Prof. Helena Kääriäineni loeng:"Genetic counselling for everybody?" 5.detsembril 2016 OMICUMis
Title: "Genetic counselling for everybody?"
Time: 5.12.2016 at 10.15
Place: Riia 23 room 217
Genetic testing came to the clinic around the change of the century. It started from testing known mutations in a few rare diseases, developed to sequencing whole genes relating to a growing number of rare diseases and, today, the clinical routine is to sequence some tens of genes, gene panels, to find the cause of a certain phenotype. In all these situations, it has been the tradition to discuss the planned test with the patient/family beforehand (pre-test counselling) and explain the consequences of the possible findings afterwards (post-test counselling). The foreseen future approach will be to have wide sequencing, possibly whole genome, in the course of several if not all health care contacts. The idea is not to find rare mutations (even though this may occur) but to find variants for stratifying the diagnoses of common diseases. The patient would not be diagnosed as having high blood pressure but a certain subtype of it requiring a specific medication. Individual pre-and post-test counselling for all these individuals would be an impossible task. Thus new methods for informing the patients and whole population about the benefits and possible unwanted consequences of this type of genetic testing have to be developed.