It is a tragic disease which can lead to blindness and death and affects one in twenty thousand children. The molecular diagnostic process which initially involves a search for the RB1 gene mutation in blood samples is vastly more simple and humane than its conventional counterpart which consists of multiple clinical and anaethesized examinations for each relative during the first three years of life. Dr. Brenda Gallie, a principal investigator with the Canadian Genetic Diseases Network and a member of the research team affiliated with the University of Toronto, the Hospital for Sick Children, and ERIC anticipates that the molecular route will be preferred by families as well as the healthcare system. We can therefore concentrate our healthcare resources on those children who are at risk for this cancer. She added that early diagnosis through molecular screening and subsequent clinical vigilence can help in preventing blindness or the need for surgery, radiotherapy, or chemotherapy.
Effective therapy is available to treat retinoblastoma tumors when they are discovered early.
The study concludes that, although the cost analysis benefits of the molecular strategy for identification of mutations in the RB1 gene seem clear, for other disease genes the particular situation must be individually evaluated in terms of current technology, clinical care, and treatment outcomes.