Everything you wanted to know about clinical genetics, but were afraid to ask.

Department:      Genetics, section clinical genetics

Supervisors:     Rolf H. Sijmons, MD PhD, clinical geneticist 
                     Roel Hordijk, MD, clinical geneticist
                     Jan C. Oosterwijk, MD PhD, clinical geneticist, head of Clinical Genetics Section

In the fast world of molecular biology, DNA-profiling and anything-omics we tend to forget that clinical genetics is a medical specialty, a profession, a craft. Of course the rapid application of molecular discoveries in medicine is important. But so are adequate family history taking, syndrome recognition in dysmorfology and correct risk communication and counselling. Whether you become a psychiatrist, dentist, plastic surgeon, general practitioner oncologist, paediatrician or cardiologist: genetics is here to stay. Therefore, knowing how to apply the basic skills of a clinical geneticist is important for most, if not all physicians. We therefore choose three topics for this highly interactive workshop, given by three experts in the field. The first session is called: ‘Landscape, not portrait!’ and deals with interpretation of family histories, how to draw something like a pedigree and how to interpret the patterns that emerge, when you draw them correctly. Because you will do the drawing yourselves, interactively.  

The second session is called: ‘A nose, is a nose, is a nose’, and will present you with a large number of pictures of faces of patients with recognizable syndromes. We won’t make it into a quiz, but there will be a lot of interaction: which morphology is normal, what are dysmorphic features and when should you consider it likely to be a ‘syndrome’? The third session is called: ‘Risky business’ and will go into how genetic chances or risks are calculated and, just as important, how they should be communicated. We should try and speak the language of our patients, for they are the ones that have to make well informed choices. We will do some practicing, but don’t bring your pocket calculator, the calculus is easy once you get the message.