Two Book Reviews Exploding The Gene Myth by Ruth Hubbard and Elijah Wald
Perilous Knowledge: The Human Genome Project and Its Implications
Reviewer: Janeen Ogden (ANT 440B - Fall, 1999)

Exploding the Gene Myth was written by Ruth Hubbard and Elijah Wald with the intention of providing an overview of modern genetics and of helping the reader understand and evaluate current applications of genetic research. The book is written in the first person because Ruth Hubbard, a biologist, takes responsibility for the scientific content and for much of the interpretation presented. I like the fact that the book is written clearly enough that one does not need special training to understand it. I found it particularly interesting that Ruth Hubbard is professor emerita of biology at Harvard University. Yet, she is eager to point out her disagreement with the general view that molecular biology has taken in moving from an integrative biology to a biology that traces everything back to the "great molecule"--DNA. Her objection lies in the "reductionist" effort to explain living organisms in terms of the workings of "important molecules" and their component parts.

Hubbard starts out by outlining the role genetics plays in our lives today--how our problems are fitted into a genetic framework, like giving family histories when we go see a doctor or to determine premiums when we buy health or life insurance, or in having prenatal genetic tests performed on pregnant women. These scenarios reduce the whole human being into a collection of tiny parts (reductionism), fostering the idea that our behaviors are best explained by studying and tinkering with the parts rather than the whole. This ideology paves the way for molecular biology and the Human Genome Project--an attempt to map and sequence all the DNA of a human "prototype," thus declaring the essence of humanity. Hubbard is quick to point out that "being human" is much more than having a DNA sequence and that molecular biologists are simply not qualified to tell us the meaning of life. They may be able to give some answers for some aspects of the question, but their answers are useful only in specific contexts.

Exploding the Gene Myth suggests that too often genes are looked at as absolute predictors, and that when we speak of genes "for" this or that trait, we limit ourselves because we believe that our capacities are encoded in our genes. This may prevent us from taking the available steps to change ourselves or the conditions in which we live. The authors instill throughout the book that genetic functions are embedded in complex networks of biological reactions and social and economic relationships, and that they are not simple processes that can be duplicated in the laboratory. I was impressed with Hubbard’s broad-based and open-minded viewpoints.

After a brief journey through the "old" eugenics movement involving involuntary sterilization and immigration policies, the book moves into the more subtle and overt "new" eugenics, which maintains the continuing idea that it is more beneficial for certain people to have children than others and that a vast range of human problems can be cured once we learn how to manipulate our genes. Prenatal testing is attacked on the grounds that these tests offer little precise information, only suggesting problems without telling us how significant the problems really are. Hubbard points out that genetic "screening" differs from "testing" in that screening involves testing populations rather than individuals. Discussions are presented on screening for Tay-Sachs disease among Ashkenazi Jews, screening for sickle-cell anemia found predominantly in African Americans, along with screening for cystic fibrosis in Euro-Americans. The authors emphasize, however, that screening programs may do more harm than good, raising anxiety levels of people who are diagnosed as only carriers of these traits, especially since adequate provisions for counseling are seldom funded. Genetic predictions through testing or screening are based on the assumption that there is a straightforward relationship between genes and traits. But, the authors give us a brief lesson in the science of genetics and point out that genetic conditions involve an unpredictable interplay of many factors and processes, including the environment. If we try to isolate the biological factors from social and economic factors, we oversimplify and distort reality.

A pressing argument against research that attempts to identify genes for particular conditions is that it paves the way for an unlimited number of new disabilities and diseases. This would allow pharmaceutical companies and physicians a great opportunity to capitalize on these newly invented diseases. The authors raise the question that even if researchers are able to come up with tests to predict the chances of getting diseases like atherosclerosis, would people benefit from knowing that they are at a higher risk for developing a serious condition before they experience symptoms? In some cases the information may permit people to take special dietary or environmental precautions, but others may become fatalistic.

The book looks not only at those conditions that follow a predictable pattern of inheritance, but also at conditions that seem to "run in the family," such as diabetes, heart disease, and cancer. Scientists hope to identify DNA sequences that could serve as predictive genetic "markers" for them. The danger in this project, however, is that a marker for a particular trait in one family may not be associated with that trait in another. This might elicit needless fears or offer unwarranted reassurances.

Beyond looking at inherited conditions and hypothetical genetic tendencies, scientists also suggest linking genetics to human behaviors like homosexuality and alcoholism. The authors point out that "predictive genetics" could be dangerous, perhaps lead to self-fulfilling prophesies. For example, indoctrinating young people with the idea that they are likely to become alcoholics may make them alcoholics more quickly than that of any inherited trait to alcoholism. Another problem in the effort to establish a correlation between genetics and behaviors is that it is doubtful that predictions can have scientific validity when a behavior may be altered by the very fact that it is being studied. However, Hubbard points out that because these issues are of interest to our society, scientists will likely continue searching for genetic causes for behaviors, and people will tend to accept whichever claims confirm their own beliefs.

A particularly interesting chapter in Exploding the Gene Myth was on manipulating genes, especially the section dealing with modifying the DNA in our reproductive cells and passing the altered DNA to future generations in the germ line. This is conventionally called germ-line gene therapy. However, Hubbard avoids using the word "therapy" because it implies the promise of health benefits. And, this type of manipulation is not intended to treat health problems, but rather to alter the genetic makeup of future human beings. Current attempts at this manipulation involve the use of very early embryos, produced in a dish by in vitro fertilization, and then choosing embryos without mutations to implant into the womb. This technology has frightening consequences in that unanticipated undesirable "side effects" may be "medically generated" and could become heritable beyond scientific control. Hubbard emphasizes that modifying chunks of DNA will produce unpredictable effects because we don’t know all of the functions that are linked to a DNA sequence. Plus, tampering with genes and choosing "good" and "bad" ones clearly has eugenic implications.

Another section in the book addresses how scientists market genes. Pharmaceutical and biotechnical industries have invested a great deal of money to develop and market new products. Naturally, for these companies to prosper, researchers will need to put more emphasis on conditions with "genetic tendencies" rather than those few rare conditions thought to be purely genetic. The book discusses this commercialization along with conflicts of interest that exist at the various levels of genetic research. Hubbard discusses the questionable ties between major universities and projects funded by the federal government versus those that are financed by biotechnological firms. These conflicts of interest go even higher than the university level. Hubbard tells of the director of the National Center for the Human Genome Project, James Watson, resigning in 1992 after the National Institute of Health initiated an inquiry into Watson’s holdings in several biotechnology companies. These companies were also doing gene sequencing work, making them not only competitors of the government project but also potential beneficiaries of its findings. Clearly these is a need for regulation between publicly-funded research institutions and privately-owned commercial firms.

The questions of owning the genome is brought up with the idea of "patenting" DNA sequences. Hubbard cautions us not to lose sight of the fact that DNA sequences are part of our bodies, not new inventions that researchers have created. "Ownership" needs to remain in the public domain, not where the information can be exploited commercially. According to the author, one key to preventing consumers from being the losers is to reshape our attitudes about scientists and physicians, becoming more informed and more skeptical of the "expert" recommendations of what will benefit us.

The latter part of Exploding the Gene Myth addresses genetic discrimination in education, in the work place, and in the insurance industry. Hubbard discusses how some educational institutions relieve themselves and society of responsibility by attributing learning problems to underlying biological causes rather than to problems of the learning environment. Predictive tests for "learning disabilities" set up the potential for discrimination through labels and stigmas of abnormality. Genetic discrimination in the workplace comes about through genetic screening in an attempt to link genetic traits of susceptibility to industrial diseases. Hubbard notes that without protection beyond OSHA (Occupational Safety & Health Act) and ADA (Americans with Disabilities Act), potential future diagnostic tests to detect inherited aberrations could affect some ninety million people. As to insurance, the authors appeal for legislation to forbid predictive genetic tests that would discriminate against those labeled as "uninsurables" by insurance companies.

Hubbard and Wald conclude their book with a discussion about DNA-based identification systems, privacy, and civil liberties. Although the reliability of "DNA fingerprinting" data is in doubt within the scientific community, law enforcement officials are currently using DNA technologies. Some are storing profiles in data banks in hopes of tracing repeat criminals. When DNA profiles are developed to identify a person unequivocally, some problems may be solved, but new issues of privacy and civil liberties will need to be considered. Informed consent (except perhaps in criminal investigations) and regulations to insure that DNA samples are used only for intended purposes will be necessary.

Perilous Knowledge, the Human Genome Project and Its Implications, was written by Tom Wilkie, a particle physicist and science editor of the Independent (Britain). The book begins with a long and detailed review of scientific developments leading up to the idea of sequencing the human genome. The review includes interesting stories of modern technology like that of treating a four-year-old girl in 1990 with an inherited disease, severe combined immune deficiency (SCID), by infusing genetically engineered white blood cells into her body, successfully boosting her resistance to the disease. Wilkie leads us through a brief study of genetics, beginning with the discovery of DNA by James Watson and Francis Crick in 1953, leading to how cells make protein, and on to the process of gene regulation. He notes that relatively little is known about how genes are regulated, and that in the context of the Human Genome Project, it may be easy to overlook this important subject. Wilkie states that, "...it is clear that knowing the genetic specification for all the proteins will be less than half the story...the sum of the parts is less than the whole" (Wilkie 1993).

Wilkie lays the foundation for the Human Genome Project with discussions (perhaps a bit too detailed) on chromosomes and gene mapping. He then discusses the technological revolution in molecular biology that started in the 1970’s, leading to genetic engineering marvels like producing pure human insulin and other human proteins. The genesis of the US Human Genome Project is described in detail, outlining its connection with the US Department of Energy and the National Institute of Health. It was James Watson who was asked to head the Office of Human Genome Research in 1988, and by 1989 the office commanded a $60 million budget. The initial goals were to first create a genetic map, relating genes to each other, and then create a second ‘physical’ map which would relate known DNA sequences to each other. With many nations reluctant to be left behind the Americans in the biggest project ever in biology, there was a need for an international forum to coordinate the efforts and minimize duplication and overlap. Consequently, the Human Genome Organization (HUGO) was set up.

The British genome program is second to the U.S. in terms of financing and scientific productivity. They decided to focus only on active DNA. However, in collaboration with the American project, they do plan to sequence the entire genome of an organism simpler than the human being to be used as a model for the more complex case. They chose the transparent nematode worm which reproduces every three days--a real advantage for researchers studying mutations. France, too, has collaborated with the U.S., collecting reference samples of cultured cells taken from members of extended human families and creating a human genetic map. Denmark, Italy, and Germany have national genome initiatives, but they are less ambitious and less coordinated than the others. Japan has been the slowest of the industrial nations to set up a program of research, perhaps for cultural reasons.

Wilkie identifies some of the complications with international cooperation that have come up--like the U.S. Department of Commerce placing an embargo on access to the International Genome Database during the Gulf War in 1991, perhaps to prevent its use for biological warfare. Another complication came with the National Institute of Health’s announcement that it was applying for patent protection to cover newly discovered sequences, raising the same question Hubbard brings out in Exploding the Gene Myth: Who owns the human genome?

Halfway through the book, Wilkie begins discussions on the implications and potential problems of the program. He uses the example of sickle cell anemia and how poorly society has dealt with this disease (through failed screening programs in the 1970’s, leading to labeling and discrimination and other social problems) as a foreshadow of what we might expect from the Human Genome Project. He also points out that researching these diseases raises the issue of international equity because they predominantly afflict people from the poorest countries of the world and minority ethnic groups in the developed countries. Will First World scientists focus on these diseases or will they choose to research disorders like diabetes and heart disease that tend to be diseases of affluence which disproportionately affect the more wealthy?

Like Hubbard, Wilkie makes a point to the reader that the results of genetic research are not definitive--genes do not tell you everything about human beings. He also shares Hubbard’s view that genetic damage is not solely inherited. A cell’s DNA may be altered or damaged from environmental factors such as radiation or chemicals.

Wilkie states that "one of the most revolutionary aspects of the Human Genome Project may be to undermine the system of health care in the USA." Because U.S. insurance companies exist to make a profit, genetic screening would likely cause insurance companies to discriminate against those who have a genetic disease. In socialized health care, everyone is covered, and the system is set up to deal with the average national death rate in diseases such as cancer. Assuming there is no preventative action that can be taken for the disease, the availability of genetic testing would not alter the actuarial figures for the annual death rate. So, there is no advantage to anyone in knowing their genetic susceptibility because there is no difference in the cost to the system. It stands to reason, then, that in a socialized health care system, genetic tests would probably not even be used, unless they promised some benefits in terms of an extended life or better health of those tested.

Wilkie poses similar questions and comes to similar conclusions as Hubbard in his discussions of gene privacy issues and genetic discrimination in the workplace. He believes one of the first applications of knowledge generated by the Human Genome Project will be in the area of genetic testing, especially in prenatal diagnosis. Along with this will come options and difficult choices (like that of pregnancy termination) not previously posed to expectant parents in the past. No doubt there will be abuses, stigmas, and discriminations, and society will also have to decide who has the right to the knowledge of one’s genes.

As the Human Genome Project proceeds, moral questions concerning access to the fruits of genetic research will certainly come up. Wilkie discusses the potential dangers and consequences of using gene therapy or gene replacement for reasons beyond curing diseases, such as to enhance certain physical characteristics in an otherwise normal human being. But, he seems to think that our lives are more likely to be affected by splicing genes into bacteria to manufacture human proteins for use as pharmaceuticals than by splicing those genes into humans. Wilkie gives examples of human growth hormone currently being used not only as a remedy but also as a cosmetic to make short kids taller and old people younger. This hormone, along with another protein made by genetic engineering, erythropoetin (EPO), are also circulating on the athletics black market because they are thought to increase athletic performance. Wilkie points out that EPO may be responsible for the deaths of as many as eighteen European professional cyclists within a four-year period. The author candidly shares his thoughts on those who will be providing for treatment of genetic diseases--the pharmaceutical industry. Deficiencies of the market system will no doubt work against the interests of those suffering from genetic disease.

Perilous Knowledge ends with a chapter on the moral consequences of the Human Genome Project which I found to be particularly interesting and the best part of the book. Wilkie believes that the real significance of the project may be in culminating the revolution begun by Darwin and Mendel, both in scientific terms and in terms of its effect on society. He describes in detail the three possible developments the project is likely to accelerate: 1) The apparent similarities between humans and animals, 2) the accentuating differences between one human being and another, and 3) the increasingly ‘atomic’ view of human beings and of life itself. The project’s most important function, he says, should be to transcend itself and teach us and remind us that genes are not the fundamental basis of human life. He concludes with this: