Genetic Medicine: A Logic of Disease

This is a book about medical thinking. It is about the ideas that direct the human enterprise of medicine along paths that accord with both physicians and the people they serve. Research in biology and events in society have made clear that traditional medical thinking is not enough; new ideas are needed. One set of ideas has to do with how medical care is made available and paid for. Another has to do with squaring new procedures and treatments with ethics and social mores. Still another has to do with accommodating the individuality of disease. Information, now accumulating at unprecedented rates, is overwhelming medicine, and there are questions about how to make it useful for medical practitioners and students. It is with how all these ideas affect medical education that this book is most concerned.…

Now genetics is exposing medicine to concepts that provide new ways to think about disease, its causes, and its pathogenesis. We have no choice but to examine how these ideas are influencing medical thinking today, how they should do so, and how we might use them to make medical education more relevant to what is happening in communities no less than in laboratories. In short, we should ask how genetics might be integrated with medicine.…

Medicine integrated biochemistry and physiology long ago, but genetics taps into aspects of biology outside the province of either. Mendelian segregation and independent assortment, gene action, mutation, mitosis, meiosis and reproduction, polymorphism and the composition of the gene pool, the distribution of genes in families, natural selection, and evolution are the elements of genetics that caused Sewall Wright to call it the “rootstock” of biology, and, as such, medicine cannot afford to be without it. Spontaneously and gradually, a synthesis of genetic and medical ideas—or perhaps a “geneticization” of medical thought—is now beginning. It is a wedding of equals, and its offspring affords us a new logic, a new way of examining old questions of the nature of disease and its causes. This book is devoted to expounding this logic.

If human open systems are congruent with experiences of the physical and social environment, and if disease is a consequence of incongruence stemming from variably adaptive unit steps of homeostasis, then every disease has a social component that cannot be denied, but is ignored when thinking stops at proximate causes. Proximate causes are outcomes of remote causes, and it is the latter that make a case of disease into a particular person suffering the consequences of his or her uniquely incongruent physiology. Remote causes are of no interest to the machine mentality that concentrates on proximate causes in an essentialist framework of disease. But the population thinker is driven to the nominalist interpretation of disease in which the uniqueness of the sick individual, the heterogeneity of genes and experiences, the continuity of disease from lethal to none discernible, and the dynamic quality of disease in which heritability changes, are all evidence of the rule of remote causes.…

A part of the debate—that having to do with “genetic” disease—has been going on for more than 20 years. Ethicists, sociologists, theologians, lawyers, educators in health and biology, philosophers, geneticists, and a variety of representatives of the public, including disease-related family support groups of which there are now above a hundred, have in meetings, symposia, books, pamphlets, and handouts generated a good deal of heat and no little light. Questions of privacy, confidentiality, legal and civil rights, insurance, education, and whether or not in whom, by whom, and when and where testing for vulnerabilities is to be done, are all objects of intense scrutiny.

What are the concerns expressed by these observers of today’s medicine? They are fears of an imperious technology, of genetic determinism, and of loss of individual autonomy and identity. The observers fear that indiscriminate exposure of genetic vulnerability will have social consequences in the form, say, of cancellation of insurance or the loss of jobs, or that the lack of any preventive appropriate for some traits will impose an unrelievable sense of doom. The observers fear laws that require testing for susceptibility or that do not protect the exposed citizen, and they fear labeling of people according to traits rather than by the aggregate of qualities that constitute a unique human being. They fear a new eugenics based on knowledge of the genes, not of normality, but of disease.