Biotechnology in Our Lives: What Modern Genetics Can Tell You about Assisted Reproduction, Human Behavior, and Personalized Medicine, and Much More

INTRODUCTION

Thirty years ago a group of scientists, public and occupational health advocates, disability rights activists, environmentalists, and union leaders formed the Council for Responsible Genetics, an independent nonprofit organization that has thus far taken no funding from government or corporations. Today, the CRG remains the only biotech public interest organization that is explicitly dedicated to examining the best science, interpreting the results, assessing the implications, communicating them to a general audience, and facilitating meaningful, measurable change in the field of biotechnology.

Among the first projects undertaken by the CRG was the publication of GeneWatch, a magazine that provided timely information and commentary on social and ethical implications of advances in genetics and their applications to biotechnology. The CRG was the first public interest organization to bring the social issues raised by genetic technology to a broad public readership before the appearance of the Internet.

As biotechnology grew into a multi-billion-dollar financial sector, genetic technology began to enter almost every area of human life: from the genetically modified foods that we eat to the biodiversity of our ecosystem, from human health and reproductive technologies to the operation of the criminal justice system. From its inception, GeneWatch has filled the critical role of analyzing the rush of information and opinion resulting from the rapid growth in genetic research and technology. GeneWatch expanded from laboratory and occupational safety to biological weapons, human genetic engineering, cloning, reproductive technologies, genetically modified crops, and genetic privacy and discrimination. Contributors to GeneWatch had a gift for communicating complex science to popular audiences while situating the science in a social context.

Apart from GeneWatch, the CRG has also contributed to public discussion by framing issues in biotechnology from a social justice perspective. It has issued policy statements and published books such as Preventing a Biological Arms Race, Changing the Nature of Nature, Rights and Liberties in the Biotech Age, Genetic Explanations: Sense and Nonsense and Race and the Genetic Revolution. The CRG has also worked with other organizations for the passage of national legislation that has resulted in turning the international treaty banning biological weapons into domestic law and in passing the Genetic Information Nondiscrimination Act. The CRG has held workshops, organized conferences, and published many articles covering agricultural biotechnology. It has raised public understanding about the patenting of seeds, herbicide resistant crops, genetically modified food, bovine growth hormone, and biodiversity. The CRG staff and board members regularly assist policy makers and have testified before Congress, federal agencies, regulatory bodies, and state legislatures.

CRG issued the Genetic Bill of Rights, which consisted of ten principles for a humane biotechnology. Among the principles was a call for a ban on human genetic engineering, a consumer right to purchase food unaltered by foreign genes, and a right to be protected from genetic discrimination in all forms of civil society. As the preamble to the Genetic Bill of Rights states, People everywhere have the right to participate in evaluating the social and biological implications of the genetic revolution and in democratically guiding its applications.

For this book, the editors of GeneWatch have selected the best essays published over its thirty-year run. Among the contributors are leading scientists and social activists who demystify the science while giving readers insight into how genetic technologies affect their lives. Readers will find essays that cover a variety of subjects, like assisted reproduction, the potential for error and discrimination in DNA testing, how biotechnology has been portrayed in science fiction, personalized genetic medicine, how genetics can affect human behavior, and much more. The distinguished contributors include scientists, consumer advocates, women’s rights activists, and law professors. The book takes us from where modern genetic technology began, where it is today, and where it might be headed. For this volume we have selected articles from six categories of biotechnology: Genetic Privacy and Discrimination, Assisted Reproductive Technologies, Forensic DNA, Behavioral Genetics, Genetics and Popular Culture, and Genetics in Medicine. The articles not only provide a historical view of the public discourse in biotechnology over three decades but also highlight enduring moral questions faced by modern society. The essays emphasize the authors’ commitment to the social control of technology, to the critique of genetic reductionism and the view that our genes are our destiny, and to democratic participation in technological choices.

The eminent Columbia University sociologist of science, Robert Merton, spoke about organized skepticism as a core value in science. Scientists must question results until they are convinced they have rooted out error and bias. A second level of skepticism must be adopted by the citizenry: namely skepticism that every new technology should be embraced as an advancement of the human condition. That result must be demonstrated to an informed citizenry and should not be accepted by default.

We are indebted to the many authors who have contributed essays to GeneWatch over the years. They received no financial compensation for their writing but rather offered their work as a contribution to public education. We also wish to acknowledge the founding members of the Council for Responsible Genetics who, through a collective vision, recognized the importance of a scientifically literate society.

Sheldon Krimsky and Jeremy Gruber

November 2012

PART I

Genetic Privacy and Discrimination: Can Your Genes Keep You from Getting Insurance?

Artist: Peter Baril

The concept of genetic discrimination only recently entered our vocabulary. But the problem is well documented. In hundreds of cases, individuals and family members have been barred from employment or lost their health and life insurance based on an apparent or perceived genetic abnormality. Many of those who have suffered discrimination are clinically healthy and exhibit none of the symptoms of a genetic disorder. Often, genetic tests deliver uncertain probabilities rather than clear-cut predictions of disease. Even in the most definitive genetic conditions, which are few in number, there remains a wide variability in the timing of onset and severity of clinical symptoms. Yet discrimination continues. The Burlington Northern Santa Fe Railroad Company, for example, was revealed to be conducting genetic tests on its employees without their informed consent, as a means of counteracting workers compensation claims for job-related stress injuries.

On May 21, 2008, President George W. Bush signed the Genetic Information Nondiscrimination Act (GINA) into law. Senator Ted Kennedy hailed GINA as the first civil rights bill of the new century. GINA provides strong new protections against access to genetic information and genetic discrimination in both the health insurance and employment settings.

But GINA does not address all possible forms of genetic discrimination. For example, it does not address life insurance, disability insurance, or longterm care insurance. GINA does not protect symptomatic individuals as well. In other words, any observable symptoms of a disease that has clear genetic origins can be used to discriminate against an individual under the law. GINA is a strong and essential first step in the fight against genetic discrimination and misuse of medical information more generally, but it is far from the battle.

Ten years after the mapping of the human genome was completed, the genetic revolution has led to a tsunami of DNA data created by genetics research and the commercialization of such research. As more and more of this personal information becomes public knowledge, it can be bought and sold by any company interested in predictive information about an individual’s future health status. A recent survey by Cogent Research found that 71 percent of Americans continue to be concerned about access to and use of their personal genetic information.

There simply is no comprehensive genetic privacy law in the United States or any other country. And so the access to and misuse of personal genetic information continues.

From health insurance companies to employers, from student testing to direct-to-consumer genetics and biobank administration, these chapters explore those concerns.

New Genetic Privacy Concerns

BY PATRICIA A. ROCHE AND GEORGE J. ANNAS

Patricia A. Roche and George J. Annas are professors in the Department of Health Law, Bioethics and Human Rights at Boston University School of Public Health. This article, first published in GeneWatch, volume 20, number 1, January-February 2007, is adapted from the authors’ DNA Testing, Banking and Genetic Privacy, which appeared in The New England Journal of Medicine 2006; 355:545-6. George Annas is a former member of the Board of the Council for Responsible Genetics.

Everyone wants a piece of us, specifically a DNA sample. Private marketers assure us that our DNA will unlock useful secrets that can make our lives better by helping to determine what food we should eat, what drugs we should take, and even whether or with whom we should have children. We are encouraged to have our DNA decoded to discover our ancestry, and even mass marketed magazines, like National Geographic, encourage readers to submit their DNA samples for analysis to determine where we come from. Federal and state officials discuss a national, or even international, DNA databank that can be used to hunt for criminals and sometimes also to help exonerate criminal suspects. The promises of DNA testing seem endless to both individuals and society. But DNA testing has a dark side as well. As the source of genetic information, the DNA molecule is also a separate entity that can be collected and stored for multiple, currently unknown (or at least unconsented to) uses. Since multiple copies can readily be made, once an individual’s sample is obtained, no further contact with the person is required to procure additional material for testing. Should this be of concern to us, or do existing federal and state laws adequately protect our genetic privacy?

In May 2006, the Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) issued a draft report on a proposed national biobank at the National Institutes of Health (NIH).¹ Similar to biobanks in other countries, such as the U.K., Estonia, and Canada, this repository would contain tissue samples and health information from 500,000 to 1,000,000 individuals to be utilized for studying the gene-environment interactions underlying common, complex diseases. During the preparation of its final report, SACGHS asked for public comments on several issues, including the privacy implications of biobanking and ownership of samples and data. How public input will affect the federal government’s decisions regarding a national biobank remains to be seen. Federal officials seem to want to exercise caution before collecting DNA from a significant part of the population and appear committed to protecting the interests of Americans who contribute samples and information for use in research. It would be a mistake, however, for the public to think that a future national biobank presents the principal risk to their genetic privacy or that the federal government has taken, or will take, sufficient action to protect their interests in regard to DNA banking. The fact is that DNA samples are currently routinely collected and used in multiple arenas with little legal restraint or regulatory oversight at the federal level. In this article we focus on developments in DNA banking in relation to genetic research and the expansion of commercial testing services to illustrate why current laws are inadequate to protect individual interests affected by DNA banking.

Banking Practices in Genetic Research

Throughout the 1990s, those most actively involved with collecting DNA samples from individuals (other than law enforcement officials and the U.S. military) were researchers intent on discovering genetic markers, primarily associated with relatively rare diseases. Typically, researchers collected DNA samples and information from families at risk for the disease of interest and analyzed the samples in an effort to understand the heritability of the disease. In the event that their endeavors proved successful and a disease marker was identified, additional research using the same samples would inevitably follow. Therefore, it became customary for researchers to seek consent when samples were collected to store DNA beyond the completion of initial research for use in subsequent studies of the same disease. As knowledge about the human genome advanced and attention became focused on exploring the role of genetics in more common diseases, research studies were structured in keeping with that broader goal. Consequently, researchers sought samples from a larger segment of the general population, anticipating that they would be useful in a variety of studies. The exploratory nature of this research made it difficult to describe any specific details about the focus of secondary studies and exactly how samples would be used in the future. Consequently, consent documents relating to the initial sample collection customarily stated that, by consenting to participate in research, subjects acknowledged that samples they provided would become the property of the researcher (or the institution where the research took place), who could use the samples for their own benefit. In this way, individuals who relinquished their samples were transformed from research subjects into donors and the consent-for-research forms morphed into documents effectuating gifts. To appreciate the significance of this phenomenon it is important to consider the nature of DNA samples, principles traditionally applied to research and the court’s ruling in the case of The Washington University v. Catalona.²

The DNA sample can be viewed as a future diary, or even a coded probabilistic medical record.³ Possession of an identifiable DNA sample gives the possessor access to a wealth of information about the individual as well as his or her genetic relatives. This includes information that has been made derivable due to advances in genetics that occur after the sample has been relinquished. It is therefore unlikely that a person can be cognizant of, or fully appreciate, the informational value of his or her DNA sample at the point in time that it is relinquished to others. It also means that, as long as personally identifiable samples are stored, there is the possibility that those with access to the samples will discover things about individuals that the individuals themselves do not know, and, most importantly, would not want others to know about them. In other words, unless those with access to samples refrain from using samples for any unauthorized purposes and destroy samples as soon as authorized uses have been completed or upon request of the sample’s source, invasions of genetic privacy are inevitable.

The most basic principle of research with human subjects is that participation must be voluntary and the subject free to withdraw at any time. Researchers are therefore legally and ethically obligated to abide by requests from subjects to withdraw their tissue samples from research. However, this may no longer be the case, at least according to one lower federal court judge. In 2003, patients who had previously provided tissue samples for prostate cancer research conducted by Dr. William Catalona at Washington University wrote to the University requesting that their samples be removed from the University’s tissue bank and released to Dr. Catalona, who had moved to Northwestern University.⁴ In response, Washington University brought legal action seeking a determination that it owned the samples and was not obligated to comply with the subjects’ instructions. In ruling in favor of the University, the judge relied on the act of handing samples over to researchers as evidence that a gift had been made under Missouri law.

It was determined that ownership of the samples had been transferred to the University, and the judge was dismissive of provisions in the relevant consent forms. In keeping with established research rules, the forms included statements about the voluntary nature of participation and procedures for termination of participation. In regard to those provisions, the judge stated that "the right to discontinue participation in a research project means nothing more than that the [research participant] has chosen not to provide any more biological materials pursuant to one or more research protocols; i.e., not to make any more inter vivos gifts of donated biological materials to [Washington University]."⁵ Since this was a ruling in federal district court, the case has little legal precedent and it may very well be that other courts faced with similar claims may not adopt the flawed reasoning of this court. Nevertheless, it presents a cautionary lesson to all individuals who have provided samples for genetic research under similar circumstances: if you relinquished a DNA sample to be banked for research, you may very well have made a gift under the law of your state and thereby lost control over your sample.

There is nothing in the Catalona case to indicate that the outcome would have been any different if the patients had given their samples to a repository operated by a for-profit corporation rather than a private academic research institution. So the thousands of individuals who have contributed samples to entities like the Ardais Corporation or DNA Sciences, which obtain samples either from patients at medical centers or through appeals over the Internet for the express purpose of selling them to researchers, should also be concerned about what may happen to their DNA samples (and thus their genetic information) as a result of this case.

Those who have contributed samples for research might take some comfort from the fact that ownership of a DNA sample by a researcher does not necessarily relieve the researcher of his or her obligations (at least under the federal regulations governing research) to maintain confidentiality and protect the privacy of subjects. Thus, federal law may yet provide some protection against unauthorized disclosures of private genetic information by researchers. Nevertheless, those disclosure rules would not put limits on what information the owner could derive from the sample. In that sense, invasions of genetic privacy are very likely to result from donation of samples. This is important because one of the basic reasons for protecting genetic privacy is to guard against secret genetic testing that would result in someone else knowing more about an individual’s genetic status than that individual knows her or himself, or would choose to have others know.

Commercial Testing and DNA Banking

Direct-to-consumer marketing of genetic tests, and the collection of samples in relation to such testing, presents additional opportunities for invasions of genetic privacy. In this context federal laws that might restrict misuse of samples by researchers are of course irrelevant and no federal law addresses genetic privacy in other contexts. Consequently, individuals who send samples directly to laboratories for testing must look to state laws for rules governing the collection and uses of DNA samples. By 2000, a majority of states had enacted laws regulating genetic testing and fair uses of genetic information. These statutes are almost exclusively antidiscrimination laws that govern the behavior of insurers, employers or both. The provisions in these laws primarily address what happens to information after samples have been collected and analyzed, but a few states, such as New Jersey, include broader privacy protections by prohibiting unconsented-to collection and testing of samples generally and by defining requirements for consent to testing. Only about half a dozen states require explicit consent for sample storage, or require the destruction of samples after the purpose of their collection has been achieved.

Thus, laws that address DNA collection and banking activities do not generally apply to companies that sell genetic testing services directly to consumers. Such testing is a growth industry and includes tests for genetic diseases and susceptibilities as well as tests for non-medical purposes such as genealogical research and for marketing nutritional supplements and skin-care products to the public.

Without adequate protections for genetic privacy, individuals will not be free to discover and use genetic information for their own benefit and purposes. Laws that regulate uses of genetic information after the fact are necessary but not sufficient to achieve that goal. DNA collection, banking and analyses are expanding rapidly within the world of biomedical research and beyond. But in the absence of a comprehensive federal law addressing genetic privacy, those who want to explore their genetic information may hesitate to do so, and those who do relinquish their DNA, assuming that they have control over its uses, may discover that they have given it all away. Until comprehensive laws governing DNA banking are enacted, the best that individuals can do to protect themselves is to only utilize testing services that guarantee to destroy the DNA sample on completion of the specified test.

Position Statement on Genetic Discrimination

BY THE HUMAN GENETICS COMMITTEE OF THE COUNCIL FOR RESPONSIBLE GENETICS

This article was published in GeneWatch, volume 6, number 6, in 1988. The Human Genetics Committee at that time was made up of the following members, whose affiliations are listed from the original date of publication: Ruth Hubbard, Professor of Biology, Harvard University; Philip Bereano, Professor of Engineering and Public Policy, University of Washington; Paul Billings, Director of the Clinic for Inherited Diseases, New England Deaconess Hospital; Colin Gracey, Head of the Religious Life Office, Northeastern University; Mary Sue Henifin, Deputy Attorney General, State of New Jersey; Sheldon Krimsky, Associate Professor of Urban and Environmental Policy, Tufts University; Richard Lewontin, Alexander Agassiz Professor of Zoology, Harvard University; Karen Messing, Professor of Biology, Université du Québec à Montréal; Stuart Newman, Professor of Cell Biology and Anatomy, New York Medical College; Judy Norsigian, Co-Director, Boston Women’s Health Book Collective; Marsha Saxton, Director, Project on Women and Disability; Nachama L. Wilker, Executive Director, Council for Responsible Genetics.

During the past decade there has been a dramatic expansion in the number and range of genetic tests designed to predict future health. Whereas ten years ago tests were only available for a few inherited conditions, now tests exist to diagnose cystic fibrosis, Huntington’s disease, and several other genebased diseases. Physicians are even projecting that they may be able to diagnose genetic predispositions for complex conditions such as cancer, cardiovascular disease and mental disorders.

As tests become simpler to administer and their use expands, a growing number of individuals will be labeled on the basis of predictive genetic information. This kind of information, whether or not it is eventually proved correct, will encourage some sectors of our society to classify individuals on the basis of their genetic status and to discriminate among them based on perceptions of long-term health risks and predictions about future abilities and disabilities. The use of predictive genetic diagnoses creates a new category of individuals—the healthy ill—who are not ill now but have reason to expect they may develop a specific disease sometime in the future.

While the new diagnostics will provide identification of genetic factors that may be responsible for evoking certain diseases or disabilities, it is not at all obvious how rapidly and to what extent this information will lead to treatments or cures for the diseases in question. Diagnoses unaccompanied by cures are of questionable value. This is especially true when the diagnosis can be made long before the person in question begins to notice any symptoms of disability or disease, as is often the case. Many genetic tests predict—often with limited accuracy—that a disease may become manifest at an undetermined time in the future. And although the severity of many genetic diseases varies widely among those individuals who develop the disease, the diagnoses usually cannot predict how disabling a specific person’s disease will be. To this extent, the situation is similiar to the experience of people diagnosed to be infected with the human immunodeficiency virus (HIV), who know that they will probably develop one or more AIDS-associated diseases, but not when or which ones.

This kind of predictive medicine raises novel problems for affected individuals and they, together with their physicians and counselors, will have to learn how to approach them. Meanwhile the exaggerated emphasis on genetic diagnoses is not without its dangers because it draws attention away from the social measures that are needed in order to ameliorate most diseases, including equitable access to health care. Once socially stigmatized behaviors, such as alcoholism or other forms of addiction or mental illness, become included under the umbrella of genetic diseases, economic and social resources are likely to be diverted into finding biomedical cures while social measures will be short-changed.

Individuals labeled as a result of predictive genetic tests face the threat of genetic discrimination. They and their families are already experiencing discrimination in life and health insurance and employment because genetic information is being generated much more quickly than our legal and social service systems can respond. As our abilities to label individuals on the basis of genetic information increase, particularly through the efforts of the Human Genome Initiative,¹ there will be an even more urgent need to address these problems.

Employment Discrimination

The tragedies of race and sex discrimination illustrate the dangers of basing employment decisions on inborn characteristics. Like these, discrimination on the basis of genetics ignores the present abilities and health status of workers and substitutes questionable stereotypes about future performance.

Basing employment decisions on genetic status opens the door to unfounded generalizations about employee performance and increases acceptance of the notion that employers need to exercise such discrimination in order to lower labor costs. Indeed, without countervailing equitable forces, employers face economic pressures to identify workers who are likely to remain healthy. Less absenteeism, reduced life and health insurance costs, and longer returns on investments in employee training all reduce the costs of labor. To the extent that employers believe that genetic information can help identify workers who have a healthy constitution, they have strong economic incentives to screen applicants and workers.

Employer discrimination on the basis of antibodies to HIV and of previous cancer history, despite current ability to work, demonstrates that employers take health status into account when making employment decisions to the detriment of individuals labeled as being at increased risk of ill health in the future.² Even more revealing is the history of discrimination on the basis of perceived genetic hypersusceptibility to occupational diseases.³For example, African Americans who are healthy but have what is called sickle cell trait have been denied certain jobs despite the absence of scientific proof that any genetic characteristics are predictive of industrial diseases.⁴

Such policies victimize all workers. In the case of sickle cell trait, African Americans have been protected out of jobs involving exposures to certain industrial chemicals, while remaining workers continue to be at risk from these chemicals. Discrimination against individuals with particular genetic characteristics harms all workers by diverting attention from the need to improve and, if possible, eliminate workplace and environmental conditions that contribute to ill health for everyone. Moreover, such genetic discrimination masks the fundamental need for adequate leave policies and insurance coverage as well as for reasonable workplace accommodations for all workers who experience temporary or permanent disabilities, for whatever reasons.

Basing employment decisions on genetic status may run afoul of the patchwork of state and federal laws that protect the employment rights of individuals with disabilities. To date, federal laws only cover workplaces receiving federal funds.⁵ No state or federal court has ever determined whether such laws apply to the employment rights of individuals discriminated against because of their genetic status. Although a bill is pending in Congress that would provide comprehensive protection to workers who are disabled, there is disagreement among legislative experts over whether this bill would prohibit genetic discrimination.⁶

Screening individuals for genetic risk of late-onset diseases raises particularly difficult problems because such individuals may not be considered disabled at the time they are discriminated against and therefore may not be afforded protection under present or proposed federal and state laws protecting the rights of disabled individuals.⁷ Ironically, someone who is stigmatized for being at risk for future genetic illness may, due to his or her asymptomatic status, fall outside the protection of laws prohibiting discrimination on the basis of disability. A clearly worded federal law is needed to prohibit discrimination on the basis of such information and to protect the privacy of genetic information.

The need for laws to protect the privacy of genetic information can be illustrated by the secrecy with which employers may use medical information. There are few limits, for example, on employer discretion in deciding what preemployment medical tests to perform on job applicants. Thus, once a sample of blood is taken from an applicant during the pre-employment physical, it can be tested for many conditions, including pregnancy, sickle cell trait, HIV antibodies, cholesterol, or drugs. Since employers do not have to give a reason for refusing to hire an applicant, many individuals never realize that they have been denied employment because of their medical status. Although it might be possible to challenge an employer’s hiring policies that discriminate on the basis of medical status, it is very difficult to document such discriminatory practices.

Insurance Discrimination

Insurers also face strong economic incentives to identify individuals perceived to be at increased risk for ill health in the future. Historically, such inherent characteristics as race and sex were used to deny African Americans and women insurance coverage.⁸ Some insurance companies did not end the practice of using explicit racial classifications in setting rates and benefits until the early 1960s. And, in the early 1970s, healthy African Americans who were identified as having sickle cell trait once again experienced insurance discrimination, when some insurance companies charged them higher rates, despite the lack of evidence that such individuals were at greater risk than usual of ill health or shortened life span.

Life and health insurance companies are regulated by the states, and a patchwork of laws governs how rates are set and what types of discrimination are permissible. For example, Maryland and New Jersey, which limit unjustified discrimination, may permit discrimination on the basis of genetic status if increased actuarial risk of disease or decreased life span can be demonstrated.⁹ Insurance companies argue that they have the right to make appropriate business and financial decisions based on their objective statistical determination of group risk. However, it is not equitable to stigmatize individuals on the basis of group risk, nor is it sound public health policy to deny life and health insurance generically to individuals with risk factors.

Without legislation mandating that all insurers cover populations at risk without discrimination, those who do provide comprehensive coverage are at a financial disadvantage. Insurance companies have successfully staved off legislative interference with their decisions to deny coverage based on actuarial risk and there is every reason to believe that they would lobby aggressively against laws that would prohibit genetic discrimination. The actions of the insurance industry regarding HIV antibody status are revealing. For example, states that have tried to regulate against discrimination on the basis of antibodies to HIV have met vigorous legal challenges by insurance companies, and several such state regulations have been invalidated by the courts.

In their survey of discrimination as a consequence of genetic screening, Paul R. Billings, Mel A. Kohn, Margaret de Cuevas and Jonathan Beckwith of Harvard Medical School illustrate how data banking of genetic information can lead to future abuses not only against at-risk individuals, but also against their relatives.¹⁰ Already companies that manage medical information for insurers track individuals identified as having specific genetic conditions so that such people may be denied insurance whether or not they reveal the relevant genetic information on their applications. In addition, government agencies have the capacity to retain records of DNA fingerprints on individuals who have been charged with committing violent crimes.¹¹

Data banking increases the risk that genetic information will be used in ways that violate individual privacy and encourage irresponsible genetic epidemiology. To examine the full impact of genetic data banking we need to answer three questions: 1) What information is stored, 2) who has access to the information, and 3) how can such information be used?

An individual’s right to refuse genetic screening is eroded when employers and insurers require such information as a precondition for employment or for life or health insurance. Even more chilling are instances where insurers have attempted to manipulate individual decisions about childbearing. Insurers have pressured potential parents to be screened or to have their fetuses screened, and then have tried to manipulate their procreative decisions by threatening to withdraw benefits to those who choose to give birth to children at risk of genetic disabilities.

Proposed Actions

The dangers of genetic discrimination may be lessened if advocacy groups and the relevant public and private agencies take the following actions:

• Develop fact sheets that describe what is known about genetic screening and why genetic status does not necessarily identify an individual’s health or abilities. The fact sheets should be written by health and disability rights advocates and geneticists. They should encourage discussion of the dangers of stigmatizing individuals on the basis of future risks of ill health or disability.

• Offer short courses on the uses and abuses of genetic screening to the general public and to journalists, health care professionals, teachers, labor unions, and scientists by public interest groups, educational institutions, cable television, and other media.

• Draft model laws that can be proposed at local, regional, and, where appropriate, state and federal levels. These laws would prohibit discrimination in education, employment, insurance, housing, public accommodations, and other areas, based on present or predicted medical status or hereditary traits.

• Design proposals to end disability discrimination in all its forms, including proposals that will afford access and participation in all aspects of public life by individuals who are disabled. Coalitions should be encouraged between groups concerned with civil liberties, disability rights, women’s rights, procreative rights, occupational health and safety, workers’ rights, and the right to health care.

• Propose absolute and legally binding guarantees of confidentiality to protect information obtained from genetic screening. The information should not be released to anyone without the informed consent of the screened person or her/his legal guardian.

• Advocate nonbiased counseling about the option to refuse tests and about the benefits and risks of doing so to every individual offered genetic testing. Appropriate consent and refusal forms must explicitly state that refusal to undergo genetic testing will not lead to termination of medical care or insurance, denial of services, or to other discriminatory practices.

When Science Fiction Became Fact

BY SAMUEL W. ANDERSON

Sam Anderson is the editor of GeneWatch. This article originally appeared in GeneWatch, volume 22, number 2, April-May 2009.

In the summer of 2000, Burlington Northern Santa Fe Railroad Corp. was dealing with two train derailments in central Nebraska. Workers went out to make track repairs, equipped with recently adopted hydraulic wrenches. The new tools were faster than their manual predecessors but harder on workers’ wrists: over a hundred Burlington Northern employees filed reports that year that their work had caused carpal tunnel syndrome. Gary Avary was one of the workers who repaired the Nebraska tracks, and in September he was diagnosed with carpal tunnel. The railroad authorized surgery, and by the end of October, Gary had recovered from the operation and returned to work with full use of his hands—but his ordeal was just beginning.

In December the company sent Gary a letter instructing him to travel to Lincoln for a mandatory medical exam. Gary and his wife, Janice, found this strange, since Gary’s carpal tunnel had already been successfully treated. Stranger yet, a co-worker returning from the same exam reported that the doctor had taken seven vials of blood. This raised a red flag for Janice, a registered nurse, and she called the company’s medical liaison to see why so much bloodwork was necessary.

She gave me a list, Janice says, just standard lab tests, and I said, ‘I’m in the medical field, and those do not require that many tubes of blood.’ I got her flustered because I knew what I was talking about—and she just let it slip accidentally that they were going to do a genetic test.

When Janice protested that those tests could not be conducted without Gary’s knowledge and consent, she was told that refusal would be considered insubordination and could result in dismissal.

The Avarys went on to fight Burlington Northern’s practices and to testify on Capitol Hill to advocate for genetic nondiscrimination legislation. In 2001, Burlington Northern settled with the Equal Employment Opportunity Commission (EEOC), prohibiting the railroad company from carrying out further genetic testing. A settlement with the railroad workers’ union required the company to destroy the blood samples it had acquired from at least 20 employees along with the records of the tests carried out on that blood. Burlington Northern also pledged to support a federal genetic nondiscrimination bill. Those results were hardly crippling for the company, but for their part, the Avarys were most interested in pushing for the legislation which would later become the Genetic Information Nondiscrimination Act. Finally, seven years later, GINA was signed into law.

Everything’s changed, Gary says. I do feel that we made a difference— not just Janice and me, a lot of us.

Janice agrees, even if Burlington Northern got off easy in the lawsuits. It was kind of bad the way it ended, but for me, we got the genetic testing stopped, the railroad was publicly humiliated for what they did, and as you can see, we’re still talking about it eight years later.

The gene for carpal tunnel

Why would a company go to lengths to undertake secret genetic testing of its employees? Burlington Northern insisted that the DNA test results were never intended to factor into hiring and firing decisions. According to company statements, the tests focused on determining whether or not employees carried the genetic marker for carpal tunnel syndrome. If so, the company might be able to shed responsibility for employees’ carpal tunnel complaints—and avoid paying workers compensation.

The first problem? Dr. Phillip Chance, the scientist who discovered the gene the railroad was testing for, pointed out that the genetic marker in question has little use as a predictor of carpal tunnel injuries. In fact, the gene is not linked to carpal tunnel specifically, but rather to a rare neuromuscular condition for which carpal tunnel is one of several symptoms. The railroad’s medical department was either oblivious to this or perhaps simply disagreed. Either way, the brains behind the secret genetic tests seemed to believe they were doing something exciting—and something ethical.

When Gary went for the initial interview with the carpal tunnel doctor, the doctor started talking about genetic implications for carpal tunnel disease, Janice says. Now this is what that man does for a living, carpal tunnel surgery—and he was going on and on and on with Gary about how he was trying to get involved in different protocols to prove genetic backgrounds for carpal tunnel disease.

Once the case was under way, Gary met personally with the chief medical examiner behind the railroad’s testing protocol. I looked him right in the eye and said, I understand what you were doing, Dr. Michaels, and you can run it in front of medical people and they wouldn’t see any problem with what you were doing, with the legalities—that you have the right to ask a mandatory medical exam any time you see fit. But anyone else would say, ‘You’re doing what? And you’re not telling these people what you’re doing?’ And he couldn’t really give me a good answer there. He just thought, in his own mind, I think, that he was doing everything right. They’d been to these conferences on genetics, and they were bent on looking for that marker [for carpal tunnel].

Considering the cost of putting together a system for secretly testing employees—and considering that none of the at least 20 employees tested were found to have the marker in question—it would hardly seem an economical program. Indeed, Janice says the company had bigger plans for the DNA testing scheme it referred to as a pilot program.

They were in the process of designing a protocol to eliminate corporations from having to be responsible for any injury on the job. If they had been able to prove that back injuries, heart injuries, carpal tunnel, and other things along that line had a genetic background to them, they no longer would have to take responsibility for those payments. Then, had they been able to prove this, they would have been able to patent the protocol and sell it to other large companies.

Keeping the secret

The entire system knew that there was this network of deceit out there, Janice says. All of the people that had gone to this testing because it was mandatory had no idea that a genetic test was going to be included in the bloodwork. They were actually doing genetic testing without people’s consent or knowledge.

Behind the scenes, railroad officials monitored a detailed DNA testing program.

The day I didn’t go to the mandatory exam, the chief medical examiner called me and said, ‘Sir, I see you didn’t make your appointment. Why is that?’ Gary says. And I thought to myself, how would you know so quickly, and why would you need to know so quickly? Well, it turns out they had couriers there to take the blood immediately to the lab. The doctors were just there to draw the blood, and couriers were there to pick up my blood after they drew it.

Knowledge of the program extended throughout Burlington Northern’s offices. Janice says that the medical liaison she first spoke with "knew exactly what was going on. She knew there was genetic testing going on, she knew exactly which doctor employees were to be referred to for the testing, and the doctor they had set up to do the testing in Lincoln knew exactly what was going on.

You get sent to a doctor in Lincoln who’s doing the testing, who knows full well you’re going to be genetically tested; the medical liaison knew there was a protocol; but none of the employees knew. No one had ever notified the employees. If the Avarys sound cynical about the company’s attitude, it’s for good reason. During the lawsuit, the EEOC discovered documents sent between employees in Burlington Northern’s offices revealing their knowledge of the testing program, even referring to it as the guinea pig trail.

Burlington Northern’s employee handbook—which was over 500 pages long— included a rule allowing the company to require mandatory medical testing, but no obligation for the company to reveal the results of those exams to employees. That’s what they were banking on, Janice says. There was no legal recourse—they were going by that one rule in the employee handbook.

By refusing to submit to DNA tests, Gary broke the rule. For the railroad, this amounted to insubordination and grounds for dismissal. The company informed Gary that he was being investigated for disciplinary reasons and was scheduled for a hearing. The railroad later denied that he had been scheduled for a disciplinary hearing, redubbing it an investigation, a meeting, and a discussion. From Gary’s point of view, though, the message was clear.

My supervisor had been on vacation, and when he came back he said, ‘Gary, what have you done?’ He wasn’t up to speed on what had happened. He said, ‘They want me to fire you!’

They were going to fire him, and actually did start it, Janice says. They actually canceled our medical insurance. At least one other Burlington Northern employee who had raised concerns about the testing reported having his insurance dropped as well.

The company might have continued their secret testing if not for one seeming oversight. I’d already had plenty of exams—my doctor released me, and I was 100 percent, Gary says. So how badly did they want my blood? I was already released from the doctor, I was already back to work, and they still send me this letter—I kind of wonder sometimes if it wasn’t a foul-up.

They were trying to fire him for refusing to take a medical test for a problem that had already been fixed, Janice says. It was just bizarre, really. They just picked the wrong person, I guess, to try to force and coerce into doing something—I mean, how can you force someone to have medical tests on something you’ve already had fixed?

Ultimately, though, it was Janice’s medical know-how that made her question the bloodwork, setting the whole case in motion. Look how naïve I’d have been if my wife wasn’t a registered nurse! Gary says.

National attention

The Avarys’ case attracted a flurry of news coverage. When you expose big companies to the media . . . the railroad can’t take that. They really want to keep things out of the paper, Gary says. In which case, the timing couldn’t have been worse for Burlington Northern: the EEOC suit was filed only days from researchers’ announcement of a draft map of the human genome, so the potential use and misuse of genetic information was a hot topic. The first reporters to interview the Avarys told them up front: It’s going to get crazy.

With all the unwanted attention it received, did the railroad shift its attitude? No, Janice says flatly. They were basically embarrassed because they got caught. And that was my feeling all the way around. They were very embarrassed because they got caught.

After the suit was filed, Burlington Northern spokesman Richard Russack insisted that the company had good intentions and said, I don’t think there’s anything wrong with a company trying to do something for the benefit of its employees.

He did admit, though, that it could have been handled better.

They were so candid, and the people they got the genetic information from had no idea it was even going on, Janice says. But she also says that attitude was not surprising. If you look at the history of the railroad, the employees have always been disposable. So that was not surprising, that they’d have the arrogance to talk about it that way. Not at all.

It’s the same reason, Gary says, that the railroad adopted the hydraulic tools that led to the same carpal tunnel surgeries it was trying to avoid paying for. The railroad knew the kind of injuries they were going to get into when they started going to hydraulic tools instead of manual. They were looking at production versus what it would do to employees.

As part of Burlington Northern’s settlement with the EEOC, the company would not have to admit guilt for secretly testing its employees. However, the settlement also required the company to send an apology letter to all of its employees, Gary says. Now how do you do that without admitting guilt?

Advocacy

The Avarys became involved in the push for genetic nondiscrimination legislation, flying to New York and Washington, D.C., meeting with legislators, testifying before Congress, and raising awareness so that their situation would not be repeated. They found out that it already had.

We got a lot of calls from the East Coast, from the West Coast—people who did not want to tell their name, but wanted to tell us what happened—because they had actually applied for jobs and that was part of the pre-employment examination, Janice says.

A lot of people wouldn’t come forward, Gary says, because they didn’t want to get fired.

Even with GINA’s passage, the Avarys note that fear of repercussions may deter individuals from reporting cases of illegal genetic testing and discrimination, especially in difficult economic times.

You have a right to ask why, Janice says. People need to know that one phone call to the EEOC would put the flags up, and that company would be immediately investigated. If someone were to call there today and say, ‘I was applying for a job and part of the requirement to get hired was genetic testing,’ you can bet in a New York minute that the EEOC would be all over them.

What most people, even today, do not do is ask questions. Why are you drawing the blood? What blood tests are you doing, and what are they for? Ask them explicitly: ‘I need to know exactly what this blood test is for.’ And ask for the entire list. You never know what might show up in there.

Life goes on

The Avarys couldn’t have imagined where their cause would take them, Janice says.

"We’re in the middle of Nebraska, so it was this whirlwind thing for us, very exciting,