Scientists & Engineers for America

Genetic Discrimination

Introduction

In order for Congress to address the key issue that it faces with respect to genetic discrimination, namely, whether the potential for genetic discrimination by employers and insurers merits protections for genetic information that are more extensive than those already in place for health information in general, there are several fundamental points that it may wish to consider. These include an understanding of what genetic information and discrimination are, how current laws affect employers’ and insurers’ use of genetic and other health information, how proposed legislation would amend current law, and the arguments that have been made both in favor of and against the passage of legislation.

Properly defining genetic information in potential nondiscrimination legislation is essential, as the scope of the definition will largely determine the types of activities that are permitted and proscribed. Yet this basic concept may prove to be complex, as many types of health information have a genetic component. Genetic information may be defined and derived in a number of ways. Of course, it may be obtained via genetic testing. However, it may also be discernable through other laboratory testing that does not involve a specific examination of genes, such as some protein or molecular testing. It may sometimes be derived through physical examination (for example, Down’s syndrome, which has a genetic basis, has specific physical characteristics such as a single crease across each palm). Finally, genetic information may be discernable from a family’s medical history, which might reveal risks for certain types of cancer, hypertension, and a myriad of other diseases with a genetic component.

Once the definition of genetic information is settled, the question of what constitutes discrimination based on that information can be addressed. In the context of the current debate in Congress, genetic discrimination can be defined as the potential use of an individual’s genetic information by employers or health insurers to discriminate against that individual in employment decisions (hiring, promotions, firing) or health insurance coverage decisions (eligibility or premiums). Although the use of health information, including genetic information, by employers and insurers is currently regulated, some argu that genetic information merits special protections under the law.

Three federal laws and a presidential order touch on the issues raised by the use of genetic information: the Americans with Disabilities Act (ADA); Title VII of the Civil Rights Act of 1963; the Health Insurance Portability and Accountability Act (HIPAA); and Executive Order 13145, To Prohibit Discrimination in Federal Employment Based on Genetic Information (65 FR 6877). The ADA protects people from discrimination based on existing disability, history of disability, and perception of disability in employment. The executive order prohibits discrimination against federal employees based on protecte genetic information, or information about a request for or the receipt of genetic services.

In general, the HIPAA statute limits denial of coverage based on pre-existing conditions to 12 months. In the absence of a current diagnosis, the HIPAA statute would not consider predictions of risk of future disease based on genetic information to be a pre-existing condition. In addition, the health information privacy rule, issued in 2000 pursuant to HIPAA’s Administrative Simplification provisions, restricts the disclosure of health information, including genetic information, by group and individual health plans. The HIPAA privacy rule also allows group and individual health plans to use some health information (which could include genetic information) in underwriting. The Civil Rights Act provides some protections against genetic discrimination against members of a protected group, such as persons of a certain race, color, religion, sex or national origin.

The existence and scope of state anti-discrimination legislation that could be interpreted to cover genetics varies. Most state laws prohibit: (i) discrimination based on particular traits or diseases; (ii) discrimination based on genetic test results; or (iii) insurers or employers from requiring that an individual take a genetic test and using the results.

Legislation reintroduced in the 110th Congress (S. 358/H.R. 493) has been marked up by the House Committee on Education and Labor and the Senate Committee on Health, Education, Labor and Pensions. The legislation would extend current federal protections against discrimination to health insurers in the individual market, and would further limit the use and disclosure of genetic information. The bills would also bar insurers from using genetic information or family history of disease in underwriting for an individual (as an individual or applied to a group).

S. 358 and H.R. 493 would also prohibit discrimination in employment because of genetic information and, with certain exceptions, prohibit an employer from requesting, requiring, or purchasing genetic information. If such information were obtained, the bills would require that it be treated as part of a confidential medical record. The bills include detailed provisions on enforcement which generally apply the remedies available in existing civil rights laws such as Title VII of the Civil Rights Act of 1964 (42 U.S.C. § 2000e-4 et seq). Neither bill addresses life or disability insurance.

Genetic nondiscrimination legislation has been debated since the 103rd Congress. Since that time, many of the arguments and positions supporting and opposing genetic nondiscrimination legislation have remained largely unchanged. On January 18, 2007, President Bush called on Congress to pass bipartisan genetic nondiscrimination legislation. Genetic nondiscrimination legislation is supported by consumer groups, the medical profession, researchers and the medical products industry (including pharmaceutical companies). Opposition to genetic nondiscrimination legislation has come from some members of the insurance industry and from employers, represented broadly by the Genetic Information Nondiscrimination in Employment (GINE) Coalition,8 which includes the U.S. Chamber of Commerce.

Supporters of the legislation argue that current laws are not clear on protection from discrimination based on genetic information; because existing federal laws have not been tested in court, the extent of their protection of genetic information is not assured. Despite the fact that few cases of genetic discrimination can be documented, supporters argue that proper protections are necessary to allay the fears of individuals about the potential for discriminatory practices. Allaying the public’s fears, they argue, will encourage individuals to seek beneficial health services, participate in much-needed clinical research, and otherwise reap the benefits of the publicly funded Human Genome Project (HGP).

Many professional and consumer groups argue that individuals should not be penalized in their ability to obtain insurance or a job because medical science can identify a genetic condition or a gene that predisposes a person to a future illness, but cannot yet offer an effective treatment. For example, the American Civil Liberties Union (ACLU) stated at a hearing in 2001 that “Americans should be judged on their actual abilities, not their potential disabilities.” On the other hand, this may create a disparity between people whose medical conditions have treatments available and those whose do not.

Opponents of enacting special legislation to prevent potential discrimination on the basis of genetic information argue that current federal and state protections are sufficient. The insurance industry also argues that additional regulation would be confusing, unnecessary and costly. They claim that it would be unfair to prohibit them from acquiring genetic information when they already use other health information. Some groups, such as the American Association of Health Plans (now a part of the America’s Health Insurance Plans), support the premise of federal nondiscrimination legislation and have indicated support for legislation that is consistent with their principles. However, others would further limit the definition of genetic information. One bill introduced in the 108th Congress (H.R. 3636) would have prohibited health insurers from discriminating based on predictive genetic information but would not have affected employers. The bill had no cosponsors, and many consumer groups indicated that they would not support nondiscrimination legislation without both insurance and employment provisions.

Some employers question whether legislation is necessary because there are few documented cases of discrimination based on genetic information, and there is no evidence that employers would use the information if they had it. In addition, employers argue that existing law provides adequate protection against genetic discrimination in employment. Randy Johnson, vice president of the U.S. Chamber of Commerce’s office of labor policy, stated that if the legislation were to pass, it should be narrowed to acknowledge that employers should be able to make employment decisions based on information that some workers with specified genetic markers could pose a “significant risk to others.” Other business coalition members suggest that the definition of “family member” should be revised to include only immediate family. Many also support federal preemption whereby any new federal law would preempt existing state law in this area.

This report provides an overview of the scope and current permissible uses of health information and genetic information. It reviews the existing evidence of genetic discrimination and the impact of the fear of discrimination. Then it provides a more detailed discussion of S. 358/H.R. 493 and the key issues raised by the genetic nondiscrimination bills. For a more detailed discussion of genetic testing and public policy, see CRS Report RL33832, Genetic Testing: Scientific Background for Policymakers, by Amanda K. Sarata.

Health Information

Understanding how health information is currently used and regulated provides a framework for discussion about whether extra protections are necessary for genetic information, and if so, which protections are most appropriate. Health information, which includes genetic information, is currently used by health insurers and employers. It is often presumed confidential, but increasing capabilities to store and rapidly transfer data electronically escalate the challenge of protecting privacy. Both the ways in which health insurers and employers use and are restricted from using health information are discussed in the sections that follow.

Use of Genetic and Other Health Information
by Health Insurers

Several federal laws help provide some protection against genetic discrimination in health insurance. These laws include the Health Insurance Portability and Accountability Act (HIPAA) of 1996 (specifically Title I: Health Care Access, Portability, and Renewability); the Social Security Act (SSA); and the HIPAA privacy rule. HIPAA prohibits group health plans from imposing a preexisting condition exclusion on the basis of genetic information or establishing eligibility requirements for any individual based on genetic information. However, HIPAA does not prohibit a group health plan from charging all members of a group higher premiums on the basis of an individual’s genetic information. The SSA contains provisions that prohibit discrimination in the pricing or issuance of Medigap policies on the basis of health status. However, those protections generally expire six months after a person becomes eligible for Medigap, and they do not expressly extend to genetic information. In addition, the SSA does not currently prohibit an issuer of a Medicare supplemental policy from requesting or requiring genetic testing.

The privacy rule gives patients the right of access to their medical information and places certain limitations on when and how health plans and health care providers may use and disclose medical information. Generally, plans may use and disclose information for their own treatment, payment, and health care operations without the individual’s authorization and with few restrictions. The rule covers all individually identifiable health information, including genetic tests and information about an individual’s family history. The rule permits a group health plan to disclose individually identifiable health information to an employer that sponsors the plan, provided the information is used only for plan administration purposes.

Health insurers typically use family history, among many health factors, in the process of placing individuals or groups in a risk category for determining their premiums (underwriting). Individuals or groups at higher risk may be charged higher premiums to cover the anticipated costs of their care. Traditional approaches to underwriting also use age, sex, type of occupation, financial stability of group members, employee turnover and prior cost (of care) experience to determine what a group’s insurance premium should be.

In general, premiums for a large group with one or two sick members can remain relatively stable, as the cost of the sick individuals is spread among all members of the group. However, as groups become smaller, the cost of insurance for the group is more dependent on the health of the individual group members, since one sick individual in a small group can result in high premiums for the whole group.

Individuals who are not part of a group coverage, seeking to purchase individual health insurance, must bear the entire premium increase associated with any illness, thus making such insurance prohibitively expensive for many sick individuals.

Insurers claim that most genetic information is not currently useful to the underwriting process because the clinical significance and relationship to the severity of illness is not known for many conditions. However, once the link to future illness is established and the costs thereof become predictable, insurers’ use of genetic information might be no different than the use of other diagnostic information. Some actuaries agree that adding diagnostic information significantly improves the power of traditional underwriting methods to predict future medical expense.

One author has provided a model demonstrating how genetic information (including family history) that has a known correlation to a specific disease, such as Huntington’s disease or breast cancer, could be used to underwrite life insurance. Some health care providers and consumers fear that the model could also be applied to health insurance. The model’s author suggests that insurers support screening for genetic mutations for which preventive interventions can reduce the risk of death. However, health insurers may disagree, depending on the nature, expense and effectiveness of the interventions in preventing symptoms and other medical costs of treating an acute or chronic illness. That which reduces the risk of death may not reduce health or disability expenses (and lower life insurance premiums). In addition, health insurers may be reluctant to bear the costs of preventive care. Particularly in a climate in which individuals change health insurers frequently, an insurer that pays for prevention may not ultimately reap the financial benefits of avoiding the illness.

The Problem of Adverse Selection. The predictive power of genetic testing raises a concern for insurers about the possibility of adverse selection. Adverse selection can occur when an insurance applicant knows — and the insurance company does not know — that the applicant has some health risk, possibly due to genetic information. In this case, the applicant may be motivated to purchase insurance with greater coverage and may be able to do so at a lesser premium.

Some argue that the specter of adverse selection requires that insurance companies have access to genetic information, or else their financial solvency may be threatened because individuals might obtain insurance at premiums that did not accurately reflect their risk of expenditures. Others argue that concerns about adverse selection with respect to genetic information may be unfounded. The majority of Americans receive their insurance through their employers, which are group rated (i.e., premiums are based on an assessment of the average risk among all employees). This system creates incentives for low-risk individuals to purchase coverage, thus diminishing the potential impact of adverse selection. In addition, some note that genetic information about disease risk may prove to be so complicated as to be essentially useless to an insurer. For example, for a complex multigenic disease, there may be numerous genes involved, each of which contributes relatively little to an individual’s risk of developing disease. In addition, these variants will be modified by environmental factors that further complicate the analysis.

Use of Genetic and Other Health Information by Employers One federal law, the Americans with Disabilities Act (ADA), may provide some protections against employers’ use of employees’ genetic information. The ADA prohibits employers from revoking an offer, or from making other promotion decisions on the basis of that health information. Though genetics is not specifically addressed by the ADA, the Equal Employment Opportunities Commission (EEOC) interprets the ADA to mean that employees and/or job applicants cannot be required to undergo genetic screening. However, current law permits employers to require medical examinations of prospective employees who have been given conditional offers of employment, if all employees in a similar situation are given the medical exam. Employers may also receive information related to applicants’ or employees’ current disability or health status when the information is related to the individuals’ abilities to do their job.

Supporters of genetic nondiscrimination legislation argue that because ADA does not explicitly address genetics, the ADA protections that would be applied by the court system are not clear. Opponents argue that the ADA protections are sufficient, and that the proposed legislation is not clear on workplace situations where an employee’s genetic makeup could interfere with the major functions of the individual’s job or put others at risk of harm.

Another federal law, the Occupational Safety and Hazard Act (OSHA), may permit employers to conduct some genetic tests on employees. OSHA establishes a legal duty for employers to protect employees from hazards in the workplace. Although the statute does not require an employer to perform particular tests, the employer may choose to implement programs that monitor employees’ potential exposure to toxic or hazardous elements. Standards for these programs allow for genetic testing.

Genetic monitoring for acquired damage resulting from exposure to a toxic element is different from genetic screening for an inherited predisposition to an occupationally related disease. For example, monitoring may be used to determine if an employee is developing DNA damage from being exposed to asbestos. On the other hand, a different type of test could potentially determine if the employee were more susceptible to asbestos damage to begin with. The distinction may be relevant should questions arise regarding whether any ill-health effects sustained by the worker were a result of occupational exposure.

Genetic Information

As noted in the introduction, the definition of genetic information is a key issue for Congress in its consideration of genetic nondiscrimination legislation, because the broader the definition the more expansive the prohibitions on discrimination. The definition of genetic information varies among sources. Genetic information is generally described as the information from a genetic test about genes, gene products, inherited characteristics or other traits that are derived from an individual or an individual’s family member(s). Information about an individual’s current health status (such as sex, age, results of physical examination, and chemical, blood, or urine analysis, where the analyses do not provide information about an individual’s genotype) is generally not considered to be genetic information. The two key sources of genetic information are family medical histories and genetic test results.

Is Genetic Information Different
from Other Health Information?

Understanding the ways in which genetic information is like and unlike other types of information can help to inform the debate over the need for genetic-specific nondiscrimination legislation. Congress faces two questions on this topic. First, is genetic information different from other health information? Second, if so, do the differences indicate that genetic information merits additional protections?

Genetic information has been described as being different from other health information because of factors such as its stability, its unique predictive qualities, its potential use for individual and familial identification, and the impact that public fear of discrimination is having on the behavior of patients and healthcare providers. Some argue that these factors may make the misuse of genetic information
particularly detrimental to individuals, and, therefore, that the information deserves special protections. Further, they argue that the public health benefits that could come from large-scale genetic research and the utilization of new genetic technologies may not be fully realized unless public fear is assuaged by genetic nondiscrimination legislation.

Those opposed to special protections assert that genetic information is fundamentally no different than other health data, at least not in ways relevant to special protections, and that genetic information is already adequately protected by medical privacy laws. The Senate report for S. 1053 (S.Rept. 108-122), the genetic nondiscrimination bill that was passed by the Senate in 2003, included the statement that eventually “it may not be possible or even desirable in health care delivery or scientific research to isolate genetic information as it pervades health information.” To address the question of whether genetic information merits special protections, one study compared the experiences, attitudes and beliefs of persons with genetic conditions (cystic fibrosis and sickle cell disease) to those with other serious medical conditions (diabetes, HIV, breast cancer and colon cancer) and to persons at risk for developing a disease (breast or colon cancer) due to strong family history.

The authors found that in most instances, patients felt strongly that their health information needed to be protected regardless of whether it was genetic. In fact, respondents indicated that information about non-genetic stigmatizing conditions — such as abortion history, mental health history, drug and alcohol history, HIV status, and sexually transmitted disease — needed special protection. Based on their findings, the authors concluded that separate privacy policies for genetic and nongenetic health information would be unwarranted.

Other studies and public opinion polls suggest that patients and members of the community desire and may benefit from additional protections for their genetic information. A 2003 study of 470 people with a family history of colorectal cancer showed that nearly half rated their level of concern about genetic discrimination as high. Those individuals with high levels of concern indicated that they would be significantly less likely to consider meeting with a health care professional to discuss genetic testing, or to undergo testing. A 2004 survey by the Center for Genetics and Public Policy found that 92% of survey respondents thought employers should not have access to their genetic test results, and 80% opposed letting insurance companies have access to results.

What Evidence Is There
That Genetic Discrimination Exists?

Critics of genetic nondiscrimination legislation have argued that legislation is not necessary because genetic discrimination is not occurring. There have indeed been relatively few reported cases of genetic discrimination in health insurance and employment. Rothenberg and Terry hypothesize that this is because: (1) the use of genetic information by employers and insurers is not widespread; (2) affected persons may not know the underlying basis for adverse employment or insurance decisions; and (3) many cases may go unreported because of disincentives associated with publicizing discrimination lawsuits. Reports of cases of genetic discrimination and genetic testing by employers are presented below.

Cases of Genetic Discrimination

There have been a few studies of the prevalence of genetic discrimination in health insurance, employment, and other settings, and these studies are quite dated. One study reported that 22% of survey respondents indicated that they or a family member were refused health insurance as a result of a genetic condition. This study was strongly criticized by the Health Insurance Association of America (HIAA) at the time, which argued that there is no evidence showing that insurers engage in genetic discrimination, and that federal legislation to prohibit discrimination based on genetic information is unnecessary. However, another study found that a number of institutions, including health and life insurance companies, health care providers, blood banks, adoption agencies, the military and schools, were reported to have engaged in genetic discrimination against asymptomatic individuals. The alleged discriminatory practices included an insurance company treating a genetic diagnosis as a preexisting condition, an adoption agency refusing to allow a woman at risk for Huntington’s disease to adopt a child, and an employer terminating an employee after the employee disclosed a risk of Huntington’s disease.

On October 18, 2004, several individuals shared stories of genetic discrimination with the Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS). These cases are highlighted below:

• Phil Hardt has hemophilia B, a bleeding disorder, and Huntington’s disease. He testified that a human resource manager for an early employer had indicated that he should withhold information about his hemophilia and any bleeding episodes from his employer or he would never be promoted or trained. In addition, he indicated that his daughter was unable to receive mortgage life insurance unless she tested negative for Huntington’s disease. His grandson was denied health insurance because of the hemophilia B that he inherited, and he was forced to accept lower wages so that they could qualify for state welfare and insurance coverage. Two of his other children decided to pay out of pocket to be tested anonymously for Huntington’s disease to protect them from discrimination. Mr. Hardt applied — and was rejected — for long-term care insurance.
• Rebecca Fisher, a mother and early-onset breast cancer survivor with a strong family history recounted how her employer, a small, selfinsured community hospital, was more concerned that the cost of her bone marrow transplantation and other health care had exceeded the cap for that year than with her health or productivity.
• Tonia Phillips, a woman with a BRCA1 mutation in her family, chose to undergo prophylactic surgery to reduce her risk of breast and/or ovarian cancer. After her procedures, her employersponsored health insurance policy had increased by $13,000. Her employer asked her to switch to her husband’s policy, and in doing so, indicated that she would receive a wage increase.
• Paula Funk, another individual who carried a BRCA1 mutation, indicated that, because of the potential for discrimination, she and her family paid out of pocket for testing so her physicians and health care providers would not write her BRCA1 status on insurance claims forms. She further testified regarding her difficulty in finding an insurance company that would cover herself and her husband, coowners of a small business, as a group so that their premiums would be affordable, given her family history and genetic testing status.
• Heidi Williams, an individual diagnosed with alpha-1 antitrypsin deficiency, also spoke at a press conference at the House of Representatives on April 1, 2004. She explained that a large health
  insurance company (Humana) had denied health insurance coverage for her two children on the basis that they were carriers of alpha-1 antitrypsin disease. Carriers only have one copy of an abnormal gene, and typically do not exhibit symptoms of the disease. After receiving inquiries from the Genetic Alliance (a consumer advocacy organization) and the press, the insurance company reversed its decision to deny coverage, and provided six months of free coverage.
• On July 20, 2000, Terri Seargent, also an individual diagnosed with alpha-1 antitrypsin deficiency, filed a statement with the Senate Health, Education, Labor and Pension Committee indicating that soon after her diagnosis, she was unexpectedly released from employment. Without a job, and having a pre-existing condition, she also lost her health, life and disability insurance. Later, an investigation by the Equal Employment Opportunity Commission (EEOC) supported her allegation of discrimination under the Americans with Disabilities Act (ADA).

It is difficult to gauge the appropriate weight that clusters of stories like those above should have in the policy arena. On one hand, drawing broad conclusions based on a few examples may not be valid. On the other hand, obtaining information from a representative sample of the population may be difficult, because individuals may be reluctant to share their personal genetic information.

Genetic Testing by Employers

Employers’ testing of employees for genetic markers is not currently believed to be a widespread practice; however, surveys of employer practice and employee experience indicate that some instances exist. No cases of employment discrimination based on genetics have been decided in a federal court or the U.S. Supreme Court. However, several have been brought or threatened, and two cases were settled out of court.

Surveys of Employers. Employers have long been interested in identifying “optimal” employees using non-health characteristics — such as behavior (i.e., substance abuse, mental instability, compulsive disorders) or intelligence — to identify special skills or deficits that are predictive of productivity. Though
behavioral genetic testing is not ready for commercial use (largely due to the very complex interaction o genes and the environment), other forms of testing are common.

The American Management Association (AMA) has conducted several surveys of employers’ medical testing practices. In a1998 survey, the AMA questioned the employers about their use and understanding of what constituted a genetic test.

Respondents were presented with National Institutes of Health’s definition of genetic test: “an analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes. Such purposes include predicting risk of disease, identifying carriers, and establishing prenatal and clinical diagnosis or prognosis.” Only two respondents (out of 1,627) indicated that they performed genetic testing. A larger percentage (14.3%) indicated testing for “susceptibility to workplace hazards.” The results were modified by a 1999 follow-up survey in which AMA found that not all of the testing their 1998 respondents had characterized as “genetic” actually was. Only nine of 44 employers who indicated having testing programs actually had genetic testing programs. Some employers believed that any blood test constituted genetic testing; others believed that diagnostic testing, rather than susceptibility testing, was genetic testing.

In 2001, the AMA conducted another survey of employers’ medical testing practices. The results indicated that 68% of major U.S. firms required medical examinations for new hires, current employees, or both. These were most frequently required in public administration and manufacturing positions and less frequently in business or professional positions. Establishing “fitness for duty” was the leading reason that firms engaged in complete medical examinations (48% of respondents).

Testing for illegal substance use was the most common form of workplace testing, practiced by 67% of employers. Some employers also reported testing new or current employees for the genetic diseases sickle cell anemia (1.3%) or Huntington’s disease (0.4%), and a larger proportion asked about family medical history (20.1%). In addition, some employers indicated that they used the medical test results — about sickle cell anemia (1.0%), about Huntington’s disease (0.8%), and about family history (5.5%) — for purposes of hiring, reassigning, retaining or dismissing employees.

Surveys of Consumers. A 1996 study of 332 consumers who were members of genetic support groups found that 13% of respondents reported that they or another family member were denied a job or let go because of a genetic condition in the family. The experience was significantly different for respondents who had a genetic condition (21%) compared to respondents who did not have a genetic condition (4%). Two examples were highlighted: one respondent, a man with a sex chromosome disorder, indicated that he was denied a job when a doctor wrote the name of the disorder on his medical report during his pre-employment physical. The potential employer told the applicant of the decision and, knowing it was illegal, also stated that they would deny having the conversation. In the second example, a woman with a skeletal disorder reported that her employment was terminated after she informed her employer of her diagnosis. The woman sought legal counsel, and the termination was withdrawn.

Authors of a recently published study interviewed approximately 100 adults or parents of children with sickle cell disease, cystic fibrosis, diabetes, and HIV, and 200 adults with or at risk for breast or colon cancer about their experiences and attitudes regarding health insurance. Twenty-seven percent of the respondents self-reported having been denied health insurance or offered insurance at a prohibitively expensive rate. Respondents with sickle cell disease and cystic fibrosis were twice as likely to report this as those with non-genetic conditions (e.g., HIV).

More than one-third of all respondents thought there was a high chance they would be denied health insurance in the future or their insurance would become unaffordable. While the study may have suggested that insurers make decisions based on genetic information or diseases, S. 358/H.R. 493 would only limit discrimination due to genetic predisposition to diseases. The bills would have no effect on insurance availability or costs for people like many of those in the study who had manifested genetic diseases.

Court Cases and Legal Settlements. To date, there have been two court cases alleging genetic discrimination. In 2002, Burlington Northern Santa Fe Railway Corporation, one of the country’s biggest railroads, agreed to pay $2.2 million to settle charges related to genetic testing and discrimination. Employees charged those who had filed for workers compensation for carpel tunnel syndrome CTS) were tested without their knowledge for a genetic marker dubiously associated with the syndrome. CTS is a painful hand and wrist condition caused by repetitive motion. The railway denied violating the law, and insisted that testing was necessary to determine the cause of injury to 36 employees who claimed to have job-related CTS (20 actually underwent testing before the program was voluntarily suspended). Burlington Northern halted the testing under the terms of a settlement shortly after a lawsuit was filed.

In another case, Lawrence Berkeley Laboratory was accused of conducting pre-employment screening for sensitive medical information, testing for genetic traits such as sickle cell trait, and for non-genetic factors such as syphilis and pregnancy. The case was settled out of court in 1999. Prior to settlement, the employees had filed a court case, claiming that the Laboratory had violated Title VII and right to privacy as guaranteed in the U.S. and California Constitutions. In response, the laboratory sought to have the case dismissed without a trial (in summary judgement), claiming that the employees had waited so long after the alleged testing to file their case that their right to sue had expired (the statue of limitations had tolled). On this issue, an appellate court sided with the plaintiffs, determining that the question of when employees knew or had reason to know that the laboratory was conducting testing should be decided by a court (issues of material fact existed), thus precluding summary judgement. (Norman-Bloodsaw v. Lawrence Berkeley Laboratory (135 F.3d 1260, 1269; 9th Cir. 1998)).

Impact of the Fear of Discrimination on Behavior

While there are few documented cases of genetic discrimination by employers and health insurers, studies have shown that public fear of discrimination influences both the use of genetic testing and the use of genetic information by consumers and health professionals. Fear of genetic discrimination may cause consumers to refuse genetic testing and therapies that could be beneficial to their health. It may deter people from participating in genetic research, thus slowing the development of new technologies. In other words, whether or not genetic discrimination is actually occurring, public worry about the issue may itself have detrimental effects. Related questions have been raised about whether genetic counseling, in which professionals inform and assist patients making genetic-related healthcare decisions, may serve to unduly increase the fear of discrimination, amplifying the behavioral impact. Both examples of the behavioral impact of genetic discrimination and investigation into the role of genetic counseling are presented in this section.

Examples of the Impact of Fear of Discrimination on Behavior

In January 2000, the Secretary’s Advisory Committee on Genetic Testing (SACGT) sponsored a public forum that focused on the impact that the fear of genetic discrimination was having on various groups. SACGT received comments from patients, consumers, health professionals, scientists, genetic test developers, educators, industry representatives, policymakers, lawyers, students and others representing a wide range of diverse ethnic and racial groups, and from a survey mailed to 2,500 individuals. The comments revealed several anecdotal cases of discrimination, and resulted in the committee forwarding two letters to the Secretary of Health and Human Services (HHS) urging support for nondiscrimination protections:

During consultations with the public SACGT heard from many Americans who are concerned about the misuse of genetic information by third parties, such as health insurers and employers, and the potential for discrimination based on that information. Many stated that fear of genetic discrimination would dissuade them from undergoing a genetic test or participating in genetic research studies.

Others stated that they would pay out of pocket for a genetic test to prevent the results from being placed in their medical record. Such concerns are a deterrent to advances in the field of genetic testing and may limit the realization of the benefits of genetic testing.

Some examples of the specific impact that the fear of genetic discrimination has on behavior were provided in October 2004, when several individuals testified at a SACGHS meeting:

• Carolina Hinestrosa, a 10-year, two-time survivor of breast cancer and executive vice president for programs and planning of the National Breast Cancer Coalition stated that despite her strong personal and family history, she has not undergone genetic testing for fear of discrimination against herself and her daughter.
• A mother, Phaedra Malatek, described how her family has not taken advantage of the health benefits of genetic testing for hemochromatosis that ran in her family because of their fear of losing their health insurance, and possible discrimination against her children when they seek employment.

Surveys of professionals and patients suggest that individuals are most likely to withhold information about genetic testing from insurance companies and their employers. A survey of genetic counselors found that, should counselors themselves be at risk of developing either breast cancer or hereditary non-polyposis colon cancer, most (108 out of 159 surveyed) would not submit charges to their insurance companies primarily because of the fear of discrimination. Twenty-five percent would use an alias when obtaining a test to reduce the risk of discrimination and maximize confidentiality. Most respondents indicated that, while they would share results with their physicians, family and friends, 60% would not share the information with colleagues because of the need for privacy and fear of job discrimination based on the result.

Of 91 participants in a study on hereditary pancreatitis, 22% believed that knowing their test results “might lead to medical insurance discrimination” for themselves or their families. While most individuals would share information with a physician or their family, only 4% indicated they would share results with their insurance companies, and 20% would share them with their employers. Another study of 98 extended families with a history of breast or ovarian cancer, reported on 716 of 1,315 individuals who underwent counseling and DNA testing. Before receiving results, about half were concerned about insurance discrimination, and 1% indicated that they felt strongly that their family history of cancer had been the basis for insurance discrimination.

A group of scientists at the University of Michigan offered genetic testing for susceptibility to breast cancer to 184 individuals participating in a cancer risk evaluation clinic. Patients were charged about $225 for the initial consultation, and were required to pay Myriad Genetics directly for any testing they pursued. At the time, Myriad charged $395 for analysis of a single mutation, $450 for analysis of three common mutations found in individuals of Ashkenazi Jewish descent, and $2,400 for full sequencing of the breast cancer susceptibility genes (also called BRCA1 and 2). Patients had the option of self-paying, or billing their insurance companies. Though discussion of potential discrimination was standard practice in the counseling session that accompanied testing, the researchers only counted concerns initiated by the patient during the session. Of the 184 patients, 106 underwent testing. Of the 78 patients who declined testing, 48 (or 26% of the original cohort of 184) declined due to concerns about cost, confidentiality or insurance discrimination. The authors found it difficult to separate these concerns.

Although a patient may have wanted to self-pay for fear of potential discrimination, the high cost of testing may have forced the patient to choose to bill insurance, or decline testing. The authors estimated that approximately 14% of patients eligible for testing would have had a BRCA mutation, but would not undergo testing because of cost, discrimination, or confidentiality concerns.

A follow-up telephone interview was conducted with 92 of the 184 patients concerning their actual experiences with their insurance companies. Of the 92, 15% paid out of pocket, intentionally not involving their insurance companies, while 38% (35 of 92) indicated that they did not have any problems obtaining insurance coverage for the services requested. However, of those 35 patients, 23 only requested payment for the consult and surgery — not the testing — from their insurers. The remaining 47% experienced various difficulties in obtaining coverage for some or all of the services. The patient’s family income was a significant factor in the decision to seek insurance reimbursement. In another study of 68 patients offered genetic testing for breast cancer, while 18 had access to free testing, and 13 sought insurance reimbursement, the remaining 37 chose to pay out of pocket citing concerns over insurability and confidentiality reasons. Other authors have postulated that those with the lowest income who were covered by government healthcare programs, such as Medicaid, may be less concerned about genetic discrimination because their eligibility for health insurance does not depend on health status or underwriting decisions.

The Role of Genetic Counseling

When viewing evidence of the ways in which fear of genetic discrimination affects behavior, some have questioned whether genetic counseling itself may inadvertently add to the fear. The risk of discrimination by employers and insurers is often discussed in the counseling session that accompanies testing. Most counselors typically spend up to 15 minutes of a one- to two-hour counseling session discussing patient concerns about discrimination, even in states with more comprehensive anti-discrimination laws. Counselors typically note that actual cases of discrimination are few, and will provide information regarding the various legal protections. While many counselors indicate that a significant proportion (25-50%) of patients may decline testing due to potential discrimination, other patients accept testing because the benefits of the information to their health or the health of a relative outweigh the risk of discrimination. Either way, counselors note that the potential risk adds to an already stressful situation.

In order to reassure patients about privacy, genetic counselors may vary their practices in several ways: they may be discreet about how a visit is documented (i.e., for cancer screening, not genetic testing); they may not send the results to the referring physician unless asked specifically by the patient to do so; or, they may request that the physician keep the results in a separate medical record. Some will forward coded samples to the laboratories for testing. Many genetic counselors willthemselves maintain patient files that are separate from the rest of the hospital or medical center’s records to minimize the possibility that an insurer will obtain genetic information in the process of reviewing a medical record for reimbursement.

Genetic counselors note that the fears associated with predictive testing for future adult onset illness are not as apparent in testing in the prenatal and pediatric populations. Presumably this is because of the “crisis atmosphere” created with the diagnosis of a potential birth defect and the parents’ decision of whether or not to terminate a pregnancy. In some cases including those involving newborns, the fear of insurability may be mitigated by the fact that children are covered under their parents’ policies. However, some counselors have expressed concern about the way in which genetic information will be viewed when children become adults and have to find insurance on their own.

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