Genetic counseling and testing clarify the risk for retinoblastoma in children with a family history of the disease and improve outcomes at reduced cost, justifying making testing available to all patients with a personal or family history of retinoblastoma.
‘Genetic testing allows clinicians to identify children at high risk for retinoblastoma, who need to be followed most closely for disease.’
Purpose of Genetic Screening
Systematic screening of children at elevated risk because of family history of retinoblastoma has dual purposes:
- To provide a method for detecting disease at the earliest possible stage.
- 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.
The guidelines presented 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 retinoblastoma for each child. The risk and thus the recommendations can then be further refined after genetic testing is completed.
Screening children early
Children who are considered to be at risk of developing eye cancer should receive genetic counseling and testing as soon as possible to clarify risk for the disease. The goal is to ensure retinoblastoma is detected at the earliest possible stage so ophthalmologists can save the lives and vision of more children.
Retinoblastoma in children
Retinoblastoma is a cancer that starts in the retina, the very back of the eye. It can also spread to other parts of the body, including the brain and bones. There are approximately 350 new cases diagnosed each year in the United States.
The disease primarily affects young children. It can be either hereditary or non-hereditary. Children with hereditary retinoblastoma often develop retinal tumors in both eyes within the first years of life. Early diagnosis, when tumors are small, improves the child's chance of survival and their chance of keeping their vision and their eyes.
Development of these guidelines began when ophthalmologist Alison Skalet, M.D., Ph.D., of the Casey Eye Institute in Portland, Ore., searched for an optimal screening strategy for her own patients and found little published guidance.
For the next two years, Dr. Skalet and Patricia Chévez-Barrios, M.D., ophthalmologist, and pathologist from Houston Methodist Hospital, led members of the American Association of Ophthalmic Oncologists and Pathologists, and a team of experts to devise guidelines1. The effort was also supported by the American Association for Pediatric Ophthalmology and Strabismus, the American Academy of Ophthalmology, and the American Academy of Pediatrics.
The guidelines address a knowledge gap among ophthalmologists and other health care professionals in the U.S. regarding risk for inherited retinoblastoma and best practices for screening examinations. It is anticipated that they will also influence care in other countries. Therefore, the guidelines were written to provide a general framework for care that can be modified based on local resources, and provider and parental preferences. The recommendations acknowledge pediatric anesthesia and genetic testing may be limited in many developing countries, preventing strict adherence. So, the guidelines offer direction in cases when these resources are unavailable.
Ophthalmologists say there are signs to look for that may indicate retinoblastoma. They include a white color in the pupil when a light is shone in the eye, such as when taking a flash photograph. Also, eyes that appear to be looking in different directions could be a sign of trouble. They encourage parents to make an appointment with their child's pediatrician if they notice any changes to their child's eyes.
- Alison H. Skalet et al. Screening Children at Risk for Retinoblastoma, Ophthalmologyhttp://www.aaojournal.org/article/S0161-6420(17)31784-0/fulltext