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Alcina Lidder, Yasha Modi, Vaidehi S Dedania, Scott E Brodie; DNA testing for inherited retinal disease (IRD): Initial experience with the SPARK/Invitae ‘ID your IRD’ genetic testing panel. Invest. Ophthalmol. Vis. Sci. 2021;62(8):1539.
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To evaluate the diagnostic yield and clinical impact of the SPARK/Invitae gene panel in patients with known or suspected inherited degenerative retinal disease, in comparison with traditional clinical assessments.
Patients of the authors’ clinical practices obtained genetic screening at no charge via the SPARK/Invitae “ID your IRD” genetic testing panel, which ranged from 248 genes to 293 genes. Over 16 months, tests were submitted for 87 patients and results were available for 70 patients. Clinical diagnoses prior to submitting the gene panel included retinitis pigmentosa; Stargardt disease; Best vitelliform dystrophy; Leber congenital amaurosis; choroideremia; achromatopsia; cone-rod dystrophy; congenital stationary night blindness; occult macular dystrophy; and familial dominant drusen in addition to patients with normal clinical findings and unclear diagnoses.
Of 70 patients, SPARK/Invitae considered the results ‘‘Positive” or “Potentially Positive’’ in 24 cases (34.3%), “Carrier” in 16 cases (22.9%) and ‘‘Uncertain’’ in 30 cases (42.9%). “Uncertain” results comprised patients with only “Variants of Uncertain Significance.” Patients categorized as a “Carrier” by SPARK/Invitae but who demonstrated pathogenic genetic changes correlating to the clinical diagnosis were considered to be in agreement with the clinical impression. The genetic diagnosis agreed with the clinical diagnosis in 30/70 (42.9%) total patients. Test results were consistent with the clinical impression in 13/26 (50.0%) retinitis pigmentosa cases, 6/8 (75.0%) Stargardt patients, 3/7 (42.9%) cone-rod dystrophy cases, and 2/4 (50.0%) Best vitelliform dystrophy patients. Gene testing helped elucidate diagnoses in two patients with unclear clinical impressions: one panel showed autosomal recessive achromatopsia and the other showed a carrier state for autosomal recessive retinitis pigmentosa. Of four patients with normal clinical exams, none had diagnostic results: all showed “Uncertain” findings.
The SPARK/Invitae gene panel provided a genetic diagnosis consistent with the clinical impression in about 40 percent of patients. Retinitis pigmentosa and Stargardt disease were the most common clinical diagnoses and the diagnoses most often confirmed by testing. Genetic screening also assisted in clarifying unknown diagnoses for two patients.
This is a 2021 ARVO Annual Meeting abstract.
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