MOLECULAR DIAGNOSTICS FOR CHILDHOOD EYE CANCER CAN PROVIDE SIGNIFICANT SAVINGS IN HEALTH CARE COSTS

Toronto - August 1, 1996: Research supported in part by the Canadian Genetic Diseases Network and published today in the American Journal of Human Genetics indicates that molecular diagnostics can save the Canadian health care system over seventy percent of the cost of the conventional screening process for the childhood eye disease retinoblastoma.

Retinoblastoma is a cancer of the retina which is often present at birth or may develop in the first 4 years of life. It is a tragic disease which can lead to blindness and death and affects one in twenty thousand children.

Scientists at the University of Toronto, the Hospital for Sick Children, the Eye Research Institute of Canada (ERIC), and the Toronto Hospital evaluated direct health care costs for the two approaches and found that the average cost of conventional screening for seven at-risk relatives was approximately $31,000 compared with $8,600 for the molecular strategy. 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.

"Children found not to have the mutation can be spared the frequent, invasive, and stressful ophthalmological examinations while those with mutations found to be at high risk of developing tumors can be closely monitored" she explained. "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.