Success and quality of medical counseling Theoretical and methodological questions regarding success criteria for medical counseling in the context of the further development of genetic diagnostic methods

Background: Technological developments in human genetics are leading to expanded possibilities in genetic diagnostics. This is accompanied by significantly improved information about the genetic causes of diseases, but also by the production of findings for which it is currently impossible to determine conclusively whether and to what extent they are or will be of clinical significance in the future. This complexity should be reflected in the legally established patient information and consent process for genetic diagnostics, but there are no evidence-based recommendations or guidelines on this subject.

Objectives: Within the framework of the Marsilius-Kolleg research project, our central goal can be summarized as follows: by combining perspectives from human genetics and social sciences, we aim to develop a basic module for a standardized survey instrument to assess the success of genetic counseling and to design recommendations and guidelines for genetic counseling. The focus is on the question of how comprehensive, concrete, and yet understandable information for the layperson should be designed for whole-genome testing, and by whom and how this should be carried out. In addition to legal and ethical questions that arise in this context and for which recommendations already exist, the question of what kind of guidelines are needed for this and what could be understood as successful information provision in this case has not yet been answered. We want to pursue this question systematically and across disciplines using theoretical and methodological approaches.

• Hempel, M. & S. Bär (2024): Richtig beraten. Patientenaufklärung und Beratung in der Humangenetik. In: Ruperto Carola Forschungsmagazin (23), S. 77–83. 

  https://doi.org/10.17885/heiup.ruca.2024.23.24945

• Bär, S. (2024): Kriterien einer guten Aufklärung im Kontext der sich zunehmend spezialisierenden, hoch technologisierten Humangenetik. In: Marsilius Kolleg Jahresbericht 2022/23 Bd. 24, S. 91–95.