June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Design and outcomes of a novel multidisciplinary ophthalmic genetics clinic
Author Affiliations & Notes
  • Bela Parekh
    University of Michigan Medical School, Ann Arbor, Michigan, United States
    Department of Ophthalmology and Visual Sciences, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
  • Adelyn Beil
    Department of Pediatrics, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
    Department of Human Genetics, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
  • Bridget Blevins
    Department of Ophthalmology and Visual Sciences, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
  • Jeffrey W Innis
    Department of Pediatrics, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
    Department of Human Genetics, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
  • Amanda Pritchard
    Department of Pediatrics, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
    Department of Human Genetics, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
  • Lev Prasov
    Department of Ophthalmology and Visual Sciences, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
    Department of Human Genetics, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
  • Footnotes
    Commercial Relationships   Bela Parekh None; Adelyn Beil None; Bridget Blevins None; Jeffrey Innis None; Amanda Pritchard None; Lev Prasov None
  • Footnotes
    Support  NIH funded T35 short term training program
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 3036. doi:
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    • Get Citation

      Bela Parekh, Adelyn Beil, Bridget Blevins, Jeffrey W Innis, Amanda Pritchard, Lev Prasov; Design and outcomes of a novel multidisciplinary ophthalmic genetics clinic. Invest. Ophthalmol. Vis. Sci. 2023;64(8):3036.

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

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Abstract

Purpose : The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. The team consists of an ophthalmic geneticist, pediatric medical geneticists, a genetic counselor, clinical coordinators, ophthalmic technicians, and electrophysiology support staff. Our hypothesis is that this clinic model improves patient outcomes and quality of care. Here, we report our experiences with this clinic since its inception in July 2020.

Methods : A cohort study using data from retrospective chart review of patients referred to the MOGC at the University of Michigan Kellogg Eye Center between July 2020 and October 2022 was performed. Clinical data including ophthalmic data and imaging, systemic medical history and testing, and genetic testing results were collected. Genetic testing was evaluated to assess uptake and to determine diagnostic yields for specific categories of diagnosis. Concordance between referral diagnosis and final diagnosis after genetic testing was evaluated. Diagnostic solve rates for clinical cases were compared to those utilized by other practices and other published results.

Results : The clinic sees referrals from ophthalmologists and geneticists for a wide variety of inherited ocular diseases and systemic genetic diseases; our most common referring diagnoses are anterior segment dysgenesis and microphthalmia. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our ophthalmic and medical genetics team followed by discussions on diagnosis, prognosis, and genetic testing. Recommended testing approach is further categorized as seen in Figure 1. Among this patient cohort, we saw uptake for genetic testing, either ordered by our clinic or previously completed, to be 70%. Reasons for deferral of genetic testing included patient deferral or delay (e.g., testing kits not returned), insurance coverage denial, and lack of indication.

Conclusions : The MOGC provides an interdisciplinary clinic for ophthalmic genetic care to patients with multisystem disorders with ocular features. It provides advantages over traditional clinics by providing ophthalmic care in conjunction with medical genetic counseling, as well as a wide array of genetic testing, to help in solving diagnostic challenges and aiding in novel genetic discoveries.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

 

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