Kreuz, Friedmar R. 1
To carry out quality management of genetic counseling, it is important to know what genetic counseling exactly means and who the players are. The term “genetic counseling” was first defined by Reed in 1947. It describes a communication process dealing with genetic facts and psychosocial aspects and is an education process, too. It has always been understood in the context of individual and family problems, and is unrelated to eugenics. In 1975 the Ad Hoc Committee of the American Society of Human Genetics published a more detailed description. With the development of new diagnostic techniques and methods in human genetics, the requirements of genetic counseling and its contents changed. Today a genetic counselor has to apply diagnostic, predictive, susceptibility, pharmacogenetic, carrier, prenatal, and preimplantation testing, as well as genetic screening. The German Human Genetic Examination Act (Genetic Diagnosis Act – GenDG) and national and international associations recommend to embed genetic testing into genetic counseling. Based on experiences of the author, some examples of pitfalls in genetic counseling are illustrated, as there are so many individual situations and requests that it seems impossible to carry out quality management. Nevertheless, the Commission for Quality in Genetic Counseling and Clinical Genetics of the Professional Association of German Human Geneticists started a pilot ring trial in 2018 with a given counseling situation. The task was to write the human genetics comment with the help of a checklist containing all issues necessary. The evaluation was conducted with the help of a catalogue of criteria which had been established beforehand and a score adjusted to the individual situation. The first genuine pilot trial was launched in 2020. It represents a possibility for quality management in genetic counseling..
Keywords: genetic counseling; guidelines; psychosocial aspects; education process; quality management
- Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
- Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
- Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
- Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.
- MVZ Labor Krone, Filialpraxis für Humangenetik, Bielefeld, Germany.
- Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
- Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
- Core Facility Genomics, Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Berlin, Germany.
- Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
- Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
- Institut für Humangenetik, Westfälische Wilhelms-Universität Münster, Münster, Germany.
- CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
- Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.
- Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
- Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
- Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
- Research Group Structure and Function of Molecular Machines, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.
- Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany.
- Cluster of Excellence “Multiscale Bioimaging: From Molecular Machines to Networks of Excitable cells” (MBExC), University of Göttingen, Göttingen, Germany.
- DZHK (German Centre for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany.