Delivering it: retinitis pigmentosa

Purpose Current technologies for delivering gene testing through conventioinal Sanger sequencing are labour‐intensive and expensive. Over recent years, high‐throughput DNA sequencing techniques (next generation sequencing; NGS) have been successfully implemented in a research context. This presentation discusses the use of using in a clinical service context. Methods We have applied NGS of 105 genes to patients known to be affected by inherited forms of blindness. This is delivered in the setting of a UK National Health Service accredited diagnostic molecular genetics laboratory. The presentation will discuss the ability of an NGS protocol to identify likely disease‐causing genetic variants. Results Conventional testing is applicable to the minority of patients with inherited retinal disease and identifies mutations in fewer than one in four of those patients tested. The current NGS assay is directed at all patients with such disorders and identifies disease‐causing mutations in 50‐55% a dramatic increase. Conclusion An NGS approach delivers a step change in the diagnosis of inherited retnial disease and provides precise diagnostic information and extends the possibility of targeted treatments including gene therapy. Importantly it is likely that this approach will develop rapidly in the near future.