• Science and Technology Studies
• Sociology of Knowledge, Especially Sociology of Ignorance and Forgetting
• Biopolitics, Biomedicine, and Bioethics
• Sociological Theory, Social Theory, and Critical Sociology
• Environmental Sociology

Concluded Research Project

The research project investigates whether and to what extent a new biosocial identity and category of what are known as heterozygous carriers of recessively inherited genetic conditions is currently emerging from the interplay of genetic knowledge, novel biomedical technologies, scientific and political discourses, and commercial offers of carrier screening. Recently, technological progress in the field of gene and genome analysis has made it possible to test in a single procedure and at low cost for several hundreds of genetic traits associated with recessive conditions (“expanded carrier screening"). Thus this under-investigated form of being a carrier of genetic mutations, which has not so far attracted much attention from sociologists, is becoming increasingly important for discussions in medicine, health policies and bioethics, and also for commercial providers of such expanded screening tests. It now seems likely that unknowingly, and without themselves being at risk of developing symptoms, most humans are heterozygous carriers of an estimated average number of three to six recessively inherited disease mutations, linked with a 50 percent chance of passing these on to their children. Expanded carrier screening therefore targets all couples who wish to have children and offers them, “ideally" even prior to pregnancy (“preconceptionally"), the opportunity to find out whether both of them are carriers of the same recessive mutation associated with a genetic condition. In this case there would be a 25 percent chance for each of their children of inheriting this mutation from both parents.

If carrier screening is done prior to pregnancy, couples will have a number of options (ranging from not having children at all to preimplantation genetic diagnosis) to prevent the birth of an affected child. The project aims at analysing how the relatively new figure and identity of the “carrier" is shaped by the ascription of specific risks, hopes, options and responsibilities to carriers in medical, bioethical and health policy discourses as well as in commercial “direct-to-consumer" offers on the internet. In addition, using semi-structured interviews, the project is exploring why and how far individuals and couples might be motivated to acquire knowledge of their recessive genetic traits and to what extent they might understand themselves as “carriers", leading them to behave according to this self-perception. With these objectives, the project is able to substantially contribute to a more nuanced understanding of the social implications and effects of genetic knowledge and biomedical technologies, to the sociological analysis of practices of knowing and not-knowing, and to the emerging public debates on the potential risks and benefits of an essentially novel form of genetic diagnosis with possibly far-reaching consequences.

Further Information

Concluded Research Project (funded by BMBF, 07/2013 to 04/2015)

The research project, which has now been completed, dealt with the presumed social effects from a sociological perspective as well as the different evaluations of a new type of genetic diagnostics, genetic asset screening. In this project, couples who wish to have children are tested for the genetic carrier for up to 600 recessively inherited rare diseases or disabilities ("pre-conceptional"), if possible before pregnancy, with the aim of finding out whether they have a common carrier for one of these diseases. In this case, the children of the couple would be at up to 25% risk of being affected by that disease or disability. Diagnostics offers future parents the opportunity to avoid the birth of a child with a health impairment, either by taking advantage of reproductive medical services (prenatal diagnostics and possibly abortion, pre-implantation diagnostics, sperm donation) or by giving up children or adoption.

There is some evidence to suggest that the introduction and possibly widespread use of such diagnostics would have far-reaching social consequences; these could range from societal pressure of expectation to take advantage of the test offer and use it for "prevention", to altered self-perceptions as an "investment vehicle" or even "geneticised" forms of partner selection. In addition to the possible social implications of screening for genetic carriers, qualitative interviews were conducted to assess the new genetic diagnostics, with particular emphasis on the views of people with rare diseases and their self-help organisations.