Medical and clinical genetics: their roots and challenge.

Abstract

The origins and development of human, medical and clinical genetics are interwoven and yet each of these disciplines follows its own path.The beginnings of a systematic human genetics can be traced to the middle of the 19th century, but it took human genetics almost 100 years to mature fully and influence medicine. Its origins can be traced to the work of three scientists: Galton, Pearson and Bateson.In 1865, 6 years after Darwin had published Origin of Species in London, and the year when Mendel's paper, “Experiments on Plant Hybrids”, was published in Brunn, Galton, also in London, set out his first ideas on human heredity. His thinking then developed in two directions. The first laid the foundations for the scientific study of human heredity through biometrics and quantitative genetics. This part of Galton's thinking is summarized in his epitaph: “the dominant idea of his life's work was to measure the influence of heredity on the mental and physical attributes of mankind”.Galton's other line dealt with the application of heredity through eugenics, a word that Galton coined to signify “well bred”. He wanted, I quote his words: “to produce a highly gifted race of Man by judicious marriage through several generations”. Families of merit should be identified and positively encouraged to breed; conversely, the “ weak could find a welcome … in celebrate monasteries”.