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A computer-assisted method for pathogenicity assessment and genetic reporting of variants stored in the Australian Inherited Retinal Disease Register

  • Emily Huynh
  • John De Roach
  • Terri McLaren
  • Jennifer Thompson
  • Hannah Montgomery
  • Caitlyn Kap
  • Ling Hoffmann
  • Tina Lamey
Technical Paper

Abstract

The assignment of pathogenicity to variants suspected of causing an inherited retinal disease and the subsequent creation of molecular genetic reports sent to clinical geneticists and ophthalmologists has traditionally been time-consuming and subject to error and ambiguity. The purpose of this paper is to describe a computer-assisted method we have developed for (1) assessment of the predicted pathogenicity of genetic variants identified in patients diagnosed with an inherited retinal disease and (2) the incorporation of these results into the Australian Inherited Retinal Disease Register and DNA Bank’s databases, for the production of molecular genetics reports. This method has significantly accelerated the assessment of variant pathogenicity prediction and subsequent patient report generation for the Australian Inherited Retinal Disease Register and DNA Bank, and has reduced the potential for human error. The principles described in this paper may be applied in any situation where genetic variants and patient information are stored in a well-organised database.

Keywords

Pathogenicity prediction Genetic analysis Molecular genetics report Inherited retinal disease 

Notes

Acknowledgments

Retina Australia, Retina Australia (WA) and Retina Australia (SA) funded the development of the Australian Inherited Retinal Disease Register and DNA Bank. The authors gratefully acknowledge the assistance of the Western Australian DNA Bank (supported by a National Health and Medical Research Council (NHMRC) Enabling Facility grant), the electrophysiology staff and reporting ophthalmologists, Jane Khan and Steve Colley, of the Visual Electrophysiology Clinic in the Department of Medical Technology and Physics (DMTP), Sir Charles Gairdner Hospital (SCGH). The continued support of the Head of Department of DMTP, Roger Price, is gratefully acknowledged. Significant contributions were made by staff of the SCGH Eye Clinic and the Lions Eye Institute. Ongoing support is also provided by the Centre for Research Excellence grant for Translation of Genetic Eye Research, and by a Western Australian State Health Research Advisory Committee grant.

Compliance with ethical standards

Conflict of interest

Emily Huynh, John De Roach, Terri McLaren, Jennifer Thompson, Hannah Montgomery, Caitlyn Kap, Ling Hoffman and Tina Lamey declare that they have no conflicts of interest.

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Copyright information

© Australasian College of Physical Scientists and Engineers in Medicine 2015

Authors and Affiliations

  • Emily Huynh
    • 1
    • 2
  • John De Roach
    • 1
  • Terri McLaren
    • 1
  • Jennifer Thompson
    • 1
  • Hannah Montgomery
    • 1
  • Caitlyn Kap
    • 1
  • Ling Hoffmann
    • 1
  • Tina Lamey
    • 1
  1. 1.Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and PhysicsSir Charles Gairdner HospitalPerthAustralia
  2. 2.Centre for Ophthalmology and Visual ScienceUniversity of Western Australia/Lions Eye InstitutePerthAustralia

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