Genetic Illnesses

There is no such thing as immutability in biological stocks, for with each new generation a species inherits new genes in the form of mutations. On rare occasions a mutation can improve the individual’s survivability chances, and the new gene then becomes more widespread in the population as a whole. Nevertheless, the vast majority of mutations end up reducing the number of offspring. This is the classic balance of mutation and death which is called “natural selection,” and it is accepted by biologists as decisive in all species.

This book aims to pose certain broad philosophical questions about the values and goals of human civilization and the path which humankind will follow in consciously choosing either to pursue or to reject artificial selection. It is not intended as a discussion of the complexities of human genetic disease. By way of analogy, one could compare this document to a roadmap rather than to an automobile repair manual, but a few particularly important nuts and bolts still need to be mentioned.

We have made such advances in medicine that natural selection has been reduced to almost zero. Already 98% of Americans survive at least to their twenty-fifth birthday.20 Medicine is intended largely to benefit its creators – the currently living. Thus, if we speak about illness, the emphasis is on “horizontally transmitted” infectious diseases over “vertically transmitted” genetic diseases. It is, after all, very difficult for a doctor, a pharmaceutical company, or a hospital to collect a fee from people who have yet to be born. Medicine is a business that depends on paying clients, and the most motivated clients – those who not only can but who are eager to pay – are the ones who are hurting now.

The Encyclopedia Britannica succinctly presents some of the salient facts related to the 3,500 autosomal dominant, autosomal recessive, and sex-linked disorders that have already been catalogued (the list is rapidly expanding):
Epidemiological surveys suggest that approximately 1 percent of all newborns have a single gene defect and that 0.5 percent have gross chromosomal anomalies severe enough to produce serious physical defects and mental retardation. Of the 3 to 4 percent of newborns with birth defects, surveys indicate that at least half suffer a major genetic contribution. A minimum of 5 percent of all conceptions that evidence themselves have gross chromosomal anomalies, and 40 to 50 percent of spontaneous abortions involve chromosomally abnormal embryos. About 40 percent of all infant mortality is due to genetic disease; 30 percent of pediatric and 10 percent of adult patients require hospital admission because of genetic disorders. Medical investigators estimate that genetic defects – albeit often minor – are present in 10 percent of all adults…. About 20 percent of all stillbirths and infant deaths are associated with severe anomalies, and about 7 percent of all births show some mental or physical defect.

It gets scarier. Spontaneous mutation rates, genetic “typos,” have been estimated at 200 per person,22 most of which appear to be neutral, but an unknown percentage of which are undesirable when expressed, their effects being cumulative. Aside from genetic anomalies which are necessary and sufficient to cause a specific illness, a much larger number of multifactoral illnesses exist in which certain genes create a disposition toward specific illnesses, for example, most cancers, diabetes, and hypertension.

Early eugenicists had the naïve notion that simply to prevent persons suffering from genetic illness from having children was sufficient to produce a healthier population with each generation; however, most genes which cause diseases are both recessive and extremely rare. Thus, the number of carriers greatly outnumbers the number of persons actually affected, and the nonreproduction of actively ill individuals could achieve only an extremely slow reduction of the disease in subsequent generations. This means that if an undesirable trait occurred in 1% of the population it would take 90 generations to reduce the incidence to 0.01 and 900 generations under conditions of random mating to achieve a reduction to the level of one in a million.23 Even then, a natural spontaneous mutation rate would remain, which would also have to be countered on a never-ending basis.

Genetic engineering techniques are advancing rapidly. It is already possible for carriers of genetic diseases to conceive children in vitro, then perform embryo screening, known as preimplantation genetic diagnosis, and select a healthy embryo for implantation in the mother’s womb. This is a eugenic technique which is already being implemented on a voluntary, gradual basis. In the not so distant future it will be possible to make changes in the germ cells (those involved in reproduction), and not just in the somatic cells (those not involved in reproduction). Germ-line therapy does not fit into either positive or negative eugenics, both of which amount to encouraging or discouraging an individual from entering into the sequence of generations, but such therapy is unquestionably eugenics. When the possibility first arose, the general attitude was one of absolute condemnation; now the tendency is to speak more in terms of a moratorium of this new therapy.

The bioethicist Fritz Mann at the Free University of Brussels writes:
Aside from religious grounds, there exists no ethical justification for not influencing the germ line. If one day a cure is discovered for healing a hereditary disease in this fashion, not only for its bearer, but for all his descendants, what reason could there be for forbidding it?

descendants, what reason could there be for forbidding it?24 Such an achievement will represent a genetic breakthrough, but the puzzle of genes and their interactions is only beginning to be solved. Nevertheless, geneticists are already altering the germ lines of plants and animals, and human germ-line therapy is only a question of time. Meanwhile, genetic counseling and treatment are on occasion helping those alive today at the expense of future generations. A prospective parent who knows that he or she is the carrier of a recessive gene which can cause illness in subsequent generations, can selectively abort fetuses in which the gene will be actively expressed. Thus, the immediate children of the union are free from the illness, but the number of carriers of the recessive gene increases further down the generational chain.

The question is whether parents have a moral right to bring children into the world who will be disadvantaged by their heredity. To quote the philosopher Emmanuel Lévinas, “my son is not simply my creation, like a poem or an object. He is not my property. Can parental responsibility be sloughed off, denied? Marcus Pembrey, a professor at the Institute of Child Health at the University of London, in discussing genetic counseling argues that The aim should not be to reduce the birth incidence of genetic diseases, because to make that the objective of the services would be to by-pass the mother’s choice in the matter of selective abortion… The view that reduction in the birth incidence of genetic disorders is not an appropriate objective for genetic services is finding wide acceptance.

This is the so-called “personal service model”27 of genetic counseling, which subordinates children’s well-being to that of their parents. Such a view could well be challenged in the courts, perhaps in wrongful life legal suits (which first appeared in the United States in 1964, claiming wrongful death suits as a legal precedent) or even on a class-action basis. Whereas we may have previously lacked the knowledge to reduce genetic illnesses, the ignorance argument will have less and less weight in the future. The parental appeasement posture will not be comparable to the Thalidomide baby scandal of 1957-1961, for this will be an act committed with full knowledge and intent.

Germ-line interventions will encounter resistance from people who feel, some on religious grounds, that such therapy is “unnatural” and that we have no right to “play God.” Even conventional care is rejected, for example, by certain religious groups, and one occasionally comes across newspaper articles describing a family whose child has died for lack of medical treatment. There will also be nonreligious objections by people who are wary of making mistakes. Indeed errors are a real possibility. When we will have achieved a much better understanding of human genetics, however, the nonreligious objectors will have considerably less wind in their sails.


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