Transcultural Problems in the Use of Medical Genetics in Clinical Practice

  • A. Serra
Conference paper


The appraisal of the heavy genetic load in human populations and the fear of its increase prompted Nobel Laureate Muller’s appeal (1967) to human geneticists convened at the Third International Congress of Human Genetics in Chicago, to engage in a strong offensive for the control of human evolution. Some of his words deserve mention: “Modern culture by maximal saving of lives and fertility, unaccompanied by a conscious planning which takes the genetic effects of this policy into account, must protect mutations detrimental to bodily vigor, intelligence or social predisposition […]. If genetic defects and shortcomings were to be allowed to accumulate to an unlimited extent among us, as seems to be happening now, the condition would eventually be reached in which each person likewise would present an immense, yet in his case distinctive, complex of problems of diagnosis and treatment” (pp. 526, 527). These statements were not exaggerations. A few years later, in a Technical Report of the World Health Organization (1972), a group of experts estimated that, if in the next generations all the subjects who up to now have not reached the age of fertility would reproduce, then the incidence of polygenic diseases should increase 3–5 % per generation, and the incidence of monogenic diseases should increase 15 % per generation globally, and would double after seven generations. Muller’s appeal and proposals were echoed and supported by other distinguished geneticists (Sonneborn 1965; Lederberg 1966). Medicine, which at that time was being attracted by the power of the rapidly growing field of human genetics to promote a better understanding of human disease, felt inevitably involved in that enterprise (Motulsky 1968), and Medical Genetics developed as a new branch.


Gene Therapy Muscular Dystrophy Cold Spring Harbor Prenatal Diagnosis Gauche Disease 
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