REPORTSJohn De Roach, Emily Huynh, Terri McLaren,Hannah Montgomery, Caitlyn Kap, Ling Hoffmann,Tina Lamey

Purpose: A method was developed for (a) thecomputer-assisted assessment of the pathogenicity ofvariants, and (b) the incorporation of these resultswith participant information contained in the Austral-ian Inherited Retinal Disease Register and DNA Bank(AIRDR) to automate the production of moleculargenetics reports.

Methods: A software suite was created which takesgenetic variants of interest and sequentially formatsinput data for and extracts output data from commonlyused public domain websites and commercial softwarepackages, resulting in pathogenicity assessments of thevariants. A manual literature search is then carried out,resulting in a Microsoft WORD document describingthe effects of the variant. The software suite thenmerges the results of the above steps with AIRDRparticipant information to produce an addressedmolecular genetics report, ready for authorising.

Results: This method has significantly acceleratedvariant pathogenicity assessment and patient reportgeneration for the AIRDR, and has reduced the poten-tial for human error through the obviation of therequirement to manually enter the same informationinto various websites, databases and documents, or tomanually transcribe the output of one step of theprocess to a subsequent step.

Conclusion: A system has been developed that takesa patient’s DNA variant information and produces amolecular genetics report, including a pathogenicityassessment of the identified variant(s), with minimalmanual input. While the generation of moleculargenetics reports is specific to the AIRDR’s data struc-tures, the automated interrogation of websites andprograms for assignment of variant pathogenicity ismore generally applicable.