Concern that use of personal genetic information by health insurers could create new classes of people - the insured, underinsured and uninsurable - is shared by many in research, health care, industry, and consumer advocacy organizations. Existing state and federal regulations, laws and statutes offer little to dispel these concerns. Current legislative discussions only underscore the need for strong consumer and public leadership in discussions that will ultimately determine how genetic information relates to health insurance and employment decision-making. For the Genetic Alliance, these concerns about the (mis)use of personal genetic information are the driving force behind efforts to ensure the promise and benefits of genetics.

Since its founding in 1986, the Genetic Alliance has worked to speed the translation of scientific and technological advances into quality health care and consumer-centered public policies. As the largest genetics coalition worldwide - representing more than 300 lay advocacy, researchers, health professionals, public and private sector organizations and their millions of members, the Genetic Alliance builds partnerships to promote healthier lives for everyone impacted by genetics.

The purpose of this article to outline major concerns about the implications of using genetic information in making health care coverage decisions and to call for informed dialogue and action among stakeholders to put legal protections in place. These efforts must be guided by an appreciation for the profound implications of the use of personal genetic information by insurers and insurance sponsors (employers). The central message of this article is clear and simple: We need rational and thoughtful policies, grounded on sound science and sensitive to consumer demands and insurance industry practice, that encourage the rapid pace of research and speed integration of those advances into new standards of quality health care - for ALL of us.

Genetic Information as a Unique Subset of Medical Information

While medical information constitutes the most sensitive of personal information, genetic information - as a subset of medical information - is deserving of particular protections due to its highly unique, unchanging and familial nature. The central message of this article is founded upon this understanding of genetic information as a highly sensitive subset of medical information - one requiring protections in addition to those already achieved for medical information on state and federal levels.

Consider the following important and distinctive features of genetic information:

• Predictive-Medical information tells about a person’s past or current health status, but only genetic information can identify an increased likelihood of future disease in otherwise healthy individuals.
• Permanent-Genetic information is the same from birth throughout life. A predisposition to disease based on testing an infant will hold true into adulthood.
• Identifiable-Any cell in our body can be used to identify the unique individual from whom it came.
• Familial - Our genetic make-up reveals information about family members and their genetic makeup.
• Sensitivity - The sensitivity of genetic information stems from the profound impact it can have on individuals and families in psycho-social terms.
• Prejudicial-Genetic information may be used to stigmatize someone or possibly lead to discrimination in insurance or employment. Discrimination can result from a misunder- standing of this new science as well as intentional classification of a genetic condition.
• New/Evolving-Genetics is an emerging field of scientific advancement with breakthroughs almost daily. It is no longer futuristic or science fiction -but we are also still far from knowing everything there is to know.

The Revealing and Sensitive Nature of Genetic Information

Most other medical information has some of these features, but not all. For instance, cholesterol tests may be predictive or non-genetically-based drugs may be new and experimental. But genetic information uniquely combines all of these aforementioned characteristics. This is why genetics requires special consideration separate and apart from medical information. This is why we need social policies, reinforced by state and federal legislation, that promote research, clinical translations, and quality health care.

The Public Recognizes the Unique Nature and Sensitivity of Genetic Information

Based on these considerations - the revealing nature and sensitivity of genetic information - there is documented fear among many in the lay public that their genetic records will be used by health insurers or employers in making decisions that will affect their access, or that of their families, to health care or employment.

• Studies in the early 1990’s show that concern or fear leads people to avoid genetic tests and hide genetic information from family members, employers and insurers and resist taking part in genetic research (Lapham, Kozman & Weiss, 1996).
• A 1997 survey documented people’s fears about genetic discrimination and showed that 63 percent of people would not take genetic tests if health insurers or employers could obtain the results, while 85 percent believed that employers should be prohibited from obtaining information about people’s genetic conditions, risks, and predispositions.
• According to a national survey released by the California HealthCare Foundation in 1999, 15 percent of adults say that to keep medical information confidential, they have taken steps to keep things private. Like paying out-of-pocket instead of using insurance, going from doctor to doctor to avoid having a comprehensive medical history, not seeking needed care to avoid an employer finding out, and / or giving incomplete or false information in response to history questions.
• It was documented this year that concerns about the risk of misuse of personal genetic information plays a role in the decision to participate in genetic research. This could seriously restrict promising new research and technology advances (Geer et al, 2001).

Risks of Research Pace Slowing with Declining Public Confidence

Falling public confidence in the privacy of genetic information will impact everyone. The (mis)use of genetic data in health insurance decision-making potentially threatens our ability to use genetic technologies to improve human health. Moreover, it threatens our ability to conduct the research needed to understand, treat, and someday prevent genetic diseases, disorders, and conditions which essentially impact everyone. To unravel the basis of complex genetic disorders, health problems related to aging, and pharmacogenetics, the DNA of many thousands of people must be analyzed and catalogued for each disease study. Valid research in these areas will require the participation of large numbers of volunteers, who agree to open their medical records, over the course of their lifetime, to study and documentation. If potential study participants lack confidence in the privacy of their genetic and medical information, they are less likely to take part in the research that, ironically, may help them and their families.

Social Implications of Using Genetic Information in Health Coverage Decisions

First and foremost, the Genetic Alliance affirms that it is not fair to hold people accountable for inherited genetic conditions over which they have no control. There is also concern that the insurance industry, like the public, lacks expertise in genetics and is unable to interpret genetic information with any degree of scientific rigor. Moreover, the ever-developing field of genetics does not have the kind of precise methodologies necessary for using genetic information in insurance coverage decisions.

We fear that health insurers will attempt to use genetic information to gauge the future medical costs of applicants in the individual market and that they will insure only those whose genetic futures suggest lower health care dollars and higher profits. People could be excluded by insurance company denial of coverage, as well as by de facto denial if insurers could charge rates so high as to be prohibitively expensive for many, keeping them out of the health insurance market. Unfortunately, since those without health coverage often skip preventative measures and do not seek treatment until a disease or condition has progressed, this scenario has the potential to impede public health efforts to fight illness and promote a healthy society.

There looms the risk - in all this - of creating an uninsurable underclass at great public expense. Insurance costs could shift from the private to the public sector in the form of Medicare and Medicaid if groups of people become uninsurable but with obvious public health and personal medical needs. Furthermore, if people are choosing not to have genetic tests - because of discrimination concerns - that could maintain their health or even save their lives, they could be putting themselves at serious medical risk and their families at financial risk. Employers may not hire, promote, or retain someone whose genetic information or recommended treatment might raise their bills for group health insurance. And if individuals and families are excluded from healthcare and jobs on the basis of genetic make-up, then we essentially lay the foundations for a future genetic underclass - uninsurable, unemployable - at enormous public, moral, and economic cost.

Protections Provided by Current State and Federal Laws and Regulations

So where do we stand in terms of legal protections? Do the Health Insurance Portability and Accountability Act (HIPAA), the Americans with Disabilities Act (ADA) and current state and federal protections provide adequate protection to deflate public fears? The answer is a resounding ‘No”- not yet.

HIPAA is not adequate to address these issues, concerns and gaps. For example, it does not prohibit covered entities from collecting genetic information from individuals or from requiring people to provide genetic information or undergo genetic tests. It does permit health plans and insurers to use protected health information, including genetic information, for a broad range of health care purposes, including medical underwriting. And it does not regulate employers at all. Furthermore, these employers can obtain vast amounts of medical information about employees and their dependents.

With regard to protection under the ADA, people with predictive and diagnostic genetic information will probably not fare too well, given the trend of court decisions. When the ADA was passed in 1990, Congress intended that the law would cover individuals with a broad range of diseases, such as epilepsy, diabetes, breast cancer, heart conditions and mental illness, as well as protecting those who might experience discrimination on the basis of predictive genetic information, on the grounds that such individuals would be regarded as disabled and hence covered under the law. Unfortunately, soon after the ADA went into effect in 1992, and culminating in a trio of cases by the Supreme Court in 1999, the ADA’s scope of coverage has been significantly restricted.

Some of these restrictions include:

• In many cases, individuals with a range of health conditions - cancer, epilepsy, diabetes, heart and respiratory conditions, mental illness - who have alleged discrimination based on such conditions, have been turned away at the courtroom door on the grounds that they were not sufficiently “disabled” to receive legal protection under the ADA.
• In essence, courts are requiring that, to be covered under the ADA, an individual must be so debilitated by his or her impairment that it is difficult for the person to function at all.
• Moreover, if such an individual can take medication or use a device (such as a pacemaker or glasses) that will enable the person to function, he or she will not be considered “disabled” under the ADA and will not be covered should their employer make job decisions based on the condition requiring the medication or device.

In addition, the same reasoning that has eliminated legal protection under the ADA for individuals with a range of health conditions and supported now by legal precedent, will likely be used to deny protection of individuals with genetic information or family histories regarding such conditions.

To ensure that people will not be afraid to seek treatment and receive a diagnosis, we need to assure them that, if a condition does manifest, their access to healthcare and employment will be protected. We need to clarify and strengthen the ADA at the same time as we pursue Federal protections in health insurance and employment.

Current state laws are inconsistent and insufficient - we need more consistent state legislation so people can move from state to state and insurance companies can operate more effectively. We also need Federal Protections. Because of the unique and sensitive nature of genetic information and inadequacy of present laws and regulations, health care consumers are advocating for Federal legislation that would set a floor for protection and more comprehensive and consistent protections from state to state. This would address concerns about discrimination by restricting the collection and use of genetic information by health insurers and employers sponsoring health insurance.

At this time, laws in 33 states forbid risk selection and risk classification by health insurers based on genetic information. Additionally, Arizona, Vermont and West Virginia ban genetic discrimination unless supported claim experience or actuarial justification. Texas bans the use of genetic information in non-ERISA group health plans, and Alabama prohibits discrimination based upon predisposition to cancer. Three states address the issue of genetics in health insurance by restricting access to the information rather than forbidding its use, and Michigan, Nebraska and South Dakota forbid an insurer from conditioning health coverage on the completion of a genetic test (Michigan also prohibits requirements that the insurer require an applicant to share prior genetic test results).

What is the Status of Genetics Science?

Genetic information is informative, but not definitive or deterministic. It cannot be used as a linear measurement of the current or future state of one's health. For example, a person with a positive predictive test result may never manifest the corresponding condition. Even those with positive test results will include people whose levels of expression of a genetic disorder may range from nothing to mild to severe. We cannot measure healthcare dollars or future productivity based on computations using genetic information as the yardstick. And we may never reach this point given the complex nature of genetics, the environment, health and disease.

Genetics is a New and Evolving Medical Tool

One’s actual risk depends on interactions with other genes and with the environment. Our ability to understand and use genetic information will evolve over time with longitudinal research and enormous health databases that follow participants over their lifetime. These studies will trace the interplay between genes (and gene products) and the environment. We hope that research results will help explain the tremendous variability in the actual expression or incidence of the condition. But right now this is a new and evolving science. We just do not yet know the exact level of risk or degree of severity indicated by the test results. It is premature and naïve to assume that we see the whole picture. Since we are talking about tremendous levels of complexity, we have to consider how much we do not now know and may never know.

Genetic Information is Informative but not Definitive

We do know that genetic information does not translate with any accuracy into healthcare dollars for any one particular person or condition. In fact, a major problem in the clinical integration of genomics is the lack of evidence-based outcomes in research, which could convince health care professionals to take up these new medical tools.

It is possible that through the development of preventative treatments that forestall the occurrence of an expensive chronic conditions, health dollars could be significantly saved. We just do not know the full picture yet. In the case of hemochromatosis, for example, early identification could lead to phlebotomy treatments that stop the development of an otherwise insidious, chronic, expensive and possibly fatal condition.

High Potential for (Mis)Use of Genetic Information

We do know that genetic testing technologies and understandings are still evolving, that our knowledge is partial and often speculative, and that we need years of research to understand underlying interactions between genes and the environment. We do not even have sufficient scientific measures of clinical utility to convince health care systems to integrate genetic tests and technologies into standard practice; how then can genetic information be used to set premiums when it is not deemed precise enough yet to offer to families and children?

But right now, current genetic test results and diagnoses reflect scientists’ best guesses. But this is not good enough if the results can be used to deny health coverage and employment and disrupt productive lives.

Recent Cases Underscore the Potential for Misuse

Recent cases have received national media attention and this has reinforced widespread concern about the potential risks of intentional or even unintentional abuse of genetic information.

In another recent example of the misuse of genetic technologies, employees of Burlington Northern Santa Fe Railroad were subjected to genetic testing after they registered work-related carpal tunnel syndrome injuries (inflammation of a nerve in the wrist which results from years of repetitive movement typical of railroad work). Burlington Northern ran DNA tests on 35 different employees to screen for certain genetic disorders, including Hereditary Peripheral Neuropathy - a test for hereditary, not repetitive motion, carpal tunnel syndrome. The two unions representing workers alleged that the company coerced employees into providing blood samples that would be used for genetic screening with no prior knowledge or informed consent. When Burlington Northern union employee Gary Avary refused to cooperate with the genetic tests, he received a hostile and threatening letter from the company. The unions sought support from the Equal Employment Opportunity Commission (EEOC) who filed a landmark genetic-testing anti-discrimination lawsuit against Burlington Northern Santa Fe Railroad in February 2001. Officials at Burlington Northern settled the lawsuit in April agreeing to stop the secret genetic testing of their employees. They also agreed to destroy blood samples from workers who were tested and delete the results from their records. The railroad did not pay punitive damages, but did agree to pay for the unions’ legal fees. "This was about power and drawing lines in the sand, and whether employers secretly, or by coercion, can force employees to divulge their genetic secrets," said Harry Zanville, lead counsel for Brotherhood of Maintenance of Way. In a most fulfilling turn of events, the railroad also agreed to assist in promoting passage of federal legislation to prevent genetic testing by employers in the future.

Urgency of Public Education and Awareness

Public education about these issues is critical - and that includes educating the insurance industry as genetics research, technology and clinical usefulness evolves. It will also be important for the public to understand underwriting practices and state insurance regulatory systems so we can work to develop social policies within the current context of science, insurance regulation, health care, and politics.

To allay public concerns about genetics and support research participation and clinical translation, it is important that the use and relevance of genetic information, especially in connection with insurance and employment, be fully understood and that it be made accessible to the entire nation.

Challenge of Keeping Policies and Insurance Practices Current with this Evolving Science

As genomics advances, public policies and insurance practices must be kept current with this rapidly evolving science. This means careful and continuous review of the scientific literature to inform the practice of accurate and fair underwriting. Genetic test results, family histories and other forms of information and diagnosis can and should be used to shed light on an individual's health and risk factors and, wherever feasible, to point the way to new and better treatments that can alleviate suffering and promote personal and public health. Right now, however, the scientific dimension is galloping ahead of our ability to understand the deeper implications of genetics for risk selection and determination or to predict the impact of genomics on the solvency of the insurance industry.

The Genetic Alliance strongly recommends that the use of personal genetic information in insurance decision-making must be rationally based, supported by sound science and comprehensive clinical utility data, and grounded in responsible, informed social policy.

Above all, these issues require the best wisdom of public policy leaders representing a broad spectrum of viewpoints and stakeholder interests. The evolving field of genetics and genetic research brings together such diverse interests - scientific, political, social, medical, personal - in an unprecedented manner. We need to come to terms with all of these issues - the uniquely sensitive place that genetics occupies in science and medicine, the huge potential and far-ranging implications for people now and in future generations, the lack of preparedness of health care professionals and insurers, and the public’s voice on the subject of confidentiality. To connect policymakers, industry, employers and individuals in pursuit of meaningful policies will require a thoughtful and scientifically sound approach that benefits the interests of both consumers and the organizations that serve them. This kind of constructive dialogue and networking begins with education and access to good information - for ALL of us.