Gaucher's disease: Genetic counselling and population screening

Genetic counselling for Gaucher's disease requires a comprehensive approach, including accurate diagnosis at both the enzymatic and molecular levels, and assessment of disease severity. These goals are particularly challenging given the great allelic and phenotypic heterogeneity encountered in this disorder. Counselling should address the specific concerns of the counsellee, which may be related to evaluation of an affected person, or to reproductive options in couples at risk. Advances in both diagnosis and treatment have led to increased ascertainment of cases and carriers through population based screening, rather than through affected probands, raising new ethical and medical dilemmas. This chapter outlines practical issues in counselling for the various forms of Gaucher's disease, based on current data and experience.