Recorded interviews with human and medical geneticists

Peter S Harper

doi:10.1007/s00439-016-1744-9

Abstract

A series of 100 recorded interviews with human and medical geneticists has been carried out and some general results are reported here. Twenty countries across the world are represented, mostly European, with a particular emphasis on the United Kingdom. A priority was given to older workers, many of whom were key founders of human genetics in their own countries and areas of work, and over 20 of whom are now no longer living. The interviews also give valuable information on the previous generation of workers, as teachers and mentors of the interviewees, thus extending the coverage of human genetics back to the 1930s or even earlier. A number of prominent themes emerge from the interview series; notably the beginnings of human cytogenetics from the late 1950s, the development of medical genetics research and its clinical applications in the 1960s and 1970s, and more recently the beginnings and rapid growth of human molecular genetics. The interviews provide vivid personal portraits of those involved, and also show the effects of social and political issues, notably those arising from World War 2 and its aftermath, which affected not only the individuals involved but also broader developments in human genetics, such as research related to risks of irradiation. While this series has made a start in the oral history of this important field, extension and further development of the work is urgently needed to give a fuller picture of how human genetics has developed.

Highlights

Human genetics and the overlapping field of medical genetics have been prominent themes for research since the beginnings of modern genetics just over a century ago and even before this, some of the earliest observations and investigations on the mechanisms of heredity being based on human characteristics and inherited disorders
The differentiation of these areas of genetics into a specific scientific discipline and a distinct medical speciality, has only become marked over the past 70 years, with the beginning of human genetics dating essentially from the end of World War 2 and the birth of medical genetics occurring around a decade later (Harper 2008). These relatively recent origins mean that many founders of the field and other early workers are still living, giving the opportunity of recording memories of their lives and experiences through interviews. Such interviews are relevant in documenting the history of some developments made possible by major technological advances, such as human chromosome research, which began largely in the mid-1950s and for recording the practical applications of these discoveries, which have formed a large part of medical genetics, essentially beginning around 1960, and which are playing an increasing role in wider clinical and laboratory medicine
It should be noted that Trefor Jenkins [69], born in Britain, moved permanently to South Africa and played a distinguished part in the resistance to apartheid, as can be seen in the interview, in addition to developing the country’s foremost human genetics unit. This series of 100 recorded interviews with human and medical geneticists (104 individual interviewees) described here is the most extensive undertaken so far, and the only one for which almost all edited interview transcripts are available on the World Wide Web

Summary

Introduction

Human genetics and the overlapping field of medical genetics have been prominent themes for research since the beginnings of modern genetics just over a century ago and even before this, some of the earliest observations and investigations on the mechanisms of heredity being based on human characteristics and inherited disorders. These relatively recent origins mean that many founders of the field and other early workers are still living, giving the opportunity of recording memories of their lives and experiences through interviews Such interviews are relevant in documenting the history of some developments made possible by major technological advances, such as human chromosome research, which began largely in the mid-1950s and for recording the practical applications of these discoveries, which have formed a large part of medical genetics, essentially beginning around 1960, and which are playing an increasing role in wider clinical and laboratory medicine. Material from the interview series has been used for a range of presentations and in two books (Harper 2006a, 2008), no detailed description of the project and of the interview series as a whole has been made until now, apart from a short note in the Genmedhist Newsletter (Harper 2011)

Aims

Methods

Discussion

Compliance with ethical standards