Retinoblastoma (Rb) is a cancer of the eye and arises due to loss of RB1 gene function. It is the most common eye tumor in children and has an incidence rate of 1:20,000. In the United States ~300 new cases/year and is well managed through genetic testing, counselling and treatment. India ~1500 Rb cases/year are observed.
Retinoblastoma can be either hereditary (25-30%) or sporadic (75-70%). Rb cases are more often found in socio-economically disadvantaged families in India. RB1 genetic testing is a medical necessity for surveillance and treatment decisions. However, genetic testing for Rb, usually done abroad, costs between 2000 to 4000 USD and is not affordable to many in India. In many cases, the children are presented much after the onset of Rb and often the eye has to be removed to save the life of the child. Also, currently, the parents with children who have Rb are not tested. Such testing will help manage the disease through counselling, early monitoring, detection and treatment of newly conceived children by carrier parent. It will also have implications for treatment and monitoring of a younger sibling of affected individuals.
In partnership with Narayana Nethralaya (NN), a premier eye hospital in Bangalore, Karnataka, where Rb cases are treated, SGRF plans to provide access to affordable RB1 testing for patients and families.
MedGenome, a genetic testing company in India, will be partner to SGRF and will help establish an RB1 test that will cost ~USD 250. SGRF working with donors will raise money needed to subsidize RB1 testing for families that need economic assistance. In 2014 Phase I of the testing program we will screen all the 20-30 patients and their families (proband, parents and siblings) for RB1 mutation We plan to double the testing in 2015 and increase the testing to cover all Rb cases in India by 2017/18.
Should you wish to contribute to this project and support it, please contact us.