Research carried out by experts in the US may lead to the formulation of new therapies for retinoblastoma, a rare form of eye tumour that can cause blindness and death if not treated.
According to a report in the Archives of Ophthalmology, one of the JAMA/Archives journals, integrating genetic testing into the management of retinoblastoma by using a multidisciplinary team approach could lead to timely evaluation of patients.
In addition, it could ensure that all members of the patient"s healthcare team are aware of genetic implications with regard to cancer risk, the authors state.
In the study, Dr Shweta Dhar, of Baylor College of Medicine, Houston, Texas, and colleagues described outcomes associated with a comprehensive approach to provide genetic testing and counselling for patients with retinoblastoma using a multidisciplinary team of paediatric oncologists, ophthalmologists, a geneticist, and genetic counsellors.
The study included data collected over an eight-year period from patients diagnosed with retinoblastoma at Texas Children"s Hospital and involved evaluating 90 cases during the study period, 81 of whom were diagnosed with retinoblastoma and nine who were children evaluated because of family history of retinoblastoma.
Overall, genetic testing of 48 at-risk family members from 21 families revealed six individuals positive and 42 negative for the familial mutation of the RB1 gene, which has been linked to some cases of retinoblastoma.
As a result, the experts suggested that performing genetic testing of retinoblastoma patients followed by testing their at-risk family members may eliminate the need for additional testing in the majority of relatives and identify the few high-risk relatives who need intensive screening.
"In conclusion, this study has demonstrated that a multidisciplinary approach has a significant effect on the management of retinoblastoma. Our study emphasises that genetics can be incorporated into the management plan of all retinoblastoma patients using a team approach to ensure timely evaluations and appropriate counselling," the authors stated.
by Emily Tait