© 1986 by The Society for Integrative and Comparative Biology
Science as a Way of Knowing: Human Genetics1
Department of Pediatrics, The Johns Hopkins Hospital Baltimore, Maryland 21205
SYNOPSIS. Genetics contributes to our way of knowing in two ways: 1) there is an analytical method that sorts out relationships between genes and phenotypes and 2) the genes transmit biological information, specify cellular structure, and mediate homeostasis and development. Human genetics can be used to clarify many aspects of human variation. The paper deals with three: 1)the meaning of individuality; 2) the nature of causes; and 3) possibilities and limits for goals in medicine.
The genes define individuals as unique representatives of many classes. They contribute variability to the qualities of each class. Phenotypes have two kinds of causes (Mayr, 1983): proximate causes lead to events consequent upon decoding of the DNA, while ultimate causes consist of the genetic and cultural events that shape the species and the individuals of which they are composed. Disease is a consequence of incongruence between a genetically conditioned homeostasis and experiences and events. The genes set limits for homeostatic response thereby limiting both the forms and expressions disease can take in various individuals and the extent to which the latter can be modified by treatments of various kinds.