[Difficulties of genetic counselling in rare, mainly neurogenetic disorders]
Emese Horváth1, Nikoletta Nagy1, Márta Széll1
1Szegedi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Szeged Somogyi Béla u. 4. 6720.
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.
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