ESHG 2006 Historical Session

Professor Toine Pieters kindly organised this session as part of the ESHG Congress in Amsterdam. This proved highly successful, with four excellent speakers and good discussion. Almost 100 people attended the session and a summary is given below with abstracts of all for talks. Many thanks to all involved.

Monday, May 8, 2006 - 13.15-14.45 hrs - Room A

I. Genes and Disease: The rise of genomic medicine in a cultural context
Susan Lindee,
University of Pennsylvania, Department of History and Sociology. Cancer health communication and genetics: A historical perspective

In this paper, I open by considering one form of a contemporary consumer science-the internet DNA testing kit-as a sign of popular interest in genetic ancestry and genetic disease.   I suggest that the DNA test kit is only the most recent form that the marketing of genetic disease and genetic identity have taken.  I then turn to three case studies suggesting how popular ideas about heredity and genes have played a critical role in the development of medical genetics.  I consider the history of twins research, of research with the Pennsylvania Amish, and of scientific study of a particular, very rare,
Jewish disease, Familial Dysautonomia.  In each case, I will be tracking how the knowledge of parents, patients, research subjects and other persons untrained in genetics research was incorporated into the infrastructure of genetic medicine.  I close by suggesting that the status of genetic medicine as a consumer science can be expected to shape what will happen in relation to some of the startling options that present themselves to us today: for human cloning, and for reproductive practices that make having a simple mom and dad sound old-fashioned.

II. Cancer health communication and genetics: A historical perspective
Stephen Snelders
Department Metamedica, VU medical Center Amsterdam

From the First World War on anti-cancer organizations in Europe and the Americas attempted to transform the responsible citizen in a sentry patient, ever watchful for signs of cancer. Knowledge of the heredity and genetics of cancer had a problematic relationship to this transformation. This paper reports on a systematic study of sources on cancer health education from the medical and public domains in the Netherlands since 1910, analysed from an international comparative perspective. Dutch cancer specialists were until the 1980s not at all enthusiastic about spreading too much detailed knowledge among laymen, and preferred to channel information and guidelines through intermediate health professionals. Their central concern, which still forms a major problem in cancer health communication, has been the relationship of genetic knowledge to the creation of cancerphobia among large sections of the public, with adverse consequences for strategies of prevention and early diagnosis.

III. A comparative approach towards the development of human genetics in West- (former FRG) and East Germany (former GDR) in the post-war period
Hans Peter Kroener
University of Munster, Institute of Medical History

Human Genetics and particularly medical genetics thrived under the Nazis but was considered to be tainted after the war because of the geneticists’ involvement in unvoluntary sterilisation, euthanasia of the mentally ill and the holocaust. The reappointment of some of the leading national-socialist racial hygienists in West-Germany now flying the flag of human genetics and their clinging to a traditional concept of genetic research led to an international isolation of these scientists which was enhanced by a missing public interest in their discipline reflected in a correspondingly low level of sponsoring by the Deutsche Forschungsgemeinschaft (German research association). The situation changed when in 1956 the Federal Republic started on a national atomic energy program which involved the investigation of radiation effects on man to calm fears in the population of this new technology. Due to the low degree of instituonalisation, the “Deutsche Forschungsrat” (German Resarch Council) recommended to establish institutes of human genetics at each West-German university. By the end of the sixties, these recommendations had been realised and West-Germany was well equipped to meet the challenges of the medicalisation of human genetics. In East-Germany the situation was worsened by the rise of Lysenkoism in 1948. Although Lysenko’s doctrine became a state dogma, it exerted its main influence in pedagogics and psychology whereas Mendelian genetics could survive under cover in the biological sciences. Stronghold of Mendelian genetics was the Institute for Cultivated Plants in Gatersleben where Hans Stubbe, leading East-german Geneticist, reduced Lysenkoism to absurdity by accepting it at face value and falsifying it by experimentation. Human genetics, however, was anathema and regarded as “fascist pseudo-science” par excellence. The rise of medical genetics in the mid-sixties and the silent abandonment of Lysenkoism after Khrushtschevs downfall in 1964 led to a rising demand for using the new tools of genetic screening and counseling in the interest of the population. This pressure led to the establishment of a centrally controlled project “Human genetics” which started its work in 1971. By the end of the seventies, the German Democratic Republic had established a functioning network of genetic counseling. The state of research, however, never reached a height comparable to the Western countries.

IV. Genetic screening criteria agenda setting in the Netherlands
Carla van El
Department Metamedica, VU Medical Center Amsterdam

Since the 1960s principles of genetic population screening and emerging screening practices co-developed. In the 1990s on the international and national level discussions arose whether the ‘traditional’ criteria for mass screening, as formulated by Wilson and Jungner in 1968 were still feasible. It was argued that with the growing possibilities for genetic screening criteria should be more tailored to practical needs. Similar trends are discernable, yet countries seem to differ in the importance attached to certain criteria over others, and in the way criteria are actually interpreted and put to use.

In this paper I will focus on the process of agenda setting regarding genetic screening in the Netherlands between 1970 and 2005. A crucial turning point was the rejection of a long debated plan for the introduction of serum screening for neural tube defects in 1988. Different social, medical, political and policy actors for various reasons formulated concerns about screening at the time. The outcome was an enduring emphasis on the criterion of treatability. The Population Screening Act, adopted in the 1990s, underlined that principle, stating that screening for diseases for which no treatment was available was subject to special licensing. Actual admittance of new programmes, such as screening for Familial Hypercholesterolaemia and expanded neonatal screening reflect the importance of the treatability criterion.

In the last two decades screening increasingly entails offering options, for instance concerning reproduction and life style, next to or instead of offering treatment. The question is whether with the growing possibilities for screening for multifactorial diseases the concept of treatability has transformed from a focus on therapeutic interventions to risk reduction interventions