[Difficulties of genetic counselling in rare, mainly neurogenetic disorders]. / Genetikai tanácsadási nehézségek ritka, foként neurogenetikai kórképekben.

ABSTRACT

INTRODUCTION: In recent decades methods used for the investigation of the genetic background of rare diseases showed a great improvement. AIM: The aim of the authors was to demonstrate difficulties of genetic counselling and investigations in case of five rare, mainly neurogenetic diseases. METHOD: During pre-test genetic counselling, the disease suspected from the clinical symptoms and the available genetic tests were considered. During post-test genetic counselling, the results of the genetic tests were discussed. RESULTS: In three of the five cases genetic tests identified the disease-causing genetic abnormalities, while in two cases the causative abnormalities were not identified. CONCLUSIONS: Despite a great improvement of the available genetic methods, the causative genetic abnormalities cannot be identified in some cases. The genetic counsellor has a key role in the assessment and interpretation of the results and in helping the family planning.