June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
The diversity of genetic testing platforms for inherited retinal diseases
Author Affiliations & Notes
  • Debarshi Mustafi
    Ophthalmology, University of Washington, Seattle, Washington, United States
    Ophthalmology, Seattle Children's Hospital, Seattle, Washington, United States
  • Jennifer R Chao
    Ophthalmology, University of Washington, Seattle, Washington, United States
  • Footnotes
    Commercial Relationships   Debarshi Mustafi None; Jennifer Chao None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 135 – A0315. doi:
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      Debarshi Mustafi, Jennifer R Chao; The diversity of genetic testing platforms for inherited retinal diseases. Invest. Ophthalmol. Vis. Sci. 2022;63(7):135 – A0315.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : To evaluate genetic testing platforms used to aid in the diagnosis of inherited retinal degenerations (IRDs). As clinical trials for other IRDs progress to treatment, genetic testing will be essential to properly identify patients who may benefit from intervention.

Methods : Data collected regarding targeted genetic panel testing for IRDs offered by different labs were investigated for inclusion of coding and non-coding variants in disease genes. Both large IRD panels and smaller, more focused disease specific panels were included in the analysis. The list of genes assayed by each IRD panel as well as inclusion of any non-coding variants was documented. The genomic location and name of each disease gene was documented across each panel. If non-coding variants were tested it was documented for the gene in question. This curated list was then compared to examine overlapping and unique genes across testing platforms.

Results : Across the three comprehensive IRD panel tests investigated, 404 unique genes are represented, of which 258 genes are tested by all three panels. The top 20 genes known to cause over 70% of all IRDs were represented in the 258 common genes tested by all three panels. In addition, 138 non-coding variants are assayed across the three platforms in 50 unique genes. Focused disease specific panels exhibited significant variability across the 5 testing platforms studied.

Conclusions : Ordering genetic testing for IRDs is not straightforward, as evidenced by the multitude of panels available to providers. It is important that there is coverage of both coding and non-coding regions in IRD genes to offer a diagnosis in these patients. This work details the diversity of testing platforms currently available to clinicians and provides a thorough explanation of genes tested in the different IRD panels. More importantly, this analysis highlights the commonalities and differences that separate these tests. In a time of increased importance for clinical genetic testing of IRD patients, knowledge of the proper test to order is paramount.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.


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