Genetic testing as basis for screening of children at elevated risk for Retinoblastoma

Children who are at risk of developing retinoblastoma should receive genetic counseling and testing as soon as possible to clarify risk for the disease, as per the panel of leading ophthalmologists, pathologists and geneticists, who developed the first U.S. guidelines on how to screen for the most common eye tumor affecting children. The goal of these guidelines is to ensure that the ocular cancer is detected at the earliest, giving a chance to the ophthalmologists who deal with these patients the best chance to save lives and vision in these children.

Early detection of retinoblastoma is critical to achieving the best outcomes for vision and survival.

The experts recommend systematic screening of children at elevated risk because of family history of retinoblastoma, which has dual purposes:

1. to provide a method for detecting disease at the earliest possible stage, and
2. to focus care on the children at highest risk, while decreasing unnecessary evaluations for children at low or no risk above that of the general population. 

Genetic testing is important in risk-stratifying patients with a family history of retinoblastoma. Results may indicate a very high risk for disease, approaching 100% if an RB1 mutation is found, or alternatively, if negative, the child may be at population risk and no longer require dedicated ophthalmic screening. Because interpretation of RB1 genetic testing is complex, it is optimal to have a genetics professional involved in counseling families and interpreting test results.

The experts also comment that it is important to note that preimplantation and prenatal RB1 genetic testing via amniocentesis and preimplantation genetic diagnosis are available and may be desirable for families in whom the familial RB1 mutation is known. A discussion with a genetics professional during family planning can assist in determining an affected family’s desired approach to early testing.

The guidelines aim to create a structured approach to care in which expected risk based on familial relationship to the affected family member initially determines screening frequency for children, and genetic testing clarifies this risk. This approach allows clinicians to provide an immediate individualized care plan based on the expected risk for RB1 mutation for each child. The risk and thus the recommendations can then be further refined after genetic testing is completed.

The guidelines represent optimum goals for screening at-risk children. The experts acknowledge that limited access to pediatric anesthesia and genetic testing in many developing countries may limit or prevent adherence to these recommendations.

The goal of these screening guidelines is to educate primary care providers and ophthalmologists and to optimize care by creating a more uniform approach to care for children with family history of retinoblastoma, ensuring that children receive timely and appropriate genetic counseling, testing, and screening for familial retinoblastoma.

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