MEETING

Gene and Destiny

SCIENCE AND REASON
Man is much more than the sum of his genes. Biological complexity does not exhaust all the factors that define the human person, who belongs to the Mystery that made him. A contribution toward clarification in the debate on the Human Genome Project

BY MARCO PIEROTTI

A definition of myself? This is like asking for a definition of the infinite

Pier Paolo Pasolini (Corpi e luoghi [Bodies and Places], Theorema Libri, Rome 1981)

This article takes up the theme of genetics, which received ample treatment at this year’s Meeting in the sessions: “Elementary, my dear Watson? Everything you ever wanted to know about the discovery of a gene, but never dared to ask” and “Is our destiny written in our genes?,” in which the participants were Edoardo Boncinelli, head of the Biology Laboratory at the Istituto San Raffaele in Milan; Carlo Croce, Director of the Philadelphia Cancer Institute; Luca Sangiorgi, researcher at the University of Bologna; and the author, researcher at the Istituto Nazionale Tumori in Milan. The theme also aroused a heated debate on “Health: between centralism and devolution” between the Italian Minister of Health, Umberto Veronesi, and Roberto Formigoni, President of the Region of Lombardy.
In these past few months, news from the scientific community concerning the deciphering of the human genome has resonated throughout our world. A broad debate has ensued, in which space has not always been found for an approach to the truth that takes into account all the factors involved and is fed by a real passion for knowledge. Without making any claim to filling some of the lacunae that have emerged in the debate on the genome, on genetic determinism (that is, how much of a human being is completely determined by his genes), and on the relationship between faith and science, I would like to offer a discussion of some objective aspects that are not often emphasized in dealing with these problems, along with some reflections for which I am obviously personally responsible. The announcement of the almost complete sequencing of the human genome has brought forth a highly emotional reaction, exemplified by Clinton’s statement that “we have learned the language in which God wrote the book of life,” and by the declaration of the leaders of the two groups who reached the goal almost simultaneously, J. Craig Venter and Francis Collins: “Man is much more than the sum of his genes.” Despite this reassurance, in actuality the problem of genetic determinism and its impact on human destiny and freedom have emerged very clearly, now that the goal of knowledge of the entire genetic heritage of man seems near at hand. Nonetheless, there seems to be no disagreement in the widespread opinion that this scientific achievement is only “the beginning of the end” and that much more time is needed before what is now just a sketch becomes a functionally complete project. “It will take at least a century to reveal completely the mysteries of the genome.” (D. Baltimore, Nobel Prize for medicine) However, the albeit partial use of genetic information is already an operative reality, and the risk cannot be ignored of a reductionism and genetic determinism that may lead to an increase in the distance between what we believe we know and what we truly know. The leading medical geneticist Victor McKusick, author of the book listing the more than six thousand genetic diseases known to man, expresses a meaningful concept which illustrates very effectively human limitations, even within the sphere of man’s headlong thrust toward ever new frontiers of knowledge: “When the radius of knowledge is lengthened, the circumference of the unknown expands.”

“Predicting” risk

In the medical field, the new conquests of knowledge of the human genome have enabled the consolidation of a new molecular dimension of medicine, in particular in a sector defined as “predictive medicine,” which, on the basis of the information that can be derived from the genetic make-up of an individual, can estimate the risk this person runs of developing a given disease in the course of his life. Currently predictable are some genetic diseases due to the alteration of individual genes, which on the whole can be considered “rare.” Nonetheless it is felt certain that this approach can be applied to a series of very frequent and common illnesses like cardiovascular problems, diabetes, obesity, etc., where the individual genetic make-up, however, is part of a larger picture affected by numerous other factors. Above and beyond the important but obvious issues of the privacy of genetic information and the inviolability of the rights of every individual to his own genetic identity, a problem remains that directly involves the doctor’s role in this new reality. Predictive medicine further broadens the gap between diagnostic capacity and therapeutic possibilities, which here would mean certain forms of prevention like the adoption of particular ways of living or the personalized use of medicines or preventive chemical or hormonal therapies (these last in particular for some forms of hereditary tumors). Despite the reasonable optimism about the prospects opened up by this approach, the problem still remains of the need for a new patient-doctor relationship that takes into account the fact that often it is not a case of a person who is ill, but rather of a healthy person with a genetic defect that could potentially put him at risk for a given disease. We are dealing here with a new category of subjects, patients at risk, who become part of the health-care dynamic. There may be no need to hypothesize a new type of patient-doctor relationship; it may be enough to remember a fifteenth century French adage, reported by Giancarlo Cesana in his recent book Il ministero della salute [The Ministry of Health], which says, “Treat sometimes, relieve often, comfort always.” It would thus suffice to return to the origins of the medical profession, to the pact of solidarity that leads the doctor to share the need of a person (the patient) who entrusts himself to him with his own destiny and an adverse “genetic destiny.” This is one of the fundamental points of the matter, which the daily impact with reality poses to us: the relativity of genetic predisposition to what represents one of the two components of the human being, the one that is measurable–biological–but that cannot reduce or go beyond the other, the spiritual component.

Behavioral schizophrenia

This irreducibility of the components of the human being is, however, sometimes denied by a sort of secular “fundamentalism,” which tries not only to reduce faith to a private and personal fact, but also censures the (often imperfect) attempt to translate this into practice, that is, into a scientific, cultural, or political position. It is a sort of claim to reduce adherence to the relationship with the Mystery to a purely intellectual exercise and a sort of behavioral schizophrenia. This, to return to the subject being discussed, also helps us to understand the impact that certain health-care reforms can have on the relationship between doctor and patient when the former is reduced to a simple applier of norms and prescriptions. Remaining in a purely biological sphere, a further limit to genetic determinism is found also in the extreme complexity that seems to emerge in the functional relationship between different biological structures. These latter are now investigated using sophisticated computerized instruments that increasingly enable a global analysis of the genes of a cell and of their protein content. To give an idea of this complexity, all we have to do is think of a yeast cell, whose genome has been completely deciphered and contains about 6,000 genes. Each of these act in one of four ways: it can not function, or function at a low, middle, or high level. This implies that in a given moment, all the yeast genes can be in any one of the trillions of different combinations possible. If we think that the various estimates of the global number of genes contained in the human genome are in the range of from 30,000 to more than 100,000, we can understand how even a total genetic identity can result in functional (phenotypical) diversity. This is an extremely important concept, which places the accent on the inseparable interaction between two evolutionary factors, that of our genetic composition inherited from our ancestors, which represents our potential, and the one represented by the interaction between our genes and external or environmental factors, understood in a broad sense and including also cultural aspects, which then condition the passage from potentiality to actuality. It is undeniable that this interaction between genes and environment is already significant in the micro-environment represented by the womb and the mother’s feelings or, as we usually say, her “mood.” I don’t know how much the various techniques of assisted fertilization have taken this factor into proper account.

With the same number of enzymes

I thus believe that biological complexity, which lies in the possibility of trillions of combinations by which the genes in just one cell of mine can be expressed–a complexity that, in effect, contains within itself the elements of a biological freedom that contrasts with the strict determinism of my genetic make-up–does not in any case exhaust all the factors that make me the person I am. Our biological or measurable reality is paired with a reality that cannot be measured, consisting of my existential dignity, my desires, my freedom to adhere or not. In his book cited above, Cesana expresses this concept very effectively: “Biochemistry is probably sufficient for having a child, but to educate and raise him much more is needed. There are those who do it and those who don’t, even if they have the same number of enzymes.” An ethical vision is thus necessary to guide us along this path to a more intimate definition of human biology. Nonetheless, at the moment it seems that behind the definition of ethics lurk concepts that are often confused and contradictory, making it necessary to have a clear point of reference. Father Giussani expresses this emblematically in his book The Religious Sense: “There can be no ethics that does not take into account ontology, that is to say, a search for the factors–not only biological–that make up human life.” This position indicates to us that even in a context of an historic increase in the knowledge of the biological constitution of man, this knowledge cannot represent the variable that in the course of time can change an ethical conception of human life. This position is not shared by those who feel instead that ethics must vary with the increase in scientific knowledge, whose operative tools and aims would never be in this way ethically verifiable a priori but, on the contrary, would be a determining element of it. In the best of hypotheses and in good faith, this would be a superhuman and proud assumption of responsibility subject to nothing other than a materialistic vision of a science that knows no limits and thus knows no God. This vision is one that a great scientist like Albert Einstein would have no part of: “It is certain that underlying every somewhat delicate scientific investigation is the conviction, analogous to religious feeling, that the world is based on reason and can be understood.… My work as a scientist is to discover how God designed the natural world.” We are talking here about reason, on which the world is based and which guides the scientific method; reason, that Father Giussani calls “a singular event in nature, in which it reveals itself to be an operative necessity for explaining reality in all its factors.” How can one see in a position like this an incompatibility between faith and science? To conclude on the theme of the relationship between our genes and our destiny, the answer cannot avoid the observation that the “I” is made up of two different realities, and trying to reduce one to the other, denying the role and the complex–and in part biologically deterministic–function of our genetic make-up, or ignoring the most common perception of what human destiny represents, which is its relationship with the Infinite, with Mystery, is tantamount to denying the evidence of experience, which should always be compared with these two different realities.