Retinoblastoma: genetic testing versus conventional clinical screening in India.
BACKGROUND
Genetic testing is increasingly being used to evaluate susceptibility to hereditary diseases because it is a cost effective screening method. Predictive testing for retinoblastoma can help to save the vision and avoid unnecessary (and invasive) eye examinations for probands and their close relatives. This study was undertaken to evaluate the cost effectiveness of the retinoblastoma genetic screening strategy established in our hospital.


METHODS
Cytogenetic study of peripheral blood, mutational, and methylation analyses from the tumor DNA of 25 patients with retinoblastoma was undertaken. The cost for retinoblastoma (RB1) gene screening was calculated based on the cost of the chemicals and consumables used and the clinical examination charges at our hospital. A comparison was made between the cost of genetic screening and clinical testing for retinoblastoma. Retinoblastoma patients underwent clinical management and genetic testing at Sankara Nethralaya, Chennai, India.


RESULTS
By adopting a genetic screening strategy, a 3.5-fold cost saving was seen for a proband while a 6-fold saving was seen for a family with two sibs compared to the cost of clinical examination. The clinical examination fee and cost of genetic screening for a proband was dollarUS536 and dollarUS152, respectively, while for a nuclear family with two sibs the costs were dollarUS1071 and dollarUS175, respectively.


CONCLUSIONS
Savings for a family will be higher if indirect costs, such as savings in travel times to and from the hospital and labor savings, were taken into account. Cost will be a major factor in determining the implementation of genetic screening for RB1 gene in the clinical practice.


CONCLUSIONS
In our study in India, genetic screening for retinoblastoma was cheaper than conventional screening and was useful in the genetic counseling of the families.
Joseph
Biju
B
SN ONGC, Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.
Shanmugam
Mahesh Palanivelu
MP
Srinivasan
Madhuravasal Krishnan
MK
Kumaramanickavel
Govindasamy
G
D002675:Child, Preschool; D003362:Cost-Benefit Analysis; D003941:Diagnostic Techniques, Ophthalmological / Q000191:economics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics*; D006801:Humans; D007194:India; D010375:Pedigree; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics; D016160:Retinoblastoma Protein / Q000235:genetics
D016160:Retinoblastoma Protein