Plunging into the Gene Pool

Tuesday, November 29, 2011 by Thomas Rogers

A recently released study by physicians at Baylor College of Medicine suggests that genetic evaluation become a routine aspect of retinoblastoma care, as it identifies at-risk relatives and eliminates the need for other family members, especially infants, to undergo unnecessary, anesthesia-induced eye examinations to screen for tumors.

The results of the report, published in the November 2011 issue of the Archives of Ophthalmology, were culled during an eight-year period of genetic testing and evaluation of retinoblastoma patients at Texas Children’s Cancer Center in Houston.

In making genetic evaluation part of routine retinoblastoma care, physicians are more able to determine if the cancer is an inherited disease, known as bilateral retinoblastoma. Bilateral retinoblastoma is frequently identified in infants and younger children, and may affect one or both eyes. Knowing if the retinoblastoma is inherited allows physicians to determine if a patient is at-risk, in the future, for other types of cancers. Unilateral retinoblastoma typically happens in older children, can be inherited or not inherited, and affects only one eye.

In the United States, retinoblastoma is the most prevalent form of malignant eye tumor in children. Approximately 350 babies and children are affected by the malady, which is curable, but can lead to the loss of an eye.

The report documented a multi-discipline team approach that included ophthalmologists, pediatric oncologists, pathologists, geneticist and genetic counselors.

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