Chapter 10
Ethical Issues and Public Opinion

The institutions of genetic, scientific, and technical research, and the industries of genetic application, are relatively well organized and generously funded. Their imperatives are clear: push toward new knowledge and its applications. By contrast, our ethical, social discussion is unfocused, episodic, and scattered. We need to harness moral thinking to genetic technique. The need for organized, intelligent debate involving an active public and committed scientists has never been clearer.

—Everett Mendelsohn, "The Eugenic Temptation: When Ethics Lag behind Technology" (Harvard Magazine, March-April 2000)

Rapid advances in genetics and its applications pose new and complicated ethical, legal, regulatory, and policy issues for individuals and society. The issues society must consider include how to protect and manage genetic information and who should have access to it; the consequences of knowledge about personal genetic information for individuals; and the repercussions of genomic information for groups such as ethnic and racial minorities. For example, African-Americans were among the first to call for the inclusion of African-American genetic sequences in the human genome's template, and their concerns are vitally important because historically they have been victimized by "genetic inquiries" and research. Genetic discrimination poses a threat to members of minority groups, as well as to other workers, when employers are able to take adverse action based on applicants' or employees' asymptomatic genetic predisposition to, or probability of developing, a medical disorder.

Furthermore, many scientists, ethicists, and policy makers fear that without adequate protections genetic information may be used to deny individuals not only employment but also health care coverage or legal rights should genetic information be misused in the criminal justice system. They also worry that fear of genetic discrimination might deter participation in research or therapy. The American public shares these concerns about privacy and the management of genetic information. According to Christy White, John Meunier, and Gillian Steel Fisher, in "Public Perception of Genomics/Genetic Testing: CGAT Survey Results" (Pharmaweek, November 4, 2005), the 2005 Cogent Research Syndicated Genomics Attitudes and Trends Survey (CGAT), an annual survey that examines public awareness, understanding, favorability, and interest in genomics, found that more than two-thirds of the public believes insurance companies will try to use genetic information to deny health coverage, and 72% favor federal laws and regulations to protect genetic information. The CGAT survey also reports that most people strongly oppose government access to their genetic information.

In "Concerns in a Primary Care Population about Genetic Discrimination by Insurers" (Genetics in Medicine, May-June 2005), Mark Hall et al. also find considerable public concern about privacy and the potential for discrimination. Forty percent of those surveyed said the potential for discrimination affected their willingness to be tested, and agreed with the statement, "Genetic testing is not a good idea because you might have trouble getting or keeping your insurance."

In December 2004 the Genetics and Public Policy Center published Reproductive Genetic Testing: What America Thinks (http://www.dnapolicy.org/images/reportpdfs/ReproGenTestAmericaThinks.pdf), an analysis of survey data characterizing public awareness and knowledge, perceptions, and views about various aspects of genetic testing. The center is a part of the Phoebe R. Berman Bioethics Institute at Johns Hopkins University and is funded by the Pew Charitable Trusts. The center's mission is to create the environment and tools needed by decision makers in both the private and public sectors to carefully consider and respond to the challenges and opportunities that arise from scientific advances in genetics. Based on the largest public opinion survey ever conducted of American attitudes toward genetic testing, the research included twenty-one focus groups, sixty-two in-depth interviews, two surveys (one in 2002 and the other in 2004) with a combined sample size of more than 6,000 people, and both in-person and online town-hall meetings.

Researchers find that between 2002 and 2004 the proportion of Americans who believe spouses and extended family have the right to know genetic test results increased, whereas the proportion who believe employers and insurance carriers have a right to know decreased. About two-thirds of respondents in 2002 believed that the spouse of a person carrying a gene increasing the risk of disease had a right to know. In the 2004 survey more than 75% of survey respondents thought spouses had a right to know, and more than 50% indicated that extended family members also had a right to know. This contrasted sharply with support for disclosing genetic test results to insurance carriers and employers. In the 2004 survey only one-fifth of respondents believed insurance carriers had a right to such information, and fewer than 10% believed employers should be informed of test results.

A host of ethical issues related to health and medical care arise from increased availability of genetic information, such as the use of this information to guide reproductive decision making and the application of genetic engineering to reproductive technology. Reproductive applications are an especially emotionally charged topic as many antiabortion advocates staunchly oppose any action to alter the development or course of a naturally occurring pregnancy, such as in vitro fertilization and preimplantation intervention as well as the use of stem cells obtained from human embryos. Scientists, ethicists, and other observers also fear that genetic engineering technology will rapidly progress from enabling prenatal diagnosis and intervention to prevent serious disease to preconception selection of the traits and attributes of offspring—the creation of "designer babies."

These fears may be justified. Susannah Baruch and Kathy Hudson, in "The PGD Survey: Current Practice and Policy Implications" (Fertility and Sterility, September 2006), a survey of fertility clinics, find that nearly half the clinics that offer embryo screening permit couples to choose the gender of their child, and sex selection without any medical reason to warrant it was performed in 9% of all embryo screening performed in the United States in 2005.

Genetic testing challenges health care professionals to rapidly acquire new knowledge and skills to effectively use new technology and to assist their patients in making informed choices. The quality, reliability, and utility of genetic testing must be continuously reevaluated and regulated. Along with quality control measures, health care professionals and consumers must determine whether it is appropriate to perform tests for conditions for which no treatment exists and how to interpret and act on test results such as an individual's increased susceptibility to a disease associated with several genes and environmental triggers.

Philosophical, psychological, and spiritual considerations invite mental health professionals, ethicists, members of the clergy, and society overall to redefine concepts of human responsibility, free will, and genetic determinism. Behavioral genetics looks at the extent to which genes influence behavior and the human capacity to control behavior. It also attempts to describe the biological basis and heritability of traits ranging from intelligence and risk-taking behaviors to sexual orientation and alcoholism.

There are also environmental issues associated with the applications of genetic research, such as weighing the risks and benefits to human health and the environment of creating genetically modified animals, crops, and other products for human consumption. Legal and financial issues center on ownership of genes, deoxyribonucleic acid (DNA), and related data, property rights, patents, copyrights, and public access to research data and other genetic information.

HUMAN GENOME PROJECT CONSIDERS ETHICAL, LEGAL, AND SOCIAL ISSUES

Thoughtful review and analyses of policy issues and ethical considerations were deemed so pivotal to society and to the success of the Human Genome Project (HGP) that the Department of Energy and the National Institutes of Health dedicated 3% to 5% of the HGP's annual budget toward the study of the ethical, legal, and social issues (ELSI) arising from the availability of genetic information. Francis S. Collins et al. note in "New Goals for the U.S. Human Genome Project: 1998–2003" (Science, October 23, 1998) that the HGP's stated ELSI goals were to:

• Examine the issues surrounding the completion of the human DNA sequence and the study of human genetic variation
• Examine issues raised by the integration of genetic technologies and information into health care and public health activities
• Examine issues raised by the integration of knowledge about genomics and gene-environment interactions into nonclinical settings
• Explore ways in which new genetic knowledge may interact with a variety of philosophical, theological, and ethical perspectives

• Explore how socioeconomic factors and concepts of race and ethnicity influence the use, understanding, and interpretation of genetic information, the utilization of genetic services, and the development of policy

The HGP endeavor constitutes the world's largest bioethics program, and it has become a model for ELSI programs throughout the world.

Study Questions Impact of Disclosing Results of Genetic Testing

The National Human Genome Research Institute funds studies that consider the ethical and public policy implications of genetic testing and research. In one such study, "Genetic Testing for Alzheimer's Disease and Its Impact on Insurance Purchasing Behavior" (Health Affairs, March-April 2005), Cathleen D. Zick et al. look at how the results of genetic tests for adult-onset diseases might influence insurance purchases. They followed 148 healthy, normal people participating in a randomized clinical trial of genetic testing for Alzheimer's disease for one year after testing for the presence of a specific allele of the apolipoprotein E (apoE) gene, which if present increases the risk of developing Alzheimer's disease. Zick and her coauthors find that subjects who tested positive were 5.76 times more likely to have purchased or increased the scope of their long-term care insurance than those who tested negative for apoE. Presumably, this is because they anticipated increased need for insurance to help defray some of the costs of long-term medical and nonmedical care, such as assistance with activities of daily living.

According to the researchers, this finding concerns insurers, who fear that when genetic testing for Alzheimer's risk assessment becomes common, it will trigger adverse selection in long-term care insurance. Adverse selection occurs when individuals take financial advantage of risk classification systems. In this instance, insurance companies expect that a disproportionate number of people at risk of using the insurance will choose to purchase it. Insurance companies contend that they, too, should have access to the results of genetic testing because if they are unaware of occurrences of adverse selection they could experience economic losses.

Advocates of antigenetic discrimination legislation, however, maintain that if genetic test results are shared with insurers, many consumers could be denied coverage or charged excessively high premiums. They believe that distinctions made on the basis of genetic information are unfair because genetic makeup, unlike personal behaviors that modify health risks, cannot be changed. Furthermore, researchers speculate that the fear of discrimination may lead people to decline to participate in genetic research and testing.

Promise and Potential Perils of Genomics

In "Biology's New Forbidden Fruit" (New York Times, February 11, 2005), Oliver Morton outlines the scientific and commercial possibilities of synthetic biology—the new technology that enables scientists to write genes and genomes from scratch as opposed to trading naturally occurring genes from organism to organism. Morton presents examples of the great promise in designing genomes, such as the effort to produce the malaria drug artemisinin more cost effectively. He observes, however, that companies that synthesize genes on demand already exist, and he cautions that as this technology becomes increasingly affordable and available, the likelihood that someone may use it to create pathogens (infectious agents) increases. Furthermore, he acknowledges that diseases can be genetically engineered to be drug- and vaccine-resistant, warning that as a society we have not yet implemented a strategy to safeguard against the use of genetically engineered pathogens as weapons. Morton concludes that informed and concerned citizens can help to protect against misuse of genetic engineering technologies but adds that "to spur such debates in the wider public, biologists themselves will have to become more willing to think and talk about the ever more powerful technologies that they increasingly take for granted in the lab."

SURVEYS REVEAL SUPPORT FOR, AND CONCERN ABOUT, GENETIC RESEARCH AND ENGINEERING

Genetic research and engineering technologies promise to address some of the most pressing problems of the twenty-first century, such as cleaning the environment, feeding the world's hungry, and preventing serious diseases. However, like all new technologies, they pose risks as well as benefits. In general, Americans support advances in genetic research and technology, and they are optimistic that the outcomes will ultimately be used to reduce sickness and suffering, as opposed to generating legal and ethical controversies.

Most Americans are confident that genetic engineering holds great promise, and they support research and development of biotechnology, with one significant exception: cloning humans. Americans of all ethnicities, educational attainment, and political persuasions remain staunchly opposed to human cloning. Although there is some support for therapeutic, as opposed to reproductive, cloning initiatives, many Americans do not even endorse cloning domestic animals. Thirty-four percent of Americans surveyed by the Gallup Organization in 2003 said they thought cloning should be allowed for research purposes; however, 59% held that cloning should be banned. (See Table 10.1.) Americans have also rejected businesses engaged in commercial cloning activities. For example, the California-based Genetic Savings and Clone, Inc., which launched a pet cloning business in 2004, closed in late 2006.

Arguments for and against other genetic engineering applications, such as production of genetically modified food crops and the feasibility of stem cell research, arise from widely different philosophical and ethical perspectives on the new technology. Some of the fears about genetic diagnosis presume that the use of such technologies will be alien, impersonal, and technologically difficult. Scientists and advocates of applying genetic engineering to improve human life foresee a future in which parenting is guided by genetic testing, and new reproductive technologies are routine aspects of medical care in our lives. Bioethicists and others concerned about the implications of the routine use of this biotechnology contend that it is possible and advantageous to fund, discuss, and regulate genetics in the same way we currently consider environmental medicine, nutrition, and public health.

Americans Are Aware of Genetic Testing

According to the survey Reproductive Genetics Testing, researchers find relatively high levels of awareness about genetic technologies, with a majority of the American public reporting familiarity with cloning (97%), in vitro fertilization (90%), genetic testing (89%), and prenatal testing (83%). Nearly half of the survey respondents were acquainted with genetic modification, and 40% said they had heard of the relatively new technology of pre-implantation genetic diagnosis (PGD). (PGD is genetic testing performed on embryos produced via in vitro fertilization. It has been used by people at risk of transmitting a single gene disorder to their offspring as well as to detect chromosomal abnormalities in embryos of older women undergoing fertility treatment.) (See Figure 10.1.)

Knowledge and awareness of genetic testing vary by gender, educational attainment, and income, with women and those with higher education and income reporting the highest levels of knowledge about reproductive genetic technologies. (See Table 10.2.) Similarly, higher education is associated with accurate information about, and understanding of, the capabilities of genetic testing. More than two-thirds of respondents with postgraduate education were aware that genetic testing could be used to determine whether an individual is at increased risk of developing cancer compared to just half of those without a college education. Men were more likely than women (59.1% versus 54.9%), and whites more likely than African-Americans (57.9% versus 51.4%) to know the capabilities of genetic testing. (See Table 10.3.)

Approval of Genetic Testing Depends on How It Is Used

Americans' support for the use of reproductive genetic testing depends on how it is being used. Nearly three-quarters approve of the use of genetic testing to screen for fatal diseases and for tissue matching, and the majority supports testing to identify people at risk of developing diseases such as cancer. (See Table 10.4.) There is much less support for genetic testing for purposes of trait selection such as intelligence or strength. However, 51.3% of Americans believe that using prenatal genetic testing to select for gender is an appropriate use of the technology. Support for different types of genetic testing varies slightly by gender, race, and ethnicity, but the greatest difference in support is by religion. Fundamentalist and Evangelical Christians were the least supportive of using reproductive genetic technologies for any purpose; Protestant respondents reported the highest levels of approval (30%) for genetic testing for traits than any other religious group. As educational attainment of respondents increased, so did support for prenatal genetic testing and testing to identify fatal diseases.

Overall, Americans are worried about how genetic technologies will be used. Three-quarters of those surveyed said they agreed with the statement, "Technology will inevitably lead to genetic enhancement and designer babies." (See Figure 10.2.) By contrast, other survey respondents, mostly male, contended that genetic technologies should be used because intervention in reproduction will lead to tremendous improvements in human health. Table 10.5 shows that 55.6% of male respondents strongly agreed that reproductive genetic technology is potentially the next step in human evolution. Older adults, African-Americans, Democrats, and those without a religious affiliation were most likely to agree with this statement.

Eighty-one percent of respondents indicated considerable concern that the use of genetic technologies could result in discrimination against and stigmatization of people with disabilities. (See Figure 10.3.) The poll researchers note that women, people with less education, religious fundamentalists, and Evangelical Christians were most concerned about discrimination. Other concerns about the social consequences of genetic technologies include the fear that parents will be pressured to use technology or that there will be societal expectations that everyone should be flawless—free of imperfections, diseases, or disabilities. Seventy percent of those surveyed agreed that the ability to control human reproduction will lead to treating children like products. (See Figure 10.4.)

Americans were also concerned about legislation and oversight of reproductive genetic testing, balancing the wisdom of legislation and government oversight with the autonomy of individual and family decision making. The poll researchers find widespread concern about the potential for unregulated technology to get "out of control" (84%), but more than two-thirds of survey participants (70%) were also skeptical about government regulators invading private reproductive decisions. About the same proportion (67%) said people should make their own decisions because the consequences of their choices were so intensely personal. More than three-quarters of respondents said the appropriate role of government was to oversee or track the effects of using genetic testing (76%); nearly three-quarters believed government should study the health effects of genetic testing; and 58% said the government should ensure equal access to this technology across demographic groups. (See Figure 10.5.)

ESTABLISHING PRIORITIES FOR GENETICS RESEARCH

In their essay "Some Gene Research Just Isn't Worth the Money" (New York Times, January 18, 2005), Keith Humphreys and Sally Satel describe the efforts of two geneticists, Kathleen Merikangas of the National Institute of Mental Health (NIMH) and Neil Risch of Stanford University, to develop a framework for establishing priorities for genetic research. The geneticists originally published their controversial stance in "Genomic Priorities and Public Health" (Science, June 4, 2004), in which they argued that genetic research should focus on diseases whose development and course are unaffected by personal behaviors or environmental influences, which may be easily modified. They cited autism (a complex developmental disability that typically appears during the first three years of life and affects three crucial areas of development: communication, social interaction, and creative or imaginative play), Type 1 diabetes, and Alzheimer's disease as examples of suitable candidates for genetic research.

Merikangas and Risch argued that disorders such as Type 2 diabetes, alcohol and nicotine addictions, and other disorders that may be averted by modifying personal behavior should not be the top priorities of genetic research because there are already effective interventions for these disorders. For example, maintaining a healthy weight, eating less, and exercising more can help prevent Type 2 diabetes, and environmental factors such as smoking bans, high sales taxes, and social pressures have helped reduce smoking and its related health problems. Addiction researchers, among others, hotly contested the geneticists' research agenda, arguing that even though some addictive behaviors might be modifiable through environmental approaches, the social and monetary costs associated with addiction are substantial enough to warrant genetic research dollars.

NOTED AUTHORS ADDRESS THE RISKS AND BENEFITS OF GENETIC ENGINEERING

In Our Posthuman Future: Consequences of the Biotechnology Revolution (2002), Francis Fukuyama, a professor of international political economy at Johns Hopkins University and a former member of the President's Council on Bioethics, cautions about the use and misuse of science and biotechnology. He observes that genetic engineering has gained popular acceptance as it is used to prevent or correct selected medical conditions, but he shares the widely held concerns about the unforeseeable results of gene manipulation and the potential for altering the complexion of society through the use of "enhancement technology" to customize the attributes of offspring. Fukuyama asserts his fear that those able to afford the genetic interventions to produce offspring who are smarter, stronger, more athletic, talented, and better looking will further widen the chasm between the economic classes. He writes that the ways in which society chooses to employ, regulate, and restrict genetic engineering may challenge traditional concepts of human equality, changing existing understanding of human personality, identity, and the capacity for moral choice. Furthermore, he contends that genetic engineering technologies may afford societies new techniques for controlling the behavior of their citizens and could potentially overturn existing social hierarchies and affect the rate of intellectual, material, and political progress. Fukuyama predicts that genetic engineering and other applications of biotechnology have the potential to sharply alter the nature of global politics.

Despite his fears and cautions about the relatively recent ability to intentionally modify the human organism as opposed to waiting for evolution, Fukuyama does not consider it necessary or advisable to prohibit any actions that alter genetic codes. He would, however, start by banning reproductive cloning outright, to establish a precedent for political control over biotechnology. If society does not institute effective regulation, Fukuyama warns:

We may be about to enter into a posthuman future, in which technology will give us the capacity gradually to alter [human] essence over time…. We do not have to regard ourselves as slaves to inevitable technological progress when that progress does not serve human ends. True freedom means the freedom of political communities to protect the values they hold most dear, and it is that freedom that we need to exercise with regard to the biotechnology revolution today.

Bill McKibben, the author of the renowned book The End of Nature (1989), which describes the consequences of damage done to the environment by overpopulation and global warming, also published Enough: Staying Human in an Engineered Age (2003), in which he warns that genetic engineering may not fulfill its promises. McKibben worries that society has been oversold on the potential benefits of genetic manipulation and that promises that it will make future generations healthier, smarter, happier, taller, thinner, better-looking, stronger, and saner may instead rob future generations of free will and freedom of choice. Like Fukuyama, McKibben is concerned that enabling the wealthy to custom-equip their offspring with good looks, high intelligence quotients, and athletic prowess will reinforce and deepen existing social class distinctions.

Although advocates claim it will prevent debilitating and fatal diseases and forestall death, McKibben believes that even the genetically enhanced will suffer. He fears that they will be beset by self-doubts, wondering if their achievements are their own or simply attributable to the geneticist. He wonders whether children whose parents have chosen to enhance them in the lab before birth will be able to make choices about their own lives, or will they just be making choices according to their prescripted genetic plans? McKibben contends that "the person left without any choice at all is the one you've engineered."

McKibben also argues against using germline engineering technologies to prevent diseases or germline gene therapy to treat diseases. Such therapies involve more than simply altering the affected individuals' genes; they embed the genetic changes in their reproductive cells (sperm and eggs) so that the genetic alteration is heritable by all future generations. Furthermore, McKibben notes that society is as yet unable to distinguish between preventing disease and simply enhancing natural characteristics. Citing efforts to prevent dwarfism (short stature) and genetic enhancements to increase the height of a child who is naturally of short stature, he observes that "there's no obvious line between repair and improvement." He also expresses some skepticism about the feasibility of effectively regulating the distinction between repair and improvement in medical offices and clinics throughout the United States. McKibben asserts that the pace of change has accelerated such that decisions about how to use nanotechnology and other genetic engineering techniques must be made before their use is widely available and accepted. He fears that society may accept the view that humans are an "endlessly improvable species" and exhorts readers to conclude that human beings as currently constituted are good enough.

In Playing God?: Human Genetic Engineering and the Rationalization of Public Bioethical Debate (2002), the sociologist John H. Evans traces the public debate about human genetic engineering from the late 1950s through the mid-1990s. Evans believes that the debate has eroded over time from a substantive, rational discussion about the outcomes of human genetic engineering to a superficial dispute about the means to achieve a select few results. He contends that by 1995 bioethicists no longer engaged in discussions of the larger, weightier, philosophical, and theological arguments about human genetic engineering. Instead, bioethics focused on resolving practical questions such as how medical decision making should occur and which parties should participate in the decision-making process. The widespread availability of genetic testing and counseling reinforced the argument that parents should be the ultimate arbiters of what is best for their offspring. Evans believes that early acceptance of these genetic engineering applications paved the way for societal acceptance of the inevitability of additional and potentially more controversial forms of human genetic engineering.

Evans concludes by calling for renewed debate about these significant ethical issues, recommending the establishment of separate groups to discuss the ends and means of human genetic engineering and cautioning that advisory commissions, to truly function representatively, should include lay people. He also urges the American public to become involved in human genetic engineering debates by voting and selecting legislators who respond to their constituencies when preparing and enacting resolutions and policies about the use of biotechnology.

The renowned bioethicist Arthur L. Caplan thinks that ethical implications of new knowledge in genetics are not at the forefront of the minds of professionals and health care consumers because of the uncertainty about how to use the new knowledge. In "If Gene Therapy Is the Cure, What Is the Disease?" (November 8, 2002, http://www.bioethics.net/articles.php?viewCat=6&article Id=58), Caplan, a strong supporter of the HGP, asserts that the greatest challenge to securing funding and support for genomic research is public fear of germline engineering—that is, manipulating the human genome to improve the human species—and he acknowledges that this fear is based on the historical reality of horrible eugenics (hereditary improvement of a race by genetic control) practices in Germany and other countries.

Caplan cites examples of genetic engineering in the United States such as the Repository for Germinal Choice in California, also known as the "Nobel Prize sperm bank," which solicits and stores sperm from men selected for their scientific, athletic, or entrepreneurial acumen. The banked sperm is available for use by women of high intelligence for the express purpose of creating genetically superior children. Caplan observes that there have been relatively few critics of this practice, whereas the mere suggestion of the possibility of directly modifying the genetic blueprint of gametes (sperm and eggs) has generated fiery debate in professional and lay communities. He contends that the history of eugenically driven social policy is reason enough to question and even protest the actions of the Nobel Prize sperm bank but that it does not argue against allowing voluntary, therapeutic efforts using germline manipulations to prevent certain serious or fatal disorders from besetting future generations.

Caplan concludes that the decision to forgo germline engineering does not make ethical sense. He laments:

[S]ome genetic diseases are so miserable and awful that at least some genetic interventions with the germline seem justifiable…. It is at best cruel to argue that some people must bear the burden of genetic disease in order to allow benefits to accrue to the group or species. At best, genetic diversity is an argument for creating a gamete bank to preserve diversity. It is hard to see why an unborn child has any obligation to preserve the genetic diversity of the species at the price of grave harm or certain death.

Caplan fears that choosing to refrain from efforts to modify the germline will result in lives sacrificed—that is, important benefits will be delayed or lost for people with disorders that might be effectively treated with germline engineering. Caplan recommends responding to justifiable concerns about the dangers and potential for abuse of new knowledge generated by the genome with frank, objective assessments of the appropriate goals of this application of biotechnology.

Caplan continues to exhort discussion of safeguards to prevent abuses of new knowledge and technologies. In a September 2, 2006, presentation, Biobanking, Genomics, & Genetic Engineering: Where Are We Headed, and What Rules Should Take Us There? In addition to re-examining the question, "Should society limit how far we push genetic manipulation?" Caplan discussed concerns about biobanking—physical stores of human tissues and DNA, which often include the donor's personal information. He opined that biobanks offer tremendous potential benefits for selected patients, including those receiving organ transplants, but questioned whether there are controls in place to effectively prevent black market sales of human organs and other misuse of biobank tissues and confidential donor information.