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Constructing medical test results

The social shaping of genetic results and their (un)certainty
PhD ceremony:J. el Mecky, MSc
When:March 08, 2023
Supervisors:prof. dr. I.M. (Irene) van Langen, prof. dr. A.M. Lucassen
Co-supervisors:dr. M. (Mirjam) Plantinga, dr. K. Lyle
Where:Academy building RUG
Faculty:Medical Sciences / UMCG

Medical tests and the ensuing results play an important role within the processes of diagnosing, treating, monitoring, and predicting health and illness. This thesis addresses the topic of how medical test results come into existence. Medical test results are more than just the data produced by testing technologies; they are shaped through sociocultural processes and interwoven with the social context of those performing the test, as well as those who are being tested. I explore the coexistence between the social, the biological, and the technological by investigating how testing technologies, users, and their contexts interact to produce test results. 

To explore this topic, I use the genetic clinic as a case study, a medical service that attempts to identify genetic factors that underlie or contribute to a wide range of conditions, such as cancer, heart problems, and neurodegenerative disease. This is a relevant case study because the field of clinical genetics is evolving rapidly. New genetic testing technologies  are increasingly applied across different fields of medicine. In comparison to older genetic technologies, these new technologies generate a vast amount of genetic data that is more difficult to interpret in terms of why someone has developed a particular medical condition or whether they are at risk of developing a condition in the future. This complicates the nature of genetic test results: specifically which of these data should become part of a genetic test result and how should their meaning, including their certainty or uncertainty, be defined?