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”.

Origins of human genetics. A personal perspective

“…Details of the early stages of developing human genetics are reviewed by McKusick [ 40 ], Polani [ 41 ], Harper [ 42 , 43 ], Harper et al [ 44 ]; McKusick & Harper and Childs & Pyeritz [ 45 , 46 ], and more recently Clausnitzer et al [ 4 ]. Childs in 1999 and 2013 [ 47 , 48 ] has drawn attention to two views of disease: the classification of diseases differs in medicine and medical human genetics.…”

Paul Polani and the development of medical genetics

“…Paul Polani’s bibliography illustrates how active he remained in retirement; not only are there valuable reviews of his own particular research areas (Polani 1985, 1996a) and of the early development of medical genetics generally (Polani 1996b, 1997), but also original work, particularly that on meiosis with John Crolla (Polani et al 1979a, 1989). When I interviewed him at home, shortly before his 90th birthday, numerous recent textbooks and journals had to be cleared from the table to make room for the recorder.…”