Retinoblastoma is a form of eye cancer that affects children. Many cases happen randomly, but retinoblastoma can also be hereditary in families.
Retinoblastoma is caused by a change in a gene called RB1. If a family member carries this change, a child has a higher risk of developing the disease. Fortunately, if doctors know that a child has a high risk, they can screen for retinoblastoma and treat the disease more easily if they detect it early. But if it is caught late, treatment needs to be much more aggressive, and children may still lose one or both eyes. The RB1 gene is also linked to a number of other cancers, and people who have a change in this gene often develop other cancers later in life.
Researchers have recommended 2 stages of testing once a child is identified as high-risk. Genetic testing is important in identifying family members who have the genetic change, while screening in high-risk children is critical to making sure that these children get the best care and have the best possible results.
Retinoblastoma screening schedule should depend on individual risk
A group of doctors who specialize in retinoblastoma developed recommendations for screening in high-risk children. These recommendations apply to children in families that have had a retinoblastoma diagnosis, but have not necessarily had genetic testing. Their main goal was to provide personalized care based on individual risk to meet the needs of each child.
The doctors recommend that at-risk children should be screened regularly starting from birth, though screening can become less frequent as the child gets older. If genetic testing finds that the child does not carry a change in the RB1 gene, screening can end at 7 years old. However, if the child does have a change in the RB1 gene, screening should continue for the rest of the child’s life, not just for retinoblastoma, but also for the other cancers related to the gene.
In cancers like retinoblastoma that have a strong family connection, genetic testing is important. Having a good understanding of which family members carry the altered gene helps doctors to classify an individual’s risk. Children at the highest risk can be screened frequently, but children at lower risk can be spared this intense screening schedule.
For example, a child whose parent had retinoblastoma has a higher risk of developing the disease than a child whose aunt or uncle had the disease. They should both be screened, but the frequency of the screening might be different.
Genetic testing and screening are both critical
In retinoblastoma, genetic testing and screening go hand-in-hand. Genetic testing can help to inform the screening schedule and help ensure that children get the best possible care as early as possible. In fact, if a parent is known to carry a change in the RB1 gene, doctors can test whether a baby also carries the genetic change before he or she is even born.
Because of advances in research, treatments for retinoblastoma are effective and survival is high. Yet, if not found early, it still causes children to lose some or all of their vision. The doctors in this study hope that their recommendations will lead to a structured approach to genetic testing and screening that will help even more children at risk of this disease.
Eileen Hoftyzer, BSc, and Carolyn Goard, PhD