title: IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing.
abstract: The molecular diagnosis of retinal dystrophies (RD) is difficult because of genetic and clinical heterogeneity. Previously, the molecular screening of genes was done one by one, sometimes in a scheme based on the frequency of sequence variants and the number of exons/length of the candidate genes. Payment for these procedures was complicated and the sequential billing of several genes created endless paperwork. We therefore evaluated the costs of generating and sequencing a hybridization-based DNA library enriched for the 64 most frequently mutated genes in RD, called IROme, and compared them to the costs of amplifying and sequencing these genes by the Sanger method. The production cost generated by the high-throughput (HT) sequencing of IROme was established at CHF 2,875.75 per case. Sanger sequencing of the same exons cost CHF 69,399.02. Turnaround time of the analysis was 3 days for IROme. For Sanger sequencing, it could only be estimated, as we never sequenced all 64 genes in one single patient. Sale cost for IROme calculated on the basis of the sale cost of one exon by Sanger sequencing is CHF 8,445.88, which corresponds to the sale price of 40 exons. In conclusion, IROme is cheaper and faster than Sanger sequencing and therefore represents a sound approach for the diagnosis of RD, both scientifically and economically. As a drop in the costs of HT sequencing is anticipated, target resequencing might become the new gold standard in the molecular diagnosis of RD.
authors.affiliation: IRO, Institute for Research in Ophthalmology, 64 Avenue du Grand-Champsec, 1950, Sion, Switzerland, daniel.schorderet@irovision.ch.
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: Maude
authors.initials: M
authors.lastname: Bernasconi
authors.forename: Leila
authors.initials: L
authors.lastname: Tiab
authors.forename: Tatiana
authors.initials: T
authors.lastname: Favez
authors.forename: Pascal
authors.initials: P
authors.lastname: Escher
mesh_terms: D003365:Costs and Cost Analysis; D005820:Genetic Testing / Q000191:economics / Q000295:instrumentation / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics / Q000295:instrumentation / Q000379:methods*; D006801:Humans; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000191:economics / Q000295:instrumentation / Q000379:methods