Abstract for presentation at 11th International Congress of Human Genetics

The importance of providing genetic services is the axiom of this workshop and the methods by which this can be achieved are the subject of our discussion. How these approaches can be supported is the question I have been asked to consider. The first principle of our consideration is that such efforts are not inevitably beyond the reach of low resource countries. Our recently issued March of Dimes Global Report on Birth Defects provides a clear indication of simple steps for adequate, indeed satisfactory, solutions to some of these basic problems. Many societies initially need additional resources – through public-private partnerships -- as they develop genetic services. Here is where foundations play an important role. They depend on voluntary contributions of funds and personal efforts in kind. The years after World War II have seen a remarkable growth of lay support groups. These will be reviewed and recommendations for building such organizations will be made.
Terminology has always perplexed us. Alfred Korzybski in his tome Science and Sanity: An Introduction to Non-Aristotelian Systems and General Semantics, noted that we have fewer words and ideas than experiences, and that this tends to lead to the identification ("confusion") of two or more situations. When the March of Dimes, in the wake of its successful role in the development of polio vaccine, decided to address the problem of reproductive health, the question of terminology loomed large. The phrase "Birth Defects," was coined to include those physical conditions that were not anatomic (eg. albinism) as well as the metabolic and the intellectual ones. The term "defects," whose intent certainly had not been pejorative, has nevertheless troubled some people. In the end, we must accept the fact that there is no perfect term and be optimistic that this is a temporary one.