Heritable Retinoblastoma

Who should undergo genetic testing for heritable retinoblastoma?

You should consider genetic testing if you meet one or more of the following criteria:

• Diagnosis of retinoblastoma at any age
• A family history of retinoblastoma
• A previously identified faulty RB1 gene in a family member

How can your genetic test result help you / your family?

The genetic test result can help determine if the retinoblastoma is heritable or not.

1. Medical implications
   If heritable, it will guide screening for other cancers you may be at risk for.

2. Familial implications
   Your genetic test result can also help you understand if other family members are at risk of heritable retinoblastoma. They can subsequently consider their own testing (predictive testing) to clarify their carrier status to determine tumour and cancer risks.
   
   Family members who have inherited the same faulty RB1 gene may be at increased risk of tumours and cancer and can benefit from management options such as screening (to detect tumours and cancer at an early and manageable stage).
   
   Family members who did not inherit the faulty RB1 gene can avoid unnecessary screening and worry. Their children will also not be at risk.
   

3. Family planning
   Individuals with a faulty RB1 gene can also consider reproductive options and antenatal screening when planning a pregnancy/family.