OSLI Retina

January 2021

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6 Ophthalmic Surgery, Lasers & Imaging Retina | Healio.com/OSLIRetina Practical Retina Incorporating current trials and technology into clinical practice Genetic Testing Prevalence, Guidelines, and Pitfalls in Large, University-Based Medical Systems by Ashley E. Neiweem, MD, MHA; and Thomas A. Ciulla, MD, MBA Medical history was made in the fall of 2015 when Spark's SPK-RPE65 phase 3 U.S. Food and Drug Administration (FDA) registration trial showed gains in functional vision and light sensi- tivity in certain patients with inher- ited retinal dystrophies (IRDs) such as Leber's congenital amaurosis and reti- nitis pigmentosa. After more than a decade of work, the results represent the first success- ful randomized, controlled trial ever completed in gene therapy for a genetic disease in the United States. Since this land- mark approval, nu- merous trials are currently underway investigating the use of other gene therapies to treat a variety of IRDs. For this column, Ashley E. Neiweem, MD, MHA, and Thomas A. Ciulla, MD, from Indianapolis, Indiana, help to tackle a very important topic — genetic testing in IRD patients. They will provide an overview of genetic testing prevalence, review guidelines, and discuss pearls and pitfalls based on their vast experience. We are all aware of the obvious barriers to genetic testing, which include cost, complexity at various levels, and unfamiliarity. Numerous educational efforts are underway including those sponsored by the American Academy of Ophthalmology. Unmet needs in terms of education in this landscape will be reviewed in this article. We are grateful to Drs. Neiweem and Ciulla for generously sharing their extensive knowledge on this topic with our community. I am certain we will all find this piece very educational as it will allow us to better understand the salient issues surrounding genetic testing in retinal diseases. INTRODUCTION Inherited retinal dystrophies or degen- erations (IRDs) comprise a rare group of ge- netically and phenotypically heterogeneous diseases, ultimately involving progressive photoreceptor dysfunction and subsequent loss of vision. 1 Before advances in molecular genetics, patients with IRDs were diagnosed clinically, and before the advent of genetic clinical trials, ordering genetic testing per- haps was a costly endeavor that would not al- ter management. 2 However, increased under- standing of molecular and genetic pathways in IRDs has led to clinical trials with potential for targeted therapy, decreased photoreceptor degeneration, and improved visual function. 1 Enhanced understanding of genetic testing is increasingly important, as it can facilitate a definitive diagnosis, informing prognosis and management, as well as clinical trial oppor- tunities. Consequently, familiarity with genetic testing assumes increasing importance for the ophthalmologist. COMPLEXITY AS A POTENTIAL BARRIER TO ADOPTING GENETIC TESTING AND REFERRAL There are more than 260 genes involved in IRDs. 3 In addition to providing an accurate molecular diagnosis and identifying po- tential clinical trial opportunities and treatments, genetic testing can provide information about prognosis and assist in counseling of families, including family member risk assessment. Although only genetic testing can identify the causative gene mutation in IRDs, it may remain unfamiliar to many clinicians in medicine and in ophthalmology because of its complexity. Which patients Ashley E. Neiweem doi: 10.3928/23258160-20201223-02 Seenu M. Hariprasad Practical Retina Co-Editor Thomas A. Ciulla

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