"Our laws and institutions must go hand-in-hand
with progress of the human mind."
-- Thomas Jefferson
As the Human Genome Project makes it ever easier to find genetic alterations associated with human disease, unprecedented opportunities are arising to treat or prevent those diseases. However, as knowledge grows about the genetic basis of disease, so too does the potential for discrimination and stigmatization based on genetic information. Too many Americans fear that their genetic information will be used to discriminate against them and too often they are right. Federal legislation is needed to guarantee access to health insurance coverage irrespective of an individual's genetic makeup.
The Human Genome Project (HGP) has brought with it the promise of a whole new way to understand, treat and prevent many human diseases. For children born with a baffling inherited disorder, genetic technologies can put an end to the often long and agonizing search for a diagnosis. For healthy people from families prone to a later-onset disease, genetic technologies, such as simple DNA tests, can tell people and their health care providers who has an increased likelihood of developing the disorder and who does not. At one time, such medical clairvoyance seemed like science fiction. But not any more. Scientists have made tremendous strides in understanding genetics. In the next few years we will know the exact location and letter-by-letter sequence of each of the 80,000 or so genes in the human genome and begin comprehensive studies to understand how they work.
Genetic tests for glaucoma, colon cancer, inherited kidney cancer, and other disorders are already helping to identify high-risk individuals before they become ill. In a Chicago hospital, for example, "Patty," who had tested positive for a cancer-related gene mutation called MEN2, has had her thyroid gland removed. She inherited the altered gene from her father who had thyroid cancer. Because his children have a 50-50 chance of inheriting the altered gene, doctors tested Patty and her only sibling. Patty turned out to carry the MEN alteration. Because this mutation placed Patty at very high likelihood of developing thyroid cancer, her doctors recommended that she have her thyroid removed. At the time of surgery, Patty's thyroid gland already contained small, potentially lethal, cancers. She now takes a pill every day to replace her thyroid hormones, but her chance of developing MEN-related cancer is very low.
This past year scientists discovered a mutated gene that leads to hereditary hemochromatosis (HH), a common disorder of iron metabolism, affecting about 1 in 400 individuals of Northern European descent. Because HH is so common and easily treatable, it potentially provides an excellent example for offering genetic testing on a large scale to identify people at risk for a disease and enabling them to avoid becoming ill. The major symptoms of HH - liver cirrhosis, heart deterioration, and other organ failures - don't occur until mid-life, and left untreated, the disease causes early death. But treatment by simple blood letting to remove excess iron allows people with HH to live a normal lifespan.
Today, genetic tests are available primarily in academic medical centers for some 450 disorders, most of which are rare. Genetic tests can identify DNA alterations in people who have already developed a disease, in healthy persons who may be at risk of developing a genetic disorder later in life, or in people who are at risk of having a child with an inherited disorder. Over the next decade, genetic testing will become ever more commonplace throughout the health care system. For example, an NIH Consensus Development Panel recently recommended that genetic testing for cystic fibrosis mutations be offered to all couples planning a pregnancy or seeking prenatal testing. This is the first time that offering genetic testing has been recommended for such a large population group. Genetic technologies will soon play a role in nearly every field of health care.
Genetic tests can save health care dollars by identifying those in high-risk families who might benefit from close medical surveillance, and who might not. "Beth," for instance, is a 47-year-old mother of two. Two of her brothers and her father were diagnosed with colon cancer, and her grandmother died of uterine cancer. Of course, Beth was concerned that she too might develop cancer. About 10 years ago, she asked her doctor about her colon cancer risk, but Beth's family history pattern did not fit a known syndrome at the time. With no genetic test available for her condition, her doctor could only say that her risk of colon cancer was higher than average. Worried about her risk, and wanting to detect any cancers early, Beth began an annual program of expensive and uncomfortable colonoscopies.
Six years after Beth first inquired about her cancer risk, an experimental genetic test became available that could tell Beth if she inherited the genetic alteration that caused the cancer in her family. Beth took this simple test and learned she had not inherited the cancer-causing alteration. Immediately, Beth stopped the annual colonoscopies, saved thousands of dollars for both her and her insurance company, and brought an end to the unnecessary medical procedure. Perhaps most importantly, because she now knew that her risk for colon cancer was no greater than that of the general population, Beth gained peace of mind for herself and for her two children.
The Human Genome Project (HGP) has given us the technology to decipher what were once an individual's most personal and intimate "family secrets," that is, the information contained in our DNA. The instructions encrypted in our genes affect nearly every function a human body carries out - in a moment, a day, or a lifetime. Research to understand those instructions offers the promise of better health because it gives researchers and clinicians critical information to work out therapies or other strategies to prevent or treat a disease.
What if we could prevent or reduce the effects of many common diseases by simple changes in lifestyle or avoidance of specific environmental substances? Many of the diseases we face - such as high blood pressure and other familiar diseases of the heart and circulatory system, diabetes, obesity, cancer, psychiatric illness, asthma, arthritis - have been difficult to study and treat because almost all involve subtle actions of several genes and the environment. Scientists are rapidly developing advanced technologies to identify each of the genes that contribute to a complex disorder and study their interactions all at once. The goal is to tease apart which disease components are genetic and which are environmental.
The slowest part of a disease-gene hunt nowadays is sorting through all the genes in the target region on a chromosome and determining which one is responsible for the disease. But this is rapidly changing. New gene maps now pinpoint the locations of more than one-fourth of all human genes, and more are developed every day.
The complete set of genetic instructions will give researchers basic information about how a human cell works as a system, or how the cells of a brain or a heart work together, or how a single fertilized cell develops into a fully formed baby. Spelling out, letter by letter, the complete genetic instructions of a human being will bring with it new technologies that make identifying DNA differences effortless compared with what we can do today. Imagine analyzing your genetic composition on a computer chip, carrying your DNA "bar code" on a small plastic card, encrypted to protect privacy, that lets health care professionals instantly know your predisposition to disease, your reactions to drugs, or your susceptibility to certain environmental exposures. All of these will become realities as we continue to make advancements in genetics.
The ability to examine our DNA for the presence of disease-related alterations opens the door to a new twist on an old injustice: "genetic" discrimination - when people, either as groups or individuals, are treated unfairly because of the content of their DNA. The increased availability of genetic information raises concerns about who will have access to this potentially powerful information. Each of us has between 5 and 30 misspellings or alterations in our DNA; thus, we could all be targets for discrimination based on our genes. Like racism, sexism, and other forms of prejudice, genetic discrimination devalues diversity, squanders potential and ignores achievement.
Genetic information has been used to discriminate against people in the past. In the early 1970s, some insurance companies denied coverage and some employers denied jobs to African Americans who were identified as carriers for sickle-cell anemia, even though they were healthy and would never develop the disease.
Of particular concern is the fear of losing or being denied health insurance because of a possible genetic predisposition to a particular disease. For example, a woman who carries a genetic alteration associated with breast cancer, and who has close relatives with the disease, has an increased risk of developing breast and ovarian cancer. Knowledge of this genetic status can enable women in high-risk families, together with their health care providers, to better tailor surveillance and prevention strategies. However, because of a concern that she or her children may not be able to obtain or change health insurance coverage in the future, a woman currently in this situation may avoid or delay genetic testing.
These are real concerns for too many Americans. In a recent survey of people in families with genetic disorders, 22 percent indicated they, or a member of their family, had been refused health insurance on the basis of their genetic information. The overwhelming majority of those surveyed felt that health insurers should not have access to genetic information. A 1995 Harris poll of the general public found a similar level of concern.
Over 85 percent of those surveyed indicated they were very concerned or somewhat concerned that insurers or employers might have access to and use genetic information.
Discrimination in health insurance, and the fear of potential discrimination, threaten both society's ability to use new genetic technologies to improve human health and the ability to conduct the very research we need to understand, treat, and prevent genetic disease.
To unravel the basis of complex disorders in the large numbers of individuals they affect, scientists must analyze the DNA of many hundreds of people for each disease they study. Valid research on complex disorders will require the participation of large numbers of volunteers. But a pall of mistrust hangs over research programs because study volunteers are concerned that their genetic information will not be kept confidential and will be used by insurers to discriminate against them. Information about research participant's genetic composition must be protected from misuse.
Participants in Dr. Barbara Weber's research program on breast cancer worry a great deal about genetic discrimination (Cowley, Geoffrey: "Flunk the Test and Lose Your Insurance," Newsweek, 48-50 (Dec 23, 1996). She and her coworkers in Pennsylvania are trying to understand how to keep women with breast cancer gene mutations healthy by studying them closely for several years. But nearly one-third of the high-risk people Dr. Weber invites into the study refuse because they fear discrimination and/or a loss of privacy. So strong is the fear of misuse of genetic information obtained in research programs that many physician-researchers leave genetic test results out of the study medical record or warn study participants not to give the information to their private physicians. In some instances, patients and/or their providers may be forced to tell outright lies about genetic test results.
In genetic testing studies at the NIH, nearly 32 percent of eligible people offered a test for breast cancer risk decline to take it. The overwhelming majority of those who refuse cite concerns about health insurance discrimination and loss of privacy as the reason.
In an ongoing study, researchers are assessing individuals who have already had cancer and their families. Because individuals who have had cancer have already been categorized as a high risk by insurers, participants in this study are somewhat less concerned about the potential for health insurance discrimination. The vast majority of individuals invited to have genetic testing as a part of the research project have agreed to be tested. Those who have opted not to be tested state that knowledge of how this information might be used was a determining factor.
In 1995, the National Action Plan on Breast Cancer (NAPBC, coordinated by the U.S. Public Health Service Office on Women's Health) and the NIH/DOE Working Group on Ethical, Legal and Social Implications of Human Genome Research (ELSI Working Group) tackled the issue of genetic discrimination and health insurance. This effort built on the ELSI Working Group's long standing interest in the privacy and fair use of genetic information and the NAPBC's mandate to address priority issues related to breast cancer. The following recommendations were published and made available to state and federal policy makers:
In developing these recommendations, the NAPBC and ELSI Working Group developed the following definitions: "Genetic information" refers to information about genes, gene products or inherited characteristics that may derive from the individual or a family member.
The term "insurance provider" refers to an insurance company, employer, or any other entity providing a plan of health insurance or health benefits including group and individual health plans whether fully insured or self-funded.
These recommendations would prevent insurers from having access to genetic information, from being able to misuse this information, and from disclosing it to others.
Today, 19 states have enacted laws to restrict the use of genetic information in health insurance. These range from very narrow prohibitions in earlier legislation (e.g., Alabama in 1982 prohibited insurers from denying coverage because an applicant had sickle cell anemia) to fairly comprehensive prohibitions with strong privacy protections in more recent legislation (e.g., Wisconsin in 1991, New Jersey in 1996, and California in 1994, 1995 and 1996). Since January of this year, at least 31 states have introduced legislation to prohibit genetic discrimination in insurance. The large volume of legislative activity at the state level is a positive indication of the level of concern about this important issue.
A law passed in Arizona this year prohibits health and disability insurers from rejecting an application or determining rates, terms or conditions on the basis of a genetic condition and prohibits requiring the performance of a genetic test without written informed consent. Governor Symington signed the bill into law in spite of threats by the insurance industry to leave the state.
The Illinois Legislature passed the Genetic Information Privacy Act in May, 1997. The Act is currently pending approval by the governor. The Act prohibits insurers from seeking genetic information derived from genetic testing and from using genetic testing information for non-therapeutic purposes. This bill was originally introduced by Representative Moffitt at the request of an ovarian cancer survivor whose mother and grandmother had died of ovarian cancer. This constituent wanted to be tested for BRCA1 in order to help her daughters and grand-daughters. Her doctor warned, however, that if she tested positive, she and members of her family could lose health care coverage. Based on that threat, she chose not to be tested. (She has since been tested anonymously and tested negative.)
The current patchwork of state legislative approaches does not provide a comprehensive solution to genetic discrimination in health insurance.
First, private sector employer-sponsored health plans that provide benefits for employees and their dependents through self-funded arrangements are generally exempt from state insurance laws pursuant to the Employee Retirement Income Security Act (ERISA) preemption. Thus, even if states enacted legislation modeled on the NAPBC-ELSI Working Group recommendations, approximately 125 million people, nearly one-half of all Americans, covered by such self- funded plans would not be protected.
Second, with the exception of a few states, these laws focus narrowly on genetic tests rather than more broadly on genetic information generated by family history, physical examination, or the medical record. Although insurers are prohibited from using the results of a chemical test of DNA, or the protein product of a gene, they may still use other physical/ physiological (phenotype) indicators, pattern of inheritance of genetic characteristics, or even a request for genetic testing as the basis for discrimination. Thus, meaningful protection against genetic discrimination requires that insurers be prohibited from using all information about genes, gene products, or inherited characteristics to deny or limit health insurance coverage.
In 1996, Congress enacted a law, called The Health Insurance Portability and Accountability Act (HIPAA), which took a significant step toward expanding access to health insurance. But HIPAA doesn't go far enough. Americans are still largely unprotected by federal law against insurance rate hikes based on genetic information and against unauthorized people or institutions having access to the genetic information contained in their medical records. HIPAA includes genetic information among the factors that may not be used to deny or limit insurance coverage for members of a group plan. Further, HIPAA explicitly excludes genetic information from being considered a pre-existing condition in the absence of a diagnosis of the condition related to such information. The law specifically uses the broad, inclusive definition of genetic information recommended by the NAPBC/ELSI Working Group. Finally, HIPAA prohibits insurers from charging one individual a higher premium than any other "similarly situated" individual in the group.
These steps towards preventing discrimination based on genetics are significant, but HIPAA left several serious gaps that can now be closed by Administration-supported legislation.
First, the protections in HIPAA do not extend to the individual health insurance market. Thus, individuals seeking coverage outside of the group market may still be denied access to coverage and may be charged exorbitant premiums based on genetic information. While only approximately 5 percent of Americans obtain health insurance outside the group market today, many of us will, at some point in our lifetime, purchase individual health insurance coverage. Because genetic information persists for a lifetime and may be transmitted through generations, people who are now in group plans are concerned about whether information about their genes may, at some point later in their life, disallow them from being able to purchase health insurance outside of the group market.
Second, while HIPAA prohibits insurers from treating individuals within a group differently from one another, it leaves open the possibility that all individuals within a group could be charged a higher premium based on the genetic information of one or more members of the group.
Finally, HIPAA does nothing to limit an insurer's access to or release of genetic information. No federal law prohibits an insurer from demanding access to genetic information contained in medical records or family history or requiring that an individual submit to a genetic test. In fact, an insurer can demand that an individual undergo genetic testing as a condition of coverage. Further, there are no restrictions on an insurers' release of genetic information to others. For example, at present, an insurer may release genetic information, and other health-related information, to the Medical Information Bureau which makes information available to other insurers who can then use it to discriminate. Because genetic information is personal, powerful, and potentially predictive, it can be used to stigmatize and discriminate against people. Genetic information must be private.
Congressional interest in securing health insurance protection for genetic information is strong and bipartisan. Senator Hatfield and Representative Stearns introduced the first bill on genetic discrimination in health insurance and employment in November 1995. Twelve bills addressing genetic information access and/or use were introduced in the 104th Congress. Many of these bills are being reintroduced in the current Congress.
Representative Solomon (R-NY) introduced H.R. 328, Genetic Information Health Insurance Nondiscrimination Act of 1996. This bill was rewritten to close the "loopholes" in HIPAA by addressing discrimination in the individual health insurance market, but it does not prohibit rate increases in the group health insurance market.
Genetic Confidentiality and Nondiscrimination Act of 1997 (S. 422) introduced by Senator Domenici (R-NM) is a broad bill that seeks to address privacy and fair use of genetic information in many settings. The bill includes a title that would prohibit health insurers from using genetic information that follows the NAPBC-ELSI Working Group recommendations. However, this bill refers only to "any molecular genetic information about a healthy individual or a healthy family member ..." rather than the broader definition of genetic information that includes family history.
The Genetic Information Nondiscrimination in Health Insurance Act of 1997 (H.R. 306) introduced by Representative Slaughter (D-NY) most closely tracks the recommendations made by the NAPBC/ELSI Working Group. This bill successfully closes the "loopholes" in HIPAA by prohibiting rate increases in the group health insurance market based on genetic information, prohibiting the use of genetic information in the individual health insurance market, and placing restrictions on the collection and disclosure of genetic information by insurers. As of July 1, 1997, H.R. 306 had 132 co-sponsors and 67 supporting groups. The Senate companion bill, The Genetic Information Nondiscrimination in Health Insurance Act of 1997 (S. 89), was introduced by Senator Snowe (R-ME).
On May 18, 1997, President Clinton, in his commencement address at Morgan State University, urged "Congress to pass bipartisan legislation to prohibit insurance companies from using genetic information to determine the premium rate or eligibility of Americans for health insurance."
The Administration is proposing that Congress pass a law to ensure that the discoveries made possible by the HGP are used to improve the health of Americans and not used by health insurers to discriminate against individuals, families or groups. The Administration recommends that the law build on the effort begun under HIPAA and encompass the NAPBC/ELSI Working Group's recommendations that seek to prevent health insurers from having access to genetic information, from being able to misuse this information, and from disclosing genetic information to others.
The bill should build on HIPAA and extend protection to insurance applicants and participants in four ways.
HIPAA does acknowledge that protections concerning access to and release of health information, including genetic information, were not provided in the law itself and directs the Department of Health and Human Services (DHHS) to develop recommendations to protect the privacy of health information. Currently, DHHS is preparing recommendations on privacy protections for all individually identifiable health information, including genetic information, as required by HIPAA. Congress may in the future enact legislation that would provide protections for personally identifiable health information in general. However, the public feels especially concerned about the unique properties of genetic information - its predictive nature, its fundamental linkage to personal identify and kinship ties, its history of abuse, and the speed of development of genetic technologies. Therefore, it is important to move forward with legislation prohibiting health insurance discrimination and restricting health insurers' use and dissemination of genetic information.
The technology of genetic testing offers great promise for better health. However, genetic tests and genetic information can also be used to deny coverage or increase premiums. The Administration strongly supports efforts to protect individuals from misuse of genetic information by health insurers, while permitting providers and others who can positively use such information to continue to use genetic information in ways that will enhance the treatment and care of individuals.
We now have the opportunity to ensure that our social policy keeps pace with the scientific advances made possible through biomedical research. The American people and the Congress support protections against genetic discrimination in health insurance. Supporting the principles put forth by the NAPBC/ELSI Working Group could ensure that increasing knowledge about ourselves and our genetic heritage is used to benefit Americans, to improve their health and well-being, and not to stigmatize or discriminate against them. This is an issue that ultimately will concern all of us. The universal principles of fairness and justice compel an urgent solution to this growing problem.
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Last Reviewed: April 12, 2011