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Genetic testing can help child cancer care

Report of a story in the news   |   By Rebecca Bazeley   |   Published 12 December 2011

Source: Medical Express

The important role of genetic evaluation in tackling the childhood cancer retinoblastoma has been documented by a group of US physicians in the Archives of Ophthalmology..

Retinoblastoma takes two forms – bi-lateral (both eyes are affected), which is usually inherited, and unilateral (one eye is affected), which may or may not be hereditary.  The multidisciplinary team of ophthalmologists, paediatric oncologists, pathologists, geneticist and genetic counsellors tested retinoblastoma patients attending the Texas Children's Cancer Center. The heritable forms of the disease were found in 90% of patients with bilateral retinoblastoma and 17% of those with unilateral retinoblastoma.  Relatives of those with the heritable mutation were identified as ‘at-risk’ and put forward for genetic test. Relatives of patients who did not have the heritable form of the disease did not require further investigation. Of the 46 who went on to be genetically tested, only six were found to have the mutation, requiring follow-up screening by an ophthalmologist.


Using genetic testing to see whether the patient has a heritable retinoblastoma mutation can inform long-term management of affected children and their families, by more effectively targeting screening for retinoblastoma and related tumours to those who need it most. 

Keywords: Cancer Services
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