The February 2001 publication of the first draft of the human genetic blueprint marked a new threshold in the genetic revolution. At long last a nearly complete dictionary of human genetic traits and diseases was made available to the whole world. Understanding the language of our 30,000-50,000 genes leads to greater diagnostic power and may soon lead to increasing numbers of therapies and treatments for inherited diseases.
The Benefits and Burdens of Our Genetic Future
by C. Ben Mitchell, Ph.D.
In addition, a new age of pharmacogenomics is right around the corner. Drugs will be designed for every individual patient. No longer will we take broad spectrum drugs meant to treat a wide range of patients, but drugs will be tailored to our own personal genome. The future of genetic medicine may be bright if harnessed for the benefit of patients.
Challenges for the Future of Genetic Medicine
The future of genetic medicine is also filled will social, ethical, and legal challenges, especially for the disability community. In the space provided, I can only highlight a few of those challenges.
The diagnostic/therapy gap
Genes are linked to a host of genetic conditions such as muscular dystrophy, cystic fibrosis, Huntington’s chorea, Down syndrome, and an ever-growing number of illnesses. While the ability to diagnose genetic conditions grows almost exponentially, there remains a profound time gap between diagnosis and treatment. Sadly, there are very few effective therapies for genetically linked conditions. It is likely that for some time there will be many more diagnosable genetic disease conditions than there are treatments for those conditions.
This phenomenon has resulted in the emergence of a new class of patient: the presymptomatic ill. These are persons who have been diagnosed with a disease gene for which there is no treatment. In many cases they may not show symptoms of the disease for a number of years, sometimes never. Yet they carry the knowledge that they have a genetic condition that may one day lead to their disability or death.
No one knows what the psychological and social implications of the diagnostic/therapy gap will be. What might it be like for a person to know at 8 years of age that she has the gene for Huntington’s, a disease whose symptoms do not show up until about 40-50 years of age? How will that knowledge affect her life’s choices? More importantly, how will that knowledge affect her parent’s choices as they nurture her? Will they be over-protective and smothering? Will they discourage long-term life planning?
Knowledge is power. Genetic knowledge is power to shape lives for good or ill. The challenge of genetic knowledge is know what to do with that information. For instance, women diagnosed with one of the breast cancer genes, BRCA-1 or BRCA-2, sometimes undergo prophylactic mastectomy because of their fear of getting cancer. In some cases, there was either misdiagnosis or misunderstanding of the meaning of the tests. The result is that some women experience unnecessary physical and psychological trauma associated with mastectomy. On the other hand, many women have doubtless dodged breast cancer by having the procedure. How do we balance the benefits and harms of genetic knowledge? This is a question we are only beginning to grapple with.
In an unscientific PBS online poll, only 62% of respondents said they would want themselves or a loved one to be tested for a gene that increases risk for a disease. Twenty six percent said they would not want the test. A full 11% say they do not know. (www.pbs.org/wgbh/nova/genome/survey.html)
Information about one’s possible disease conditions is highly personal information. Individuals may or may not want to know that information. Clearly there are others who might wish to have your personal genetic information, namely, your employer and your insurance company. After all, they, too, stand to gain or lose if you become ill.
In 1982, only 1.6% of companies reported that they were using genetic tests for employment purposes. By 1997, the American Management Association found that the number had grown to as many as 10% of companies. Increasing numbers of persons report genetic discrimination in the workplace. At the same time, only about 21 states have enacted laws to prevent workplace genetic discrimination and only 42 states have even minimal protections against insurance discrimination based on genetic conditions.
In that same PBS online survey, 93% said they thought employers should NOT have access to their genetic information. Poll after poll shows that overwhelming numbers of Americans want genetic privacy protected. Yet, there is no national comprehensive genetic privacy/anti-discrimination legislation. (For information on legislation see http://thomas.loc.gov and enter keywords: “genetic privacy” or “genetic discrimination”.)
What will the future hold for those with genetic conditions? Will they be able to get jobs? Will they be able to secure insurance? We should all contact our elected officials to let them know our concerns about our national genetic future.
Again, the power to diagnose genetic conditions may be very troubling. Another example of the power of genetic knowledge is its link to prenatal genetic screening. Prenatal screening may be performed either before implantation or in utero. In preimplantation screening, embryos are tested for certain genetic conditions and either implanted or destroyed depending on the wishes of the prospective parents. In post-implantation screening, unborn children are tested in the womb to see if they are carrying deleterious genes and either carried to term or aborted.
Because of the diagnostic/therapy gap, almost all prenatal genetic screening is used in connection with abortion decisions. Since there are so few genetic therapies, prospective parents are faced either with the knowledge that their child will carry a disease gene when he or she is born or may decide to terminate the pregnancy. Some parents who would not choose embryo selection or abortion may refuse prenatal genetic testing, since they intend to bring a child to term regardless of genetic condition. Others may find the information important as they prepare for a child who may have disabilities. But who decides what is a disease gene and what is merely a different genetic condition?
Rutgers University sociologist Marque-Louisa Miringoff has observed:
In the pursuit of good health, we have begun to tread a fine line in “human selection.” We often choose to rule out certain diseases or, more accurately, certain human beings with those diseases. In some cases, as with Tay-Sachs disease, an as of now invariably fatal illness in early childhood, such a decision may be motivated by compassion. From many viewpoints, there is little quality of life in any sense traditionally understood, and great anguish and tragedy.
Other diseases, however, challenge our logic more severely; our sense of balance between cost and benefit is not clear. Huntington’s chorea is a case in point. Would a Woodie Guthrie be born today? Would his parents, as carriers of the disease, bear a child with the known risk? Could we now or soon screen him out prenatally? If the pace of genetic intervention continues, such an individual would not be born. Yet, I for one, am glad that he lived, although I mourn the anguish of his later life. One wonders, too, whether some perception of his coming illness contributed to the extraordinary creativity of his life.
Clearly, it is a just and meaningful desire to prevent fatal and debilitating diseases. Yet in pursuing this goal, we pay unobserved costs. In eliminating individuals with unwanted diseases, we also create a mind-set that justifies the process of human selection. We thus move into the questionable arena of human worth, and to some degree eugenic thought. We forgo the idea of therapeutic change (i.e., dietary change or other forms of treatment) and opt instead for elimination. Individuals are seen as flawed. It is easier and more desirable to prevent their existence than to work for their survival. (The Social Costs of Genetic Welfare, Rutgers University Press, 1991: 159-160).
The new eugenics
“Eugenics” is a compound word from two Greek words meaning “good” and “genes.” The eugenics movement began at the turn of the last century in England and the United States. Under the leadership of social engineers such as Francis Galton and Charles Davenport, the eugenics movement became a powerful social force.
So-called “Fitter Families” contests were held across the United States in the 1920s and 1930s. Fitter families were families with fewer incidences of physical and mental disability. Their ethnic heritage also had to remain intact. Racial intermarriage disqualified families. Thus, the fitter families were exclusively Caucasian. Mary T. Watts, co-founder of the first contest at the 1920 Kansas Free Fair, said: “While the stock judges are testing the Holsteins, Jerseys, and whitefaces in the stock pavilion, we are judging the Joneses, Smiths, and Johns.” Winners were given a medal inscribed with the slogan, “Yea, I Have a Goodly Heritage.”
The eugenics movement tried to create “better humans through breeding.” Yet breeding was not the only way to achieve the desired goals. In order to prevent “undesirables” from reproducing, mandatory sterilization laws were enacted. The “feebleminded,” “indolent,” and “licentious” were sterilized either without their consent or against their wills. So-called “eugenical sterilizations” increased from around 3,000 in 1907 to over 22,000 in 1935. By the 1930s most states had mandatory sterilization laws. In one well-known case, a young mentally retarded girl named Carrie Buck was given the “choice” either to be sterilized or to be returned to her asylum. Because both her mother and grandmother had been mentally retarded, the famous jurist Oliver Wendall Holmes declared of Carrie Buck, “three generations of imbeciles is enough” and mandated that she be sterilized. For information and hundreds of pictures from the American eugenics movement see www.eugenicsarchive.org/eugenics.
With the power of genetic technology, a new eugenics has emerged. A 1993 March of Dimes poll found that 11% of parents said they would abort a fetus whose genome was predisposed to obesity. Four out of five would abort a fetus if it would grow up with a disability. Forty-three percent said they would use genetic engineering if available simply to enhance their child’s appearance.
Increasingly, college age women are being solicited for their donor eggs on the basis of their desirable genetic traits. In the summer of 2000, the Minnesota Daily, the student newspaper of the University of Minnesota, ran an ad for egg donors. Preferred donors were women 5 foot six inches or taller, Caucasian, with high ACT or SAT scores, with no genetic illnesses, and extra compensation was offered to those with mathematical, musical, or athletic abilities. The ad stated that acceptable donors would be offered as much as $80,000 for their eggs. This is eugenics with a vengeance.
Our culture’s emphasis on the genetically “fit” and our difficulty in embracing those who are “less fit” fuels this new eugenics mindset. We must resist the new eugenicists if we are to preserve a truly human future.
For a Truly Human Future
To be sure, the genetic revolution will mean great advances in the relief of human suffering and the treatment of human diseases. We may even see genetic cures. At the same time, we must make informed and ethical choices about our genetic future.
Most people in the disability community already know that “disease” and “illness” are not value-free labels. Disabilities (like abilities) are largely social constructs rather than clear-cut categories. Unfortunately, many abled persons and many in the scientific community seem unaware that this is the case.
Discrimination against persons because of their race, gender, or disabilities is an ugly reality. Discrimination based on genetic identity is even uglier. If we would see a truly human future for ourselves and for our children we must value individuals for who they are, not for what they can do. Our laudable goal of treating human disease and relieving human suffering must not be allowed to become a tool for eliminating the persons who are suffering. To do so would be to use the good gift of genetic knowledge for evil ends. Only vigilance on the part of all of us can prevent a bleak genetic future. The social, ethical, and legal implication of the new genetics is not an arena for only the scientist, philosopher, theologian, or lawyer. We all have a stake in our genetic future.
|C. Ben Mitchell, Ph.D., is senior fellow of The Center for Bioethics & Human Dignity in Bannockburn, Illinois and associate professor of bioethics and contemporary culture at Trinity International University.|
He received his doctorate in philosophy with a concentration in medical ethics (with honors) from the University of Tennessee in Knoxville. He has done additional study in genetic ethics at the Cold Spring Harbor Laboratories, Cold Spring Harbor, New York and at Green College, the medical college of Oxford University in England.
He publishes widely in bioethics, contributing to books, journals, and news stories, including editorials in The Washington Times newspaper. He is presently editing a volume on the ethics of human cloning and is general editor of the forthcoming International Dictionary of Bioethics. He also serves as the editor of Ethics and Medicine: An International Journal of Bioethics: http://www.ethicsandmedicine.com
In addition to his academic work, Dr. Mitchell also consults on matters of public policy and has given testimonies before policymaking groups including the U. S. House of Representatives, the Institutes of Medicine, and the Illinois Senate. He has appeared in a number of local and national media, including Janet Parshall’s America, MSNBC, and Kentucky Public Television, The Washington Times, and USA Today.