How should I approach genetic counseling for families affected by Gaucher disease?

Approach to Genetic Counseling for Families Affected by Gaucher Disease

Genetic counseling for families affected by Gaucher disease should be conducted by healthcare professionals with appropriate training in genetics to ensure comprehensive pre-test counseling and informed consent is obtained before any genetic testing is performed.

Testing should ideally begin with an affected family member to identify the specific pathogenic variant causing Gaucher disease in that family, which then allows for accurate cascade testing of at-risk relatives.

Genetic counseling should include discussion of the inheritance pattern of Gaucher disease (autosomal recessive), the implications of carrier status, the likelihood of passing the pathogenic variant to offspring, and the potential clinical outcomes for affected individuals.

Families should be informed about the possible results of genetic testing, including positive, negative, and variants of uncertain significance, and the implications of each for family planning and management.

Ongoing support and the option for future review should be offered, especially if no clear genetic diagnosis is initially found.

Referral to specialist genetic clinics or genetics services is recommended for detailed risk assessment, testing, and counseling.