Diagnostic PCR for retinoblastoma: pros and cons of genetic testing

The Polymerase Chain Reaction (PCR) and related gene analysis techniques, such as mutation screening methods and DNA sequencing, have become an essential part of both basic research and clinical routine. However, the continuous flow of new discoveries in this field, especially aimed at improving the sensitivity of the PCR procedure and its applicability to the clinical routine, has largely contributed to the almost complete lack of standardisation and quality control, and great variability in the procedures used in different laboratories still remains. While this may not be a major issue for people involved in basic research, the routine application of PCR to the genetic counselling in retinoblastoma urgently requires a serious effort toward standardisation and quality control application to the PCR protocols to be used. Some interesting aspects of our experience with PCR applications in genetic counselling for retinoblastoma are reported in this I paper.