June 2015
Volume 56, Issue 7
ARVO Annual Meeting Abstract  |   June 2015
Genetic Testing in an Inherited Retinal Dystrophy Clinic
Author Affiliations & Notes
  • Kari E Branham
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • Dana Schlegel
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • Naheed W Khan
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • Thiran Jayasundera
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • John R Heckenlively
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI
  • Footnotes
    Commercial Relationships Kari Branham, None; Dana Schlegel, None; Naheed Khan, None; Thiran Jayasundera, None; John Heckenlively, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 3843. doi:
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      Kari E Branham, Dana Schlegel, Naheed W Khan, Thiran Jayasundera, John R Heckenlively; Genetic Testing in an Inherited Retinal Dystrophy Clinic. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):3843.

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

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Purpose: To investigate the effectiveness of the Kellogg Eye Center's Retinal Dystrophy (RD) Clinic in providing a molecular diagnosis to our cohort of patients.

Methods: Comprehensive clinical care, including clinical examination, diagnostic testing, genetic counseling, and genetic testing was provided to all patients. Genetic testing was performed through fee-for-service (FFS) clinical testing labs, research studies, and the eyeGENE research project at the National Eye Institute. A database review was performed on patients seen from 2004-2014 who were evaluated in the RD Clinic. Information was recorded on diagnosis, laboratory choice, if insurance authorization was obtained, test ordered, and outcomes of testing.

Results: Samples from 224 patients were sent to FFS labs, 500 samples were sent eyeGENE, and several hundred additional samples were sent to collaborative research studies. For patients sending their samples to FFS labs, we attempted to obtain prior authorization from insurance companies for 103 patients, and 54(52%) were approved. The primary reasons for denial were that the either the testing was considered “experimental" or that the results “would not alter medical management.” Additional patients elected to proceed with testing without first seeking prior authorization. Of the 224 samples sent to FFS clinical testing labs, 116(52%) patients had the genetic basis for their disease identified and the remainder were negative or inconclusive. Of the 500 samples sent to eyeGENE, we received results on 369 and 181(49%) had the causative gene identified. Additionally, 170 mutations were identified in retinal dystrophy research labs. Some individual disease categories (such as Usher Syndrome) had detection rates as high as 80% using new panel based technologies. In total, we have obtained positive results on 467 patients.

Conclusions: Successful genetic testing for RD patients has reached a level of effectiveness that it appropriate to order tests on all genetically undiagnosed RD patients. Despite the effectiveness of the test, due to lack of insurance coverage, FFS testing is not accessible for all patients. Identification of the causative gene is essential to understand the underlying disease mechanisms, confirm the clinical diagnosis,confirm inheritance, and enroll patients in clinical trials. Because of the successful identification of patients’ RD mutations, our patients have enrolled in four trials for molecular-based therapies.


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