Valutazione dell’attività di un servizio di genetica clinica: problemi e prospettive

The activity of the Clinical Genetics Centre of University of Sassari (already operating in different diagnostic cytogenetics areas), has been implemented over the years. Genetic counseling, performed by this Centre, was initially aimed to provide counselling pre-test on the routine analyses and post-test in pathological cases. From 2008 year, an activity of clinical genetics evaluation was organized in this Centre. Following the guidelines, the clinical genetics service proceeded to: a) organize an ambulatory for clinical-morphological evaluation of the patients; b) create some clinical folders diversified according to diagnostic hypothesis; c) construct a database to collect clinical and personal data; d) organize a network of national level with various genetic structures.In the last 4 years were performed 2184 counselings divided into preconceptional, prenatal and postnatal (for child and for adult). The analysis of data collected allows to evaluate the developed activity, to underline critical points and to consider the importance of genetic counseling also in research activity. Different cases of scientific interest emerged after a thorough investigation suggested by the genetic counseling: among all, will be described 1 case of Xanthomatosis Cerebrotendineous and some cases of familial hypercholesterolemia. From the present study emerges the necessity to convert the genetic counselling in clinical genetics evaluation.