatments, a doctor should not feel great ethical or liability qualms in acceding to the patient’s wish to sacrifice health for wealth.
When a patient’s decision and your opinion are at odds. In the third category, physicians’ role as healers conflicts with their role as patients’ agents.28,29 If you suspect that a cost-reluctant patient can afford the gold standard and the patient chooses the pyrite standard, what should—or may—you do? This, too, is a variant of a familiar problem: Even well-informed patients may make bad decisions. To cope, doctors have developed an array of techniques (from soft to firm) that can be applied when decisions seem “penny wise and pound foolish.”30
First, and most coercively, doctors can simply refuse to treat a noncompliant patient. Except in emergencies, this is professionally and legally permissible; however, it is hardly ideal. When patients flatly cannot afford decent care, doctors often help by discounting fees or by arranging financial assistance.31
When patients are simply penurious rather than penniless, doctors can try arguing a patient into a wise choice. This tactic is not necessarily impermissible paternalism; it can be an act of respect and friendship. In our interviews, for instance, 1 doctor told a woman who balked at a mammogram that he was scheduling it anyway. Another called a taxi to drive a patient directly to the hospital out of concern that she might just go home. Yet another doctor enlisted family members in convincing recalcitrant patients. In sum, doctors dance a delicate dance to accommodate patients’ ambivalent wants and ambiguous needs.
Finding a new balance
You can accommodate the theory and policy of CDHC by acceding to a patient’s desire to pay less and get less.32 Professional obligations can be met by recommending the same care to each patient with a given condition, but informing patients of the costs and consequences of alternatives. Properly documented, these economically impartial conversations should protect physicians from malpractice liability. However, you need not go as far as having patients sign “Against Medical Advice” forms in order to continue seeing those who refuse optimal care. Doctors we interviewed thought it would be excessive to do this routinely and would threaten good relationships with their patients.
Unavoidably, solving consumerism’s problems will require conversations between you and your patients that take time—time that is already maddeningly limited. “Current practice guidelines for only 10 chronic illnesses require more time than primary care physicians have available for patient care overall.”33 For preventive care alone, providing all recommended services “to a panel of 2500 patients could require up to 7½ hours a day of physician time.”34
Furthermore, some doctors may feel that expecting patients to pay more out of pocket is an unwise policy. That may be right; even well-intentioned social reforms sometimes make ill-conceived demands of professionals. But rightly or wrongly, our political economy, having resisted managed care (at the urging of doctors and patients), has accepted consumerism as another means to restrain unsustainable spending. In public policy forums, doctors may argue against government or market initiatives, but in clinical forums, there is a professional obligation to cooperate with prevailing social policy—especially when the policy forges the interests that patients bring to the examination room.
Acknowledgments
This work was supported by a Robert Wood Johnson Foundation Investigator Award in Health Policy Research. The views expressed imply no endorsement by that foundation.
CORRESPONDENCE Mark A. Hall, JD, Wake Forest University, Division of Public Health Sciences, Medical Center Blvd., Winston-Salem, NC 27157-1063; hallma@wfu.edu
During a long-overdue routine check-up with a 65-year-old Caucasian patient we’ll call Dan, you discover his blood pressure is 150/90—this, despite the prescription you wrote for him nearly a year ago. When you recommend that he increase the daily dose and suggest he may want to try a newer drug, he tells you he never filled the original prescription. Soon it’s apparent that he and his wife, who has diabetes, hypercholesterolemia, and severe arthritis, have been deciding which medicines to take and how often to schedule visits based on their monthly budget.
This is one of countless common scenarios playing out as a result of consumer-directed health care (CDHC), the latest movement in the constant struggle to control the costs and improve the quality of health care. CDHC uses mechanisms like steeply tiered co-payments, high deductibles coupled with health savings accounts, and reduced coverage (such as the infamous “donut hole” in Medicare Part D) to compel patients to spend their own money, not insurance money. This approach is intended to give patients more “skin in the game” so that they look harder for thriftier options and accept only treatments they really think are worth the money.1,2
CDHC may be wise; it may be foolish. But many patients must use it, and they urgently need their doctors’ help. This asks a lot of you, but the medical profession has a long and honorable tradition of pursuing what is best for patients, not just what is most cost-effective.3 Patients’ modest understanding of health insurance, providers, and medicine rarely equips them to make medically and financially prudent decisions. For sound information and sage guidance, your patients must rely on you, their physician. In other words, under CDHC, patients present not just with medical symptoms and a social history, but also with a financial condition.
So what kinds of practical and ethical problems does this create? Official oracles of medical ethics are virtually silent, yet patients have paid their own costs from time immemorial, and much can be learned from the collective wisdom of doctors’ accumulated experience.4
With this in mind, we interviewed a convenience sample of 7 primary care physicians in North Carolina who treat lower-income patients (3 in family practice, 2 in geriatrics, 1 in internal medicine, and 1 in pediatrics), and we reviewed the relevant professional ethics literature.5-10 From this body of practical and professional knowledge, we synthesized the following principles and strategies.
Talking about money is fraught with difficulty
If you are to help patients in the new consumerist health care world, you need to know to what extent money is an issue for a patient. But both doctors and patients often dislike discussing money.11,12 In 1 study, women were more uncomfortable talking about their income than their abortion.13 Many patients hesitate to broach the topic for fear of offending their doctor, who recommends services and may be selling them.11,14 And many doctors fear that mentioning costs during examination and treatment will alienate patients who take offense at, or misunderstand the motives behind, discussions of money.11,15
Medical anthropologist Howard Stein even suggests there is a “taboo in official American health culture: namely, a prohibition upon allowing the physician to appear concerned with financial matters” because introducing money violates “the sacred by the profane.”16 Nevertheless, the purpose of CDHC is precisely to place cost in the front of patients’ minds. So patients may be grateful for help in acknowledging the elephant in the room.
Approach finances as forthrightly as you would a potentially embarrassing clinical problem. You can work to help patients feel comfortable discussing costs by treating financial issues in the same matter-of-fact way you address sexual concerns.17 One doctor we interviewed at a low-income clinic said that his patients may be ashamed or embarrassed to acknowledge their financial problems. So he normalizes cost concerns by routinely asking patients if insurance coverage will be an issue—gracefully putting the discussion more in terms of third party rules than the patient’s ability to pay.
Other doctors we interviewed recommend watching for clues patients give when they are concerned about costs, just as doctors attend to patients’ clues about clinical problems.18 Patients may, for example, delay scheduling visits or neglect to fill prescriptions. As a fine doctor said a century ago, “Just remember that people generally care little how you collect your facts. They want to help you to help them, and are ready to accept your methods, especially if tactfully applied.”19
Patients often feel relieved to address cost problems, but finding out exactly what financial obligations a patient faces can be challenging. Different health plans allocate costs between patient and insurer in dismayingly different ways. Furthermore, those allocations fluctuate depending on each policy’s annual cycle of deductibles and out-of-pocket limits, which in turn depend on each patient’s renewal date. Patients are better situated than doctors to know the particulars of their own plans, but most people find their insurance baffling. Advances in information systems someday will prune this thicket, but today insurance coverage must often be added to the list of concerns about which doctors need better information.
Share your knowledge of treatment costs. If patients who pay out of pocket really are to make wise economic and medical choices, they need to know what tests and treatments cost.20 This information, too, may be elusive. For instance, physicians often are unfamiliar with, or mistaken about, the plethora of drug prices. One literature review reports, “With…the median [physician’s] estimate 243% away from the true cost, many of the estimates appear to be wild guesses.”21 And hospital charge masters are impossible to master. They can list more than 40,000 items whose prices are negotiated by insurance companies in a tumultuous market that regards prices as trade secrets.22
Precision may be unachievable, but there is room at least for a better understanding of large-magnitude cost differences. For instance, physicians we interviewed said that their computers or handheld devices provide basic information about the costs of prescription drugs, and some states and leading insurers are starting to post comparative provider and procedure prices online.23 Without these aids, doctors still appear very able and practiced in discussing the costs of different options in general qualitative terms, even if they lack exact price information.
How to factor cost into your discussions of treatment
The law of malpractice enforces the medical profession’s minimum standards for treatments, and the culture of medicine expects doctors to provide the best care available—to apply the gold standard of treatment. Patients (and perhaps juries) share that preference. But CDHC gives patients reasons to seek something less than the gold standard.
So once approximate costs are known, how should you factor them into discussions about treatments? When care is needed, do you merely inform the patient of less expensive options but always recommend the optimal one? When might you press a more effective option on a reluctant patient? Once again, these questions raise dilemmas doctors know all too well.24,25 You face them every day when patients assert other reasons to refuse treatment, like discomfort or inconvenience, or when their reticence amounts to little more than caprice. Here are 3 situations to consider:
When some treatment is better than none at all. The easiest situation arises when a more expensive option would be superior in an ideal world, but not in the real world. Sometimes, the best can be the enemy of the good. For example, if a patient who is offered only the medically optimal treatment leans toward forgoing treatment altogether, doctors often recommend a suboptimal but still useful alternative.26 Based on examples we heard, a physician might order a generic medication to control blood pressure when much costlier options are only moderately more effective, or an x-ray rather than a computed tomography scan, or 1 return visit rather than 2.
But what about malpractice liability for suboptimal care? Within reasonable ranges of professional judgment, the liability threat is not serious, since there are 2 legal defenses:27
- If a less expensive treatment, or no treatment at all, is within the broad prevailing standard of care or a recognized alternative school of thought, then doctors may recommend this, even if it is not the course they normally counsel.
- Even substandard options are defensible if reasonably well-informed patients understand their options and reject the doctor’s first recommendation.
When medical consequences of refusing a treatment are not dire. A second situation is also comparatively easy, at least in theory. Where the long-term medical outcomes are not dire and patients experience the health consequences directly, patients can reasonably be left to make suboptimal choices. Examples we were given include physical therapy or pain control. When a patient is considering direct-impact, lower-stakes treatments, a doctor should not feel great ethical or liability qualms in acceding to the patient’s wish to sacrifice health for wealth.
When a patient’s decision and your opinion are at odds. In the third category, physicians’ role as healers conflicts with their role as patients’ agents.28,29 If you suspect that a cost-reluctant patient can afford the gold standard and the patient chooses the pyrite standard, what should—or may—you do? This, too, is a variant of a familiar problem: Even well-informed patients may make bad decisions. To cope, doctors have developed an array of techniques (from soft to firm) that can be applied when decisions seem “penny wise and pound foolish.”30
First, and most coercively, doctors can simply refuse to treat a noncompliant patient. Except in emergencies, this is professionally and legally permissible; however, it is hardly ideal. When patients flatly cannot afford decent care, doctors often help by discounting fees or by arranging financial assistance.31
When patients are simply penurious rather than penniless, doctors can try arguing a patient into a wise choice. This tactic is not necessarily impermissible paternalism; it can be an act of respect and friendship. In our interviews, for instance, 1 doctor told a woman who balked at a mammogram that he was scheduling it anyway. Another called a taxi to drive a patient directly to the hospital out of concern that she might just go home. Yet another doctor enlisted family members in convincing recalcitrant patients. In sum, doctors dance a delicate dance to accommodate patients’ ambivalent wants and ambiguous needs.
Finding a new balance
You can accommodate the theory and policy of CDHC by acceding to a patient’s desire to pay less and get less.32 Professional obligations can be met by recommending the same care to each patient with a given condition, but informing patients of the costs and consequences of alternatives. Properly documented, these economically impartial conversations should protect physicians from malpractice liability. However, you need not go as far as having patients sign “Against Medical Advice” forms in order to continue seeing those who refuse optimal care. Doctors we interviewed thought it would be excessive to do this routinely and would threaten good relationships with their patients.
Unavoidably, solving consumerism’s problems will require conversations between you and your patients that take time—time that is already maddeningly limited. “Current practice guidelines for only 10 chronic illnesses require more time than primary care physicians have available for patient care overall.”33 For preventive care alone, providing all recommended services “to a panel of 2500 patients could require up to 7½ hours a day of physician time.”34
Furthermore, some doctors may feel that expecting patients to pay more out of pocket is an unwise policy. That may be right; even well-intentioned social reforms sometimes make ill-conceived demands of professionals. But rightly or wrongly, our political economy, having resisted managed care (at the urging of doctors and patients), has accepted consumerism as another means to restrain unsustainable spending. In public policy forums, doctors may argue against government or market initiatives, but in clinical forums, there is a professional obligation to cooperate with prevailing social policy—especially when the policy forges the interests that patients bring to the examination room.
Acknowledgments
This work was supported by a Robert Wood Johnson Foundation Investigator Award in Health Policy Research. The views expressed imply no endorsement by that foundation.
CORRESPONDENCE Mark A. Hall, JD, Wake Forest University, Division of Public Health Sciences, Medical Center Blvd., Winston-Salem, NC 27157-1063; hallma@wfu.edu
1. Robinson JC. Reinvention of health insurance in the consumer era. JAMA. 2004;291:1880-1886.
2. Bloche MG. Consumer-directed health care. N Engl J Med. 2006;355:1756-1759.
3. Shrank WH, Asch SM, Joseph GJ, et al. Physicians’ perceived knowledge of and responsibility for managing patients’ out-of-pocket costs for prescription drugs. Ann Pharmacother. 2006;40:1534-1540.
4. Hall MA, Schneider CE. Learning from the legal history of billing for medical fees. J Gen Intern Med. 2008;23:257-260.
5. Cassel CK. Doctors and allocation decisions: a new role in the new Medicare. J Health Polit Policy Law. 1985;10:549-564.
6. Weiner S. “I can’t afford that!” Dilemmas in the care of the uninsured and underinsured. J Gen Intern Med. 2001;16:412-418.
7. Hurst SA, Hull SC, DuVal G, et al. Physicians’ responses to resource constraints. Arch Intern Med. 2005;165:639-644.
8. Hurst SA, Slowther AM, Forde R, et al. Prevalence and determinants of physician bedside rationing: data from Europe. J Gen Intern Med. 2006;21:1138-1143.
9. Whitney SN, McCullough LB. Physicians’ silent decisions: because patient autonomy does not always come first. Am J Bioeth. 2007;7:33-38.
10. Mort E, Edwards JN, Emmons D, et al. Physician response to patient insurance status in ambulatory care clinical decision-making. Med Care. 1996;34:783-797.
11. Schneider CE, Hall MA. The patient life: can consumers direct health care? Am J Law Med. 2009;35:7-65.
12. Alexander GC, Casalino LP, Meltzer DO. Patient-physician communication about out-of-pocket costs. JAMA. 2003;290:953-958.
13. Becker-Blease KA, Freyd JJ. Research participants telling the truth about their lives: the ethics of asking and not asking about abuse. Am Psychol. 2006;61:218-226.
14. Alexander GC, Casalino LP, Tseng CW, et al. Barriers to patient-physician communication about out-of-pocket costs. J Gen Intern Med. 2004;19:856-860.
15. Federman AD. Don’t ask, don’t tell: the status of doctor-patient communication about healthcare costs. Arch Intern Med. 2004;164:1723-1724.
16. Stein HF. The money taboo in American medicine. Med Anthropol. 1983;7:1-11.
17. Hardee JT, Platt FW, Kasper IK. Discussing health care costs with patients: an opportunity for empathic communication. J Gen Intern Med. 2005;20:666-669.
18. Alexander GC, Tseng CW. Six strategies to identify and assist patients burdened by out-of-pocket prescription costs. Cleve Clin J Med. 2004;71:433-438.
19. Shattuck FC. The science and art of medicine in some of their aspects. Boston Med Surg J. 1907;157:63-67.
20. Wilkes MS, Schriger DL. Caution: the meter is running informing patients about health care costs. West J Med. 1996;165:74-79.
21. Allan GM, Lexchin J, Wiebe N. Physician awareness of drug cost: a systematic review. PLoS Med. 2007;4:1486-1496.
22. Hall MA, Schneider CE. Patients as consumers: courts, contracts, and the new medical marketplace. Mich Law Rev. 2008;106:643-689.
23. Austin DA, Gravelle JG. Does price transparency improve market efficiency? Implications of empirical evidence in other markets for the health sector. Congressional Res Service, April 29, 2008. Available at: www.fas.org/sgp/crs/misc/RL34101.pdf. Accessed October 9, 2009.
24. Meyers DS, Mishori R, McCann J, et al. Primary care physicians’ perceptions of the effect of insurance status on clinical decision making. Ann Fam Med. 2006;4:399-402.
25. Pham HH, Alexander GC, O’Malley AS. Physician consideration of patients’ out-of-pocket costs in making common clinical decisions. Arch Intern Med. 2007;167:663-668.
26. Reichert S, Simon T, Halm EA. Physicians’ attitudes about prescribing and knowledge of the costs of common medications. Arch Intern Med. 2000;160:2799-2803.
27. Hall MA, Schneider CE. Physician liability when patients refuse to pay for recommended care. Conn Law Rev. 2009;4:743-780.
28. Alexander GC, Hall MA, Lantos JD. Rethinking professional ethics in the cost-sharing era. Am J Bioeth. 2006;6:W17-W22.
29. Gafni A, Charles C, Whelan T. The physician-patient encounter: the physician as a perfect agent for the patient versus the informed decision-making model. Soc Sci Med. 1998;47:347-354.
30. Carrese JA. Refusal of care: patients’ well-being and physicians’ ethical obligations: “But doctor, I want to go home.” JAMA. 2006;296:691-695.
31. Hall MA, Schneider CE. The professional ethics of billing and collections. JAMA. 2008;300:1806-1808.
32. Hall MA. Paying for what you get, and getting what you pay for. Law Contemp Probl. 2006;69:159-180.
33. Ostbye T, Yarnall KS, Krause KM, et al. Is there time for management of patients with chronic diseases in primary care? Ann Fam Med. 2005;3:209-214.
34. Goodson JD. Unintended consequences of resource-based relative value scale reimbursement. JAMA. 2007;298:2308-2310.
1. Robinson JC. Reinvention of health insurance in the consumer era. JAMA. 2004;291:1880-1886.
2. Bloche MG. Consumer-directed health care. N Engl J Med. 2006;355:1756-1759.
3. Shrank WH, Asch SM, Joseph GJ, et al. Physicians’ perceived knowledge of and responsibility for managing patients’ out-of-pocket costs for prescription drugs. Ann Pharmacother. 2006;40:1534-1540.
4. Hall MA, Schneider CE. Learning from the legal history of billing for medical fees. J Gen Intern Med. 2008;23:257-260.
5. Cassel CK. Doctors and allocation decisions: a new role in the new Medicare. J Health Polit Policy Law. 1985;10:549-564.
6. Weiner S. “I can’t afford that!” Dilemmas in the care of the uninsured and underinsured. J Gen Intern Med. 2001;16:412-418.
7. Hurst SA, Hull SC, DuVal G, et al. Physicians’ responses to resource constraints. Arch Intern Med. 2005;165:639-644.
8. Hurst SA, Slowther AM, Forde R, et al. Prevalence and determinants of physician bedside rationing: data from Europe. J Gen Intern Med. 2006;21:1138-1143.
9. Whitney SN, McCullough LB. Physicians’ silent decisions: because patient autonomy does not always come first. Am J Bioeth. 2007;7:33-38.
10. Mort E, Edwards JN, Emmons D, et al. Physician response to patient insurance status in ambulatory care clinical decision-making. Med Care. 1996;34:783-797.
11. Schneider CE, Hall MA. The patient life: can consumers direct health care? Am J Law Med. 2009;35:7-65.
12. Alexander GC, Casalino LP, Meltzer DO. Patient-physician communication about out-of-pocket costs. JAMA. 2003;290:953-958.
13. Becker-Blease KA, Freyd JJ. Research participants telling the truth about their lives: the ethics of asking and not asking about abuse. Am Psychol. 2006;61:218-226.
14. Alexander GC, Casalino LP, Tseng CW, et al. Barriers to patient-physician communication about out-of-pocket costs. J Gen Intern Med. 2004;19:856-860.
15. Federman AD. Don’t ask, don’t tell: the status of doctor-patient communication about healthcare costs. Arch Intern Med. 2004;164:1723-1724.
16. Stein HF. The money taboo in American medicine. Med Anthropol. 1983;7:1-11.
17. Hardee JT, Platt FW, Kasper IK. Discussing health care costs with patients: an opportunity for empathic communication. J Gen Intern Med. 2005;20:666-669.
18. Alexander GC, Tseng CW. Six strategies to identify and assist patients burdened by out-of-pocket prescription costs. Cleve Clin J Med. 2004;71:433-438.
19. Shattuck FC. The science and art of medicine in some of their aspects. Boston Med Surg J. 1907;157:63-67.
20. Wilkes MS, Schriger DL. Caution: the meter is running informing patients about health care costs. West J Med. 1996;165:74-79.
21. Allan GM, Lexchin J, Wiebe N. Physician awareness of drug cost: a systematic review. PLoS Med. 2007;4:1486-1496.
22. Hall MA, Schneider CE. Patients as consumers: courts, contracts, and the new medical marketplace. Mich Law Rev. 2008;106:643-689.
23. Austin DA, Gravelle JG. Does price transparency improve market efficiency? Implications of empirical evidence in other markets for the health sector. Congressional Res Service, April 29, 2008. Available at: www.fas.org/sgp/crs/misc/RL34101.pdf. Accessed October 9, 2009.
24. Meyers DS, Mishori R, McCann J, et al. Primary care physicians’ perceptions of the effect of insurance status on clinical decision making. Ann Fam Med. 2006;4:399-402.
25. Pham HH, Alexander GC, O’Malley AS. Physician consideration of patients’ out-of-pocket costs in making common clinical decisions. Arch Intern Med. 2007;167:663-668.
26. Reichert S, Simon T, Halm EA. Physicians’ attitudes about prescribing and knowledge of the costs of common medications. Arch Intern Med. 2000;160:2799-2803.
27. Hall MA, Schneider CE. Physician liability when patients refuse to pay for recommended care. Conn Law Rev. 2009;4:743-780.
28. Alexander GC, Hall MA, Lantos JD. Rethinking professional ethics in the cost-sharing era. Am J Bioeth. 2006;6:W17-W22.
29. Gafni A, Charles C, Whelan T. The physician-patient encounter: the physician as a perfect agent for the patient versus the informed decision-making model. Soc Sci Med. 1998;47:347-354.
30. Carrese JA. Refusal of care: patients’ well-being and physicians’ ethical obligations: “But doctor, I want to go home.” JAMA. 2006;296:691-695.
31. Hall MA, Schneider CE. The professional ethics of billing and collections. JAMA. 2008;300:1806-1808.
32. Hall MA. Paying for what you get, and getting what you pay for. Law Contemp Probl. 2006;69:159-180.
33. Ostbye T, Yarnall KS, Krause KM, et al. Is there time for management of patients with chronic diseases in primary care? Ann Fam Med. 2005;3:209-214.
34. Goodson JD. Unintended consequences of resource-based relative value scale reimbursement. JAMA. 2007;298:2308-2310.
Genetic screening for iron overload: No evidence of discrimination at 1 year
Purpose This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload.
Methods 101,168 primary care patients from the US and Canada were screened for iron phenotypes and HFE genotypes associated with hemochromatosis. Those identified to be at risk (2253) were offered a clinical examination, which 1677 (74%) accepted, and the 1154 of these who responded to an initial questionnaire about psychosocial issues were surveyed 1 year later about whether they had experienced problems with insurance or employment that they attributed to hereditary hemochromatosis and iron overload.
Results 832 (72.1%) of the 1154 participants surveyed after 1 year responded to the second survey. Three (0.4%) had verified problems with insurance or employment that they believed were related to hereditary hemochromatosis and iron overload. Two had problems with life insurance, and one with long-term care insurance. All 3 had elevated iron levels but not a relevant HFE genotype. One of the life insurance problems was resolved; the second one was not serious. The participant who was denied long-term care insurance had other health conditions unrelated to hereditary hemochromatosis and iron overload that could have contributed to the denial. No problems were verified for health insurance or employment, or from any of the comparison group participants (controls and those with inconclusive screening results).
Conclusions The risk of insurance or employment problems 1 year after phenotype and genotype screening for hereditary hemochromatosis and iron overload is very low.
Social risks from genetic testing are a major public policy concern in medical genetics and genetics research.1-3 These concerns are focused mainly on health insurance, as insurers have an incentive to avoid those clients it will be costly for them to insure. This concern also applies to employers, who pay for most private health care in the US.
Since the beginnings of the Human Genome Project in 1990, legislation has been proposed to head off possible genetic discrimination. The Health Insurance Portability and Accountability Act of 1996 (HIPAA) prohibited most insurers from considering genetic risks as preexisting conditions. Since the 1990s, all but 2 states have passed laws that limit genetic discrimination in health insurance; 34 states ban or limit genetic discrimination by employers.4 In addition, a piece of federal legislation is pending. The Genetic Information Nondiscrimination Act, intended to prohibit health insurance and employment discrimination on the basis of genetic information, passed the House in April 2007 but, at press time, had not been voted on by the Senate.
Because state laws usually do not apply to life or disability insurance, and their applicability to employment is inconsistent, the potential for discrimination problems is still of concern to patients with costly conditions that may be uncovered by genetic screening.
Hereditary hemochromatosis—early detection is key
Members of the health care community have expressed concern that genetic discrimination will hamper efforts to detect and mitigate hereditary hemochromatosis, a relatively common condition marked by iron overload, which can lead to irreversible organ damage and related health problems.5-9 Hereditary hemochromatosis is an autosomal recessive condition that typically is associated with 2 copies of the C282Y mutation in the HFE gene on chromosome 6, although the H63D HFE mutation is also associated with hereditary hemochromatosis in some cases.10,11 If detected early, health problems from iron overload can be prevented by periodic phlebotomy. Not surprisingly, then, there is public health interest in the screening and detection of hemochromatosis or iron overload before symptoms arise.9,12-14
There are documented instances, however, of healthy people who experienced discrimination in insurance or employment based on having a phenotype or genotype associated with hereditary hemochromatosis.8,15,16 Alper and colleagues noted that “[i]n a general screening program of 100 million people…even if only 5% of these people [who screen positive for hereditary hemochromatosis] encounter discrimination, this amounts to approximately 28,000 people.”8 Alper’s speculation has not been tested because no large-scale studies of discrimination resulting from screening the general population have been conducted.
This study looks to identify possible social risks from genetic screening by surveying a large and diverse racial/ethnic primary care population participating in a study of iron overload and hereditary hemochromatosis in the US and Canada. We have sought to determine the number and types of problems associated with insurance and employment 1 year after screening and clinical examination for relevant hereditary hemochromatosis phenotypes and genotypes.
Methods
The data for this analysis come from the Hemochromatosis and Iron Overload Screening (HEIRS) Study. A full description of the study’s rationale, design, and methods has been published elsewhere.17
Identifying the subjects
The research team screened a multiracial/ethnic sample of 101,168 primary care patients, 25 years of age and older, over a 2-year period beginning in March 2001. We recruited participants in approximately equal numbers at 5 field centers, 4 in the US and 1 in Canada. We chose study sites and recruitment goals to produce a sample with about 50% non-Caucasians. A central laboratory assayed blood samples for transferrin saturation, serum ferritin, and HFE C282Y and H63D mutations. A comprehensive clinical evaluation was offered to all C282Y homozygotes and to all non-C282Y homozygotes who met study thresholds for elevated transferrin saturation and serum ferritin iron measures.17
We identified a total of 2253 such participants. Of these, 1677 (74%) participated in the clinical exam, which assessed body iron stores and attempted to distinguish between primary and secondary causes of iron overload. Clinical exam results were provided to the participants—and, if they consented, to their primary care providers. We then mailed an extended survey to all 1677 participants assessing various psychological and behavioral issues related to genetic screening and testing; 1154 responded (68.8%).
Follow-up 1 year later
One year after the clinical exam, we resurveyed these 1154 respondents and asked additional questions about any problems with employment or insurance (health, life, or disability) in the past year “related to hemochromatosis or iron overload.” Participants who had problems were contacted by telephone for follow-up questions about the nature and circumstances of the problem.
For comparison with clinical exam participants, we surveyed a stratified random sample of 939 screening participants in a similar fashion 1 year following screening. These participants were not eligible for a clinical exam but they had inconclusive screening results, indicating possible elevated risk of hereditary hemochromatosis/iron overload, such as HFE genotypes other than C282Y homozygosity, or lesser elevations of transferrin saturation or serum ferritin.18 Also surveyed at 1 year were 803 controls (469 of whom had a clinical exam and 334 who did not), who were randomly selected following the age distribution of the other participants. All controls had no known HFE genotypes associated with iron overload and had transferrin saturation and serum ferritin values below study-defined thresholds for risk of iron overload.
Results
Overall, 832 clinical exam participants (72.1%) responded among the 1154 who were surveyed 1 year after their exam. Sample characteristics are shown in TABLE 1.
Few discrimination problems were found
Twenty-four (2.8%) reported they had 1 or more problems with employment or insurance that they believed were related to hereditary hemochromatosis/iron overload. Researchers made follow-up phone contact with 17 of these (70.8%), but 7 were lost to follow-up. Only 3 of these 17 participants verified problems that were possibly related to the participation in the HEIRS Study. Among the comparison group respondents (controls and inconclusive screening results), 6 (0.5%) reported a problem with employment or insurance. However, after we made contact with 5 of the 6 respondents, we were unable to verify any of the 5 cases.
All 3 verified reports of problems came from participants who received a clinical exam based on elevated transferrin saturation and serum ferritin levels, rather than based on their HFE genotypes. There were no verified reports from any of the 153 newly identified C282Y homozygotes who responded (out of a total of 252 such participants in the HEIRS Study). Details of the 3 verified problems are shown in TABLE 2.
One person with primary iron overload was denied long-term care insurance. Two people with elevated transferrin saturation and serum ferritin levels of undetermined cause reported having problems with life insurance. One was charged an increased rate, and the second one was initially refused insurance but was later covered after a physician explained that serum iron measures had returned to normal. There were no verified reports of problems with health insurance or employment. (None of the 7 participants who reported problems but who were lost to further follow-up were newly identified C282Y homozygotes, nor did any have C282Y or H63D HFE mutations.)
TABLE 1
Characteristics of all who responded to follow-up
| CLINICAL EXAM | COMPARISON GROUPS | |
|---|---|---|
| Number of follow-up surveys | 1154 | 1742 |
| Number (%) of respondents | 832 (72.1) | 1130 (64.9) |
| Age: mean (SD) | 56.5 years (13.4) | 53.2 years (13.6) |
| Gender: N (%)* | ||
| Male | 439 (52.8) | 357 (31.7) |
| Female | 393 (47.2) | 768 (68.3) |
| Race: N (%) | ||
| White | 461 (55.4) | 788 (69.7) |
| Other | 371 (44.6) | 342 (30.3) |
| Language: N (%)* | ||
| English | 728 (87.5) | 1027 (91.4) |
| Other | 104 (12.5) | 97 (8.6) |
| Insurance coverage: N (%)* | ||
| Disability insurance | 240 (31.1) | 391 (37.1) |
| Life insurance | 494 (62.2) | 736 (67.8) |
| Health insurance | 678 (83.4) | 980 (88.7) |
| Employed: N (%)* | 394 (55.7) | 646 (65.5) |
| * Not all survey respondents answered these questions. Percent is based on those who answered. | ||
Discussion
Legal definitions and jurisdictions: Their role in discrimination
In the present study, all 3 participants who reported problems received a clinical examination based on elevated blood iron measures (transferrin saturation and serum ferritin). We verified no problems among participants with any C282Y or H63D HFE genotypes (including both homozygotes or heterozygotes). Therefore, under prevailing definitions, the reported problems do not appear to constitute “genetic discrimination.”15 Furthermore, we received no verified reports of problems with employment or health insurance, for which legal protections are much stronger than for other types of potential discrimination.19
Of note, though: None of our study jurisdictions had legal protections against genetic discrimination by life insurers or long-term-care insurers, and these are the 2 areas where our participants encountered problems. This suggests that existing legal protections may be somewhat effective, although it is also consistent with the argument that such protections address potential problems that are rare or nonexistent.1
Examining the individual case reports (TABLE 2), insurance was denied outright in just one case, involving long-term care insurance, and that participant had health problems unrelated to iron overload that could have contributed to the denial. In the 2 life insurance cases, one person was insured with the help of a physician’s letter, and the other person obtained insurance with an increased premium.
TABLE 2
Characteristics of the 3 participants reporting insurance problems
| Race | Caucasian, Asian, Pacific Islander (one each) | ||
| Gender | Two males and one female | ||
| PARTICIPANT 1 | PARTICIPANT 2 | PARTICIPANT 3 | |
| Age | over 64 | 45–64 | 45–64 |
| Genotype | normal (wild-type) HFE | normal (wild-type) HFE | normal (wild-type) HFE |
| Phenotype | Elevated transferrin saturation (51%) and serum ferritin (917 mcg/L) | Elevated transferrin saturation (53%) serum ferritin (740 mcg/L) | Elevated transferrin saturation (76%) and serum ferritin (2871 mcg/L) |
| Other health problems | Obese; spherocytosis; reported history of arrhythmia | Reported history of thalassemia trait | Reports 5 alcohol servings per day; evidence of liver abnormality |
| Study classification | Primary iron overload | Cause of iron overload indeterminate | Cause of iron overload indeterminate |
| Reported problem | Denied long-term-care insurance by 2 large companies | Obtained life insurance but at an increased rate | Initially denied life insurance, but successfully appealed with a physician’s letter stating no iron overload |
| Notes | Self-rated health status of 2 (“fair”) out of 5 (“excellent”) | Participant believes this was not due to participation in HEIRS Study, but was due to iron elevations that were identified by the study and reconfirmed by independent testing done for the insurance company | Reports that iron level returned to normal after ceasing to drink red wine |
Limitations of this study
Because this study had only a 1-year follow-up period, it provides no basis for determining the long-term prevalence of insurance or employment problems. However, it appears that after 1 year, the extent of these problems is very small. No verified problems were reported by newly identified C282Y homozygotes or by participants with any other C282Y or H63D HFE genotypes.
Our findings contrast with the 20% prevalence of discrimination among hemochromatosis patients reported by Shaheen et al.16 Their study, however, evaluated subjects who had been diagnosed in routine medical care to have hemochromatosis an average of 4.5 years before discrimination evaluation, and who were under treatment for iron overload.
Verification contacts in our study were made with those reporting a problem, which may have resulted in some underreporting among respondents. Also, we did not determine which participants sought or changed insurance during the study period, so we do not know the exposure rate to potential discrimination. Nevertheless, these findings provide some empirical basis for informing clinicians, researchers, patients, and Institution Review Boards that the risk of insurance or employment problems following genetic screening for hemochromatosis appears to be quite small.
Funding/Support
This study is supported by contracts N01-HC05185 (University of Minnesota), N01-HC05186 (Howard University), N01-HC05188 (University of Alabama at Birmingham), N01-HC05189 (Kaiser Permanente Center for Health Research), N01-HC05190 (University of California, Irvine), N01-HC05191 (London Health Sciences Centre), and N01-HC05192 (Wake Forest University).
Additional support was provided by the Howard University General Clinical Research Center (GCRC) grant, M01-RR 10284, and the UCSD/UCI Satellite GCRC grant, M01-RR 00827 (University of California, Irvine), sponsored by the National Center for Research Resources, National Institutes of Health. Additional support was provided by the University of Alabama at Birmingham General Clinical Research Center (GCRC) grant M01-RR 00032, Southern Iron Disorders Center, Howard University GCRC grant M01-RR 10284, Howard University Research Scientist Award UH1-HL03679-05 from the National Heart, Lung, and Blood Institute and the Office of Research on Minority Health; and grant UC Irvine M01 RR 000827 from the General Clinical Research Centers Program of the National Center for Research Resources National Institutes of Health. These funding organizations participated in the study’s design and conduct, and they approved publication of this paper, but they did not directly participate in the collection, management, analysis, or interpretation of the data or the preparation of this manuscript.
All authors had full access to all of the data in the study and they take responsibility for the integrity of the data and the accuracy of the data analysis.
The HEIRS Study investigators are listed at www.heirs-study.org/PP_Policy.htm.
CorrespondenceMark A. Hall, JD, Wake Forest University Medical School, Department of Public Health Sciences, 2000 W. 1st Street, Winston-Salem NC 27157-1063; mhall@wfubmc.edu.
1. Greely HT. Banning genetic discrimination. N Engl J Med 2005;353:865-867.
2. Hudson KL, Rothenberg KH, Andrews LB, Kahn MJ, Collins FS. Genetic discrimination and health insurance: an urgent need for reform. Science 1995;270:391-393.
3. Billings PR, Kohn MA, de Cuevas M, Beckwith J, Alper JS, Natowicz MR. Discrimination as a consequence of genetic testing. Am J Hum Genetics 1992;50:476-482.
4. National Conference of State Legislatures. Genetics laws and legislative activity. Available at: www.ncsl.org/programs/health/genetics/charts.htm. Accessed on September 14, 2007.
5. Cogswell ME, McDonnell SM, Khoury MJ, Franks AL, Burke W, Brittenham G. Iron overload, public health, and genetics: Evaluating the evidence for hemochromatosis screening. Ann Intern Med 1998;129:971-979.
6. Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005;366:314-316.
7. Qaseem A, Aronson M, Fitterman N, et al. Screening for hereditary hemochromatosis: A clinical practice guideline from the American College of Physicians. Ann Intern Med 2005;143:517-521.
8. Alper JS, Geller LN, Barash CI, Billings PR, Laden V, Natowicz MR. Genetic discrimination and screening for hemochromatosis. J Pub Health Pol 1994;15:345-358.
9. Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998;280:172-178.
10. Hanson EH, Imperatore G, Burke W. HFE Gene and Hereditary Hemochromatosis: A HuGE Review. Am J Epidemiol 2001;154:193-206.
11. Adams PC, Walker AP, Acton RT. A primer for predicting risk of disease in HFE-linked hemochromatosis. Genetic Testing 2001;5:311-316.
12. Adams PC. Population screening for hemochromatosis. Gut 2000;46:301-303.
13. Barton JC, Acton RT. Population screening for hemochromatosis: Has the time finally come? Curr Gastroenterol Rep 2000;2:1-9.
14. McDonnell SM, Phatak PD, Felitti V, Hover A, McLaren GD. Screening for hemochromatosis in primary care settings. Ann Intern Med 1998;129:962-970.
15. Barash CI. Genetic discrimination and screening for hemochromatosis: then and now. Genetic Testing 2000;4:213-218.
16. Shaheen NJ, Lawrence LB, Bacon BR, et al. Insurance, employment and psychosocial consequences of a diagnosis of hereditary hemochromatosis in subjects without end organ damage. Am J Gastroenterol 2003;98:1175-1180.
17. McLaren CE, Barton JC, Adams PC, et al. Hemochromatosis and Iron Overload Screening (HEIRS). Study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 2003;325:53-62.
18. Anderson RT, Wenzel L, Walker AP, et al. Impact of hemochromatosis screening in patients with indeterminate results: the hemochromatosis and iron overload screening study. Genet Med 2006;8:681-687.
19. Hellman D. What makes genetic discrimination exceptional? Am J Law Med 2003;29:77-116.
Purpose This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload.
Methods 101,168 primary care patients from the US and Canada were screened for iron phenotypes and HFE genotypes associated with hemochromatosis. Those identified to be at risk (2253) were offered a clinical examination, which 1677 (74%) accepted, and the 1154 of these who responded to an initial questionnaire about psychosocial issues were surveyed 1 year later about whether they had experienced problems with insurance or employment that they attributed to hereditary hemochromatosis and iron overload.
Results 832 (72.1%) of the 1154 participants surveyed after 1 year responded to the second survey. Three (0.4%) had verified problems with insurance or employment that they believed were related to hereditary hemochromatosis and iron overload. Two had problems with life insurance, and one with long-term care insurance. All 3 had elevated iron levels but not a relevant HFE genotype. One of the life insurance problems was resolved; the second one was not serious. The participant who was denied long-term care insurance had other health conditions unrelated to hereditary hemochromatosis and iron overload that could have contributed to the denial. No problems were verified for health insurance or employment, or from any of the comparison group participants (controls and those with inconclusive screening results).
Conclusions The risk of insurance or employment problems 1 year after phenotype and genotype screening for hereditary hemochromatosis and iron overload is very low.
Social risks from genetic testing are a major public policy concern in medical genetics and genetics research.1-3 These concerns are focused mainly on health insurance, as insurers have an incentive to avoid those clients it will be costly for them to insure. This concern also applies to employers, who pay for most private health care in the US.
Since the beginnings of the Human Genome Project in 1990, legislation has been proposed to head off possible genetic discrimination. The Health Insurance Portability and Accountability Act of 1996 (HIPAA) prohibited most insurers from considering genetic risks as preexisting conditions. Since the 1990s, all but 2 states have passed laws that limit genetic discrimination in health insurance; 34 states ban or limit genetic discrimination by employers.4 In addition, a piece of federal legislation is pending. The Genetic Information Nondiscrimination Act, intended to prohibit health insurance and employment discrimination on the basis of genetic information, passed the House in April 2007 but, at press time, had not been voted on by the Senate.
Because state laws usually do not apply to life or disability insurance, and their applicability to employment is inconsistent, the potential for discrimination problems is still of concern to patients with costly conditions that may be uncovered by genetic screening.
Hereditary hemochromatosis—early detection is key
Members of the health care community have expressed concern that genetic discrimination will hamper efforts to detect and mitigate hereditary hemochromatosis, a relatively common condition marked by iron overload, which can lead to irreversible organ damage and related health problems.5-9 Hereditary hemochromatosis is an autosomal recessive condition that typically is associated with 2 copies of the C282Y mutation in the HFE gene on chromosome 6, although the H63D HFE mutation is also associated with hereditary hemochromatosis in some cases.10,11 If detected early, health problems from iron overload can be prevented by periodic phlebotomy. Not surprisingly, then, there is public health interest in the screening and detection of hemochromatosis or iron overload before symptoms arise.9,12-14
There are documented instances, however, of healthy people who experienced discrimination in insurance or employment based on having a phenotype or genotype associated with hereditary hemochromatosis.8,15,16 Alper and colleagues noted that “[i]n a general screening program of 100 million people…even if only 5% of these people [who screen positive for hereditary hemochromatosis] encounter discrimination, this amounts to approximately 28,000 people.”8 Alper’s speculation has not been tested because no large-scale studies of discrimination resulting from screening the general population have been conducted.
This study looks to identify possible social risks from genetic screening by surveying a large and diverse racial/ethnic primary care population participating in a study of iron overload and hereditary hemochromatosis in the US and Canada. We have sought to determine the number and types of problems associated with insurance and employment 1 year after screening and clinical examination for relevant hereditary hemochromatosis phenotypes and genotypes.
Methods
The data for this analysis come from the Hemochromatosis and Iron Overload Screening (HEIRS) Study. A full description of the study’s rationale, design, and methods has been published elsewhere.17
Identifying the subjects
The research team screened a multiracial/ethnic sample of 101,168 primary care patients, 25 years of age and older, over a 2-year period beginning in March 2001. We recruited participants in approximately equal numbers at 5 field centers, 4 in the US and 1 in Canada. We chose study sites and recruitment goals to produce a sample with about 50% non-Caucasians. A central laboratory assayed blood samples for transferrin saturation, serum ferritin, and HFE C282Y and H63D mutations. A comprehensive clinical evaluation was offered to all C282Y homozygotes and to all non-C282Y homozygotes who met study thresholds for elevated transferrin saturation and serum ferritin iron measures.17
We identified a total of 2253 such participants. Of these, 1677 (74%) participated in the clinical exam, which assessed body iron stores and attempted to distinguish between primary and secondary causes of iron overload. Clinical exam results were provided to the participants—and, if they consented, to their primary care providers. We then mailed an extended survey to all 1677 participants assessing various psychological and behavioral issues related to genetic screening and testing; 1154 responded (68.8%).
Follow-up 1 year later
One year after the clinical exam, we resurveyed these 1154 respondents and asked additional questions about any problems with employment or insurance (health, life, or disability) in the past year “related to hemochromatosis or iron overload.” Participants who had problems were contacted by telephone for follow-up questions about the nature and circumstances of the problem.
For comparison with clinical exam participants, we surveyed a stratified random sample of 939 screening participants in a similar fashion 1 year following screening. These participants were not eligible for a clinical exam but they had inconclusive screening results, indicating possible elevated risk of hereditary hemochromatosis/iron overload, such as HFE genotypes other than C282Y homozygosity, or lesser elevations of transferrin saturation or serum ferritin.18 Also surveyed at 1 year were 803 controls (469 of whom had a clinical exam and 334 who did not), who were randomly selected following the age distribution of the other participants. All controls had no known HFE genotypes associated with iron overload and had transferrin saturation and serum ferritin values below study-defined thresholds for risk of iron overload.
Results
Overall, 832 clinical exam participants (72.1%) responded among the 1154 who were surveyed 1 year after their exam. Sample characteristics are shown in TABLE 1.
Few discrimination problems were found
Twenty-four (2.8%) reported they had 1 or more problems with employment or insurance that they believed were related to hereditary hemochromatosis/iron overload. Researchers made follow-up phone contact with 17 of these (70.8%), but 7 were lost to follow-up. Only 3 of these 17 participants verified problems that were possibly related to the participation in the HEIRS Study. Among the comparison group respondents (controls and inconclusive screening results), 6 (0.5%) reported a problem with employment or insurance. However, after we made contact with 5 of the 6 respondents, we were unable to verify any of the 5 cases.
All 3 verified reports of problems came from participants who received a clinical exam based on elevated transferrin saturation and serum ferritin levels, rather than based on their HFE genotypes. There were no verified reports from any of the 153 newly identified C282Y homozygotes who responded (out of a total of 252 such participants in the HEIRS Study). Details of the 3 verified problems are shown in TABLE 2.
One person with primary iron overload was denied long-term care insurance. Two people with elevated transferrin saturation and serum ferritin levels of undetermined cause reported having problems with life insurance. One was charged an increased rate, and the second one was initially refused insurance but was later covered after a physician explained that serum iron measures had returned to normal. There were no verified reports of problems with health insurance or employment. (None of the 7 participants who reported problems but who were lost to further follow-up were newly identified C282Y homozygotes, nor did any have C282Y or H63D HFE mutations.)
TABLE 1
Characteristics of all who responded to follow-up
| CLINICAL EXAM | COMPARISON GROUPS | |
|---|---|---|
| Number of follow-up surveys | 1154 | 1742 |
| Number (%) of respondents | 832 (72.1) | 1130 (64.9) |
| Age: mean (SD) | 56.5 years (13.4) | 53.2 years (13.6) |
| Gender: N (%)* | ||
| Male | 439 (52.8) | 357 (31.7) |
| Female | 393 (47.2) | 768 (68.3) |
| Race: N (%) | ||
| White | 461 (55.4) | 788 (69.7) |
| Other | 371 (44.6) | 342 (30.3) |
| Language: N (%)* | ||
| English | 728 (87.5) | 1027 (91.4) |
| Other | 104 (12.5) | 97 (8.6) |
| Insurance coverage: N (%)* | ||
| Disability insurance | 240 (31.1) | 391 (37.1) |
| Life insurance | 494 (62.2) | 736 (67.8) |
| Health insurance | 678 (83.4) | 980 (88.7) |
| Employed: N (%)* | 394 (55.7) | 646 (65.5) |
| * Not all survey respondents answered these questions. Percent is based on those who answered. | ||
Discussion
Legal definitions and jurisdictions: Their role in discrimination
In the present study, all 3 participants who reported problems received a clinical examination based on elevated blood iron measures (transferrin saturation and serum ferritin). We verified no problems among participants with any C282Y or H63D HFE genotypes (including both homozygotes or heterozygotes). Therefore, under prevailing definitions, the reported problems do not appear to constitute “genetic discrimination.”15 Furthermore, we received no verified reports of problems with employment or health insurance, for which legal protections are much stronger than for other types of potential discrimination.19
Of note, though: None of our study jurisdictions had legal protections against genetic discrimination by life insurers or long-term-care insurers, and these are the 2 areas where our participants encountered problems. This suggests that existing legal protections may be somewhat effective, although it is also consistent with the argument that such protections address potential problems that are rare or nonexistent.1
Examining the individual case reports (TABLE 2), insurance was denied outright in just one case, involving long-term care insurance, and that participant had health problems unrelated to iron overload that could have contributed to the denial. In the 2 life insurance cases, one person was insured with the help of a physician’s letter, and the other person obtained insurance with an increased premium.
TABLE 2
Characteristics of the 3 participants reporting insurance problems
| Race | Caucasian, Asian, Pacific Islander (one each) | ||
| Gender | Two males and one female | ||
| PARTICIPANT 1 | PARTICIPANT 2 | PARTICIPANT 3 | |
| Age | over 64 | 45–64 | 45–64 |
| Genotype | normal (wild-type) HFE | normal (wild-type) HFE | normal (wild-type) HFE |
| Phenotype | Elevated transferrin saturation (51%) and serum ferritin (917 mcg/L) | Elevated transferrin saturation (53%) serum ferritin (740 mcg/L) | Elevated transferrin saturation (76%) and serum ferritin (2871 mcg/L) |
| Other health problems | Obese; spherocytosis; reported history of arrhythmia | Reported history of thalassemia trait | Reports 5 alcohol servings per day; evidence of liver abnormality |
| Study classification | Primary iron overload | Cause of iron overload indeterminate | Cause of iron overload indeterminate |
| Reported problem | Denied long-term-care insurance by 2 large companies | Obtained life insurance but at an increased rate | Initially denied life insurance, but successfully appealed with a physician’s letter stating no iron overload |
| Notes | Self-rated health status of 2 (“fair”) out of 5 (“excellent”) | Participant believes this was not due to participation in HEIRS Study, but was due to iron elevations that were identified by the study and reconfirmed by independent testing done for the insurance company | Reports that iron level returned to normal after ceasing to drink red wine |
Limitations of this study
Because this study had only a 1-year follow-up period, it provides no basis for determining the long-term prevalence of insurance or employment problems. However, it appears that after 1 year, the extent of these problems is very small. No verified problems were reported by newly identified C282Y homozygotes or by participants with any other C282Y or H63D HFE genotypes.
Our findings contrast with the 20% prevalence of discrimination among hemochromatosis patients reported by Shaheen et al.16 Their study, however, evaluated subjects who had been diagnosed in routine medical care to have hemochromatosis an average of 4.5 years before discrimination evaluation, and who were under treatment for iron overload.
Verification contacts in our study were made with those reporting a problem, which may have resulted in some underreporting among respondents. Also, we did not determine which participants sought or changed insurance during the study period, so we do not know the exposure rate to potential discrimination. Nevertheless, these findings provide some empirical basis for informing clinicians, researchers, patients, and Institution Review Boards that the risk of insurance or employment problems following genetic screening for hemochromatosis appears to be quite small.
Funding/Support
This study is supported by contracts N01-HC05185 (University of Minnesota), N01-HC05186 (Howard University), N01-HC05188 (University of Alabama at Birmingham), N01-HC05189 (Kaiser Permanente Center for Health Research), N01-HC05190 (University of California, Irvine), N01-HC05191 (London Health Sciences Centre), and N01-HC05192 (Wake Forest University).
Additional support was provided by the Howard University General Clinical Research Center (GCRC) grant, M01-RR 10284, and the UCSD/UCI Satellite GCRC grant, M01-RR 00827 (University of California, Irvine), sponsored by the National Center for Research Resources, National Institutes of Health. Additional support was provided by the University of Alabama at Birmingham General Clinical Research Center (GCRC) grant M01-RR 00032, Southern Iron Disorders Center, Howard University GCRC grant M01-RR 10284, Howard University Research Scientist Award UH1-HL03679-05 from the National Heart, Lung, and Blood Institute and the Office of Research on Minority Health; and grant UC Irvine M01 RR 000827 from the General Clinical Research Centers Program of the National Center for Research Resources National Institutes of Health. These funding organizations participated in the study’s design and conduct, and they approved publication of this paper, but they did not directly participate in the collection, management, analysis, or interpretation of the data or the preparation of this manuscript.
All authors had full access to all of the data in the study and they take responsibility for the integrity of the data and the accuracy of the data analysis.
The HEIRS Study investigators are listed at www.heirs-study.org/PP_Policy.htm.
CorrespondenceMark A. Hall, JD, Wake Forest University Medical School, Department of Public Health Sciences, 2000 W. 1st Street, Winston-Salem NC 27157-1063; mhall@wfubmc.edu.
Purpose This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload.
Methods 101,168 primary care patients from the US and Canada were screened for iron phenotypes and HFE genotypes associated with hemochromatosis. Those identified to be at risk (2253) were offered a clinical examination, which 1677 (74%) accepted, and the 1154 of these who responded to an initial questionnaire about psychosocial issues were surveyed 1 year later about whether they had experienced problems with insurance or employment that they attributed to hereditary hemochromatosis and iron overload.
Results 832 (72.1%) of the 1154 participants surveyed after 1 year responded to the second survey. Three (0.4%) had verified problems with insurance or employment that they believed were related to hereditary hemochromatosis and iron overload. Two had problems with life insurance, and one with long-term care insurance. All 3 had elevated iron levels but not a relevant HFE genotype. One of the life insurance problems was resolved; the second one was not serious. The participant who was denied long-term care insurance had other health conditions unrelated to hereditary hemochromatosis and iron overload that could have contributed to the denial. No problems were verified for health insurance or employment, or from any of the comparison group participants (controls and those with inconclusive screening results).
Conclusions The risk of insurance or employment problems 1 year after phenotype and genotype screening for hereditary hemochromatosis and iron overload is very low.
Social risks from genetic testing are a major public policy concern in medical genetics and genetics research.1-3 These concerns are focused mainly on health insurance, as insurers have an incentive to avoid those clients it will be costly for them to insure. This concern also applies to employers, who pay for most private health care in the US.
Since the beginnings of the Human Genome Project in 1990, legislation has been proposed to head off possible genetic discrimination. The Health Insurance Portability and Accountability Act of 1996 (HIPAA) prohibited most insurers from considering genetic risks as preexisting conditions. Since the 1990s, all but 2 states have passed laws that limit genetic discrimination in health insurance; 34 states ban or limit genetic discrimination by employers.4 In addition, a piece of federal legislation is pending. The Genetic Information Nondiscrimination Act, intended to prohibit health insurance and employment discrimination on the basis of genetic information, passed the House in April 2007 but, at press time, had not been voted on by the Senate.
Because state laws usually do not apply to life or disability insurance, and their applicability to employment is inconsistent, the potential for discrimination problems is still of concern to patients with costly conditions that may be uncovered by genetic screening.
Hereditary hemochromatosis—early detection is key
Members of the health care community have expressed concern that genetic discrimination will hamper efforts to detect and mitigate hereditary hemochromatosis, a relatively common condition marked by iron overload, which can lead to irreversible organ damage and related health problems.5-9 Hereditary hemochromatosis is an autosomal recessive condition that typically is associated with 2 copies of the C282Y mutation in the HFE gene on chromosome 6, although the H63D HFE mutation is also associated with hereditary hemochromatosis in some cases.10,11 If detected early, health problems from iron overload can be prevented by periodic phlebotomy. Not surprisingly, then, there is public health interest in the screening and detection of hemochromatosis or iron overload before symptoms arise.9,12-14
There are documented instances, however, of healthy people who experienced discrimination in insurance or employment based on having a phenotype or genotype associated with hereditary hemochromatosis.8,15,16 Alper and colleagues noted that “[i]n a general screening program of 100 million people…even if only 5% of these people [who screen positive for hereditary hemochromatosis] encounter discrimination, this amounts to approximately 28,000 people.”8 Alper’s speculation has not been tested because no large-scale studies of discrimination resulting from screening the general population have been conducted.
This study looks to identify possible social risks from genetic screening by surveying a large and diverse racial/ethnic primary care population participating in a study of iron overload and hereditary hemochromatosis in the US and Canada. We have sought to determine the number and types of problems associated with insurance and employment 1 year after screening and clinical examination for relevant hereditary hemochromatosis phenotypes and genotypes.
Methods
The data for this analysis come from the Hemochromatosis and Iron Overload Screening (HEIRS) Study. A full description of the study’s rationale, design, and methods has been published elsewhere.17
Identifying the subjects
The research team screened a multiracial/ethnic sample of 101,168 primary care patients, 25 years of age and older, over a 2-year period beginning in March 2001. We recruited participants in approximately equal numbers at 5 field centers, 4 in the US and 1 in Canada. We chose study sites and recruitment goals to produce a sample with about 50% non-Caucasians. A central laboratory assayed blood samples for transferrin saturation, serum ferritin, and HFE C282Y and H63D mutations. A comprehensive clinical evaluation was offered to all C282Y homozygotes and to all non-C282Y homozygotes who met study thresholds for elevated transferrin saturation and serum ferritin iron measures.17
We identified a total of 2253 such participants. Of these, 1677 (74%) participated in the clinical exam, which assessed body iron stores and attempted to distinguish between primary and secondary causes of iron overload. Clinical exam results were provided to the participants—and, if they consented, to their primary care providers. We then mailed an extended survey to all 1677 participants assessing various psychological and behavioral issues related to genetic screening and testing; 1154 responded (68.8%).
Follow-up 1 year later
One year after the clinical exam, we resurveyed these 1154 respondents and asked additional questions about any problems with employment or insurance (health, life, or disability) in the past year “related to hemochromatosis or iron overload.” Participants who had problems were contacted by telephone for follow-up questions about the nature and circumstances of the problem.
For comparison with clinical exam participants, we surveyed a stratified random sample of 939 screening participants in a similar fashion 1 year following screening. These participants were not eligible for a clinical exam but they had inconclusive screening results, indicating possible elevated risk of hereditary hemochromatosis/iron overload, such as HFE genotypes other than C282Y homozygosity, or lesser elevations of transferrin saturation or serum ferritin.18 Also surveyed at 1 year were 803 controls (469 of whom had a clinical exam and 334 who did not), who were randomly selected following the age distribution of the other participants. All controls had no known HFE genotypes associated with iron overload and had transferrin saturation and serum ferritin values below study-defined thresholds for risk of iron overload.
Results
Overall, 832 clinical exam participants (72.1%) responded among the 1154 who were surveyed 1 year after their exam. Sample characteristics are shown in TABLE 1.
Few discrimination problems were found
Twenty-four (2.8%) reported they had 1 or more problems with employment or insurance that they believed were related to hereditary hemochromatosis/iron overload. Researchers made follow-up phone contact with 17 of these (70.8%), but 7 were lost to follow-up. Only 3 of these 17 participants verified problems that were possibly related to the participation in the HEIRS Study. Among the comparison group respondents (controls and inconclusive screening results), 6 (0.5%) reported a problem with employment or insurance. However, after we made contact with 5 of the 6 respondents, we were unable to verify any of the 5 cases.
All 3 verified reports of problems came from participants who received a clinical exam based on elevated transferrin saturation and serum ferritin levels, rather than based on their HFE genotypes. There were no verified reports from any of the 153 newly identified C282Y homozygotes who responded (out of a total of 252 such participants in the HEIRS Study). Details of the 3 verified problems are shown in TABLE 2.
One person with primary iron overload was denied long-term care insurance. Two people with elevated transferrin saturation and serum ferritin levels of undetermined cause reported having problems with life insurance. One was charged an increased rate, and the second one was initially refused insurance but was later covered after a physician explained that serum iron measures had returned to normal. There were no verified reports of problems with health insurance or employment. (None of the 7 participants who reported problems but who were lost to further follow-up were newly identified C282Y homozygotes, nor did any have C282Y or H63D HFE mutations.)
TABLE 1
Characteristics of all who responded to follow-up
| CLINICAL EXAM | COMPARISON GROUPS | |
|---|---|---|
| Number of follow-up surveys | 1154 | 1742 |
| Number (%) of respondents | 832 (72.1) | 1130 (64.9) |
| Age: mean (SD) | 56.5 years (13.4) | 53.2 years (13.6) |
| Gender: N (%)* | ||
| Male | 439 (52.8) | 357 (31.7) |
| Female | 393 (47.2) | 768 (68.3) |
| Race: N (%) | ||
| White | 461 (55.4) | 788 (69.7) |
| Other | 371 (44.6) | 342 (30.3) |
| Language: N (%)* | ||
| English | 728 (87.5) | 1027 (91.4) |
| Other | 104 (12.5) | 97 (8.6) |
| Insurance coverage: N (%)* | ||
| Disability insurance | 240 (31.1) | 391 (37.1) |
| Life insurance | 494 (62.2) | 736 (67.8) |
| Health insurance | 678 (83.4) | 980 (88.7) |
| Employed: N (%)* | 394 (55.7) | 646 (65.5) |
| * Not all survey respondents answered these questions. Percent is based on those who answered. | ||
Discussion
Legal definitions and jurisdictions: Their role in discrimination
In the present study, all 3 participants who reported problems received a clinical examination based on elevated blood iron measures (transferrin saturation and serum ferritin). We verified no problems among participants with any C282Y or H63D HFE genotypes (including both homozygotes or heterozygotes). Therefore, under prevailing definitions, the reported problems do not appear to constitute “genetic discrimination.”15 Furthermore, we received no verified reports of problems with employment or health insurance, for which legal protections are much stronger than for other types of potential discrimination.19
Of note, though: None of our study jurisdictions had legal protections against genetic discrimination by life insurers or long-term-care insurers, and these are the 2 areas where our participants encountered problems. This suggests that existing legal protections may be somewhat effective, although it is also consistent with the argument that such protections address potential problems that are rare or nonexistent.1
Examining the individual case reports (TABLE 2), insurance was denied outright in just one case, involving long-term care insurance, and that participant had health problems unrelated to iron overload that could have contributed to the denial. In the 2 life insurance cases, one person was insured with the help of a physician’s letter, and the other person obtained insurance with an increased premium.
TABLE 2
Characteristics of the 3 participants reporting insurance problems
| Race | Caucasian, Asian, Pacific Islander (one each) | ||
| Gender | Two males and one female | ||
| PARTICIPANT 1 | PARTICIPANT 2 | PARTICIPANT 3 | |
| Age | over 64 | 45–64 | 45–64 |
| Genotype | normal (wild-type) HFE | normal (wild-type) HFE | normal (wild-type) HFE |
| Phenotype | Elevated transferrin saturation (51%) and serum ferritin (917 mcg/L) | Elevated transferrin saturation (53%) serum ferritin (740 mcg/L) | Elevated transferrin saturation (76%) and serum ferritin (2871 mcg/L) |
| Other health problems | Obese; spherocytosis; reported history of arrhythmia | Reported history of thalassemia trait | Reports 5 alcohol servings per day; evidence of liver abnormality |
| Study classification | Primary iron overload | Cause of iron overload indeterminate | Cause of iron overload indeterminate |
| Reported problem | Denied long-term-care insurance by 2 large companies | Obtained life insurance but at an increased rate | Initially denied life insurance, but successfully appealed with a physician’s letter stating no iron overload |
| Notes | Self-rated health status of 2 (“fair”) out of 5 (“excellent”) | Participant believes this was not due to participation in HEIRS Study, but was due to iron elevations that were identified by the study and reconfirmed by independent testing done for the insurance company | Reports that iron level returned to normal after ceasing to drink red wine |
Limitations of this study
Because this study had only a 1-year follow-up period, it provides no basis for determining the long-term prevalence of insurance or employment problems. However, it appears that after 1 year, the extent of these problems is very small. No verified problems were reported by newly identified C282Y homozygotes or by participants with any other C282Y or H63D HFE genotypes.
Our findings contrast with the 20% prevalence of discrimination among hemochromatosis patients reported by Shaheen et al.16 Their study, however, evaluated subjects who had been diagnosed in routine medical care to have hemochromatosis an average of 4.5 years before discrimination evaluation, and who were under treatment for iron overload.
Verification contacts in our study were made with those reporting a problem, which may have resulted in some underreporting among respondents. Also, we did not determine which participants sought or changed insurance during the study period, so we do not know the exposure rate to potential discrimination. Nevertheless, these findings provide some empirical basis for informing clinicians, researchers, patients, and Institution Review Boards that the risk of insurance or employment problems following genetic screening for hemochromatosis appears to be quite small.
Funding/Support
This study is supported by contracts N01-HC05185 (University of Minnesota), N01-HC05186 (Howard University), N01-HC05188 (University of Alabama at Birmingham), N01-HC05189 (Kaiser Permanente Center for Health Research), N01-HC05190 (University of California, Irvine), N01-HC05191 (London Health Sciences Centre), and N01-HC05192 (Wake Forest University).
Additional support was provided by the Howard University General Clinical Research Center (GCRC) grant, M01-RR 10284, and the UCSD/UCI Satellite GCRC grant, M01-RR 00827 (University of California, Irvine), sponsored by the National Center for Research Resources, National Institutes of Health. Additional support was provided by the University of Alabama at Birmingham General Clinical Research Center (GCRC) grant M01-RR 00032, Southern Iron Disorders Center, Howard University GCRC grant M01-RR 10284, Howard University Research Scientist Award UH1-HL03679-05 from the National Heart, Lung, and Blood Institute and the Office of Research on Minority Health; and grant UC Irvine M01 RR 000827 from the General Clinical Research Centers Program of the National Center for Research Resources National Institutes of Health. These funding organizations participated in the study’s design and conduct, and they approved publication of this paper, but they did not directly participate in the collection, management, analysis, or interpretation of the data or the preparation of this manuscript.
All authors had full access to all of the data in the study and they take responsibility for the integrity of the data and the accuracy of the data analysis.
The HEIRS Study investigators are listed at www.heirs-study.org/PP_Policy.htm.
CorrespondenceMark A. Hall, JD, Wake Forest University Medical School, Department of Public Health Sciences, 2000 W. 1st Street, Winston-Salem NC 27157-1063; mhall@wfubmc.edu.
1. Greely HT. Banning genetic discrimination. N Engl J Med 2005;353:865-867.
2. Hudson KL, Rothenberg KH, Andrews LB, Kahn MJ, Collins FS. Genetic discrimination and health insurance: an urgent need for reform. Science 1995;270:391-393.
3. Billings PR, Kohn MA, de Cuevas M, Beckwith J, Alper JS, Natowicz MR. Discrimination as a consequence of genetic testing. Am J Hum Genetics 1992;50:476-482.
4. National Conference of State Legislatures. Genetics laws and legislative activity. Available at: www.ncsl.org/programs/health/genetics/charts.htm. Accessed on September 14, 2007.
5. Cogswell ME, McDonnell SM, Khoury MJ, Franks AL, Burke W, Brittenham G. Iron overload, public health, and genetics: Evaluating the evidence for hemochromatosis screening. Ann Intern Med 1998;129:971-979.
6. Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005;366:314-316.
7. Qaseem A, Aronson M, Fitterman N, et al. Screening for hereditary hemochromatosis: A clinical practice guideline from the American College of Physicians. Ann Intern Med 2005;143:517-521.
8. Alper JS, Geller LN, Barash CI, Billings PR, Laden V, Natowicz MR. Genetic discrimination and screening for hemochromatosis. J Pub Health Pol 1994;15:345-358.
9. Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998;280:172-178.
10. Hanson EH, Imperatore G, Burke W. HFE Gene and Hereditary Hemochromatosis: A HuGE Review. Am J Epidemiol 2001;154:193-206.
11. Adams PC, Walker AP, Acton RT. A primer for predicting risk of disease in HFE-linked hemochromatosis. Genetic Testing 2001;5:311-316.
12. Adams PC. Population screening for hemochromatosis. Gut 2000;46:301-303.
13. Barton JC, Acton RT. Population screening for hemochromatosis: Has the time finally come? Curr Gastroenterol Rep 2000;2:1-9.
14. McDonnell SM, Phatak PD, Felitti V, Hover A, McLaren GD. Screening for hemochromatosis in primary care settings. Ann Intern Med 1998;129:962-970.
15. Barash CI. Genetic discrimination and screening for hemochromatosis: then and now. Genetic Testing 2000;4:213-218.
16. Shaheen NJ, Lawrence LB, Bacon BR, et al. Insurance, employment and psychosocial consequences of a diagnosis of hereditary hemochromatosis in subjects without end organ damage. Am J Gastroenterol 2003;98:1175-1180.
17. McLaren CE, Barton JC, Adams PC, et al. Hemochromatosis and Iron Overload Screening (HEIRS). Study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 2003;325:53-62.
18. Anderson RT, Wenzel L, Walker AP, et al. Impact of hemochromatosis screening in patients with indeterminate results: the hemochromatosis and iron overload screening study. Genet Med 2006;8:681-687.
19. Hellman D. What makes genetic discrimination exceptional? Am J Law Med 2003;29:77-116.
1. Greely HT. Banning genetic discrimination. N Engl J Med 2005;353:865-867.
2. Hudson KL, Rothenberg KH, Andrews LB, Kahn MJ, Collins FS. Genetic discrimination and health insurance: an urgent need for reform. Science 1995;270:391-393.
3. Billings PR, Kohn MA, de Cuevas M, Beckwith J, Alper JS, Natowicz MR. Discrimination as a consequence of genetic testing. Am J Hum Genetics 1992;50:476-482.
4. National Conference of State Legislatures. Genetics laws and legislative activity. Available at: www.ncsl.org/programs/health/genetics/charts.htm. Accessed on September 14, 2007.
5. Cogswell ME, McDonnell SM, Khoury MJ, Franks AL, Burke W, Brittenham G. Iron overload, public health, and genetics: Evaluating the evidence for hemochromatosis screening. Ann Intern Med 1998;129:971-979.
6. Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005;366:314-316.
7. Qaseem A, Aronson M, Fitterman N, et al. Screening for hereditary hemochromatosis: A clinical practice guideline from the American College of Physicians. Ann Intern Med 2005;143:517-521.
8. Alper JS, Geller LN, Barash CI, Billings PR, Laden V, Natowicz MR. Genetic discrimination and screening for hemochromatosis. J Pub Health Pol 1994;15:345-358.
9. Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998;280:172-178.
10. Hanson EH, Imperatore G, Burke W. HFE Gene and Hereditary Hemochromatosis: A HuGE Review. Am J Epidemiol 2001;154:193-206.
11. Adams PC, Walker AP, Acton RT. A primer for predicting risk of disease in HFE-linked hemochromatosis. Genetic Testing 2001;5:311-316.
12. Adams PC. Population screening for hemochromatosis. Gut 2000;46:301-303.
13. Barton JC, Acton RT. Population screening for hemochromatosis: Has the time finally come? Curr Gastroenterol Rep 2000;2:1-9.
14. McDonnell SM, Phatak PD, Felitti V, Hover A, McLaren GD. Screening for hemochromatosis in primary care settings. Ann Intern Med 1998;129:962-970.
15. Barash CI. Genetic discrimination and screening for hemochromatosis: then and now. Genetic Testing 2000;4:213-218.
16. Shaheen NJ, Lawrence LB, Bacon BR, et al. Insurance, employment and psychosocial consequences of a diagnosis of hereditary hemochromatosis in subjects without end organ damage. Am J Gastroenterol 2003;98:1175-1180.
17. McLaren CE, Barton JC, Adams PC, et al. Hemochromatosis and Iron Overload Screening (HEIRS). Study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 2003;325:53-62.
18. Anderson RT, Wenzel L, Walker AP, et al. Impact of hemochromatosis screening in patients with indeterminate results: the hemochromatosis and iron overload screening study. Genet Med 2006;8:681-687.
19. Hellman D. What makes genetic discrimination exceptional? Am J Law Med 2003;29:77-116.