Association of No-Cost Genetic Testing Program Implementation and Patient Characteristics With Access to Genetic Testing for Inherited Retinal Degenerations

Abstract

IMPORTANCEThe benefits of no-cost genetic testing initiatives have not been characterized. The no-cost My Retina Tracker Genetic Testing Study (MRT-GTS) research registry for inherited retinal degenerations (IRDs) was launched in 2017 in the US.OBJECTIVE To investigate the associations of MRT-GTS implementation and patient characteristics with access to genetic testing for IRDs. DESIGN, SETTING, AND PARTICIPANTSIn a cross-sectional design, analysis of new patients evaluated 12 months before (July 1, 2016, to June 13, 2017) and 12 months after (June 14, 2017, to June 30, 2018) MRT-GTS implementation at a single academic referral eye center was conducted. Participants included 369 patients with IRD. Data analysis was conducted from February to June 2020. MAIN OUTCOMES AND MEASURESChange in rates of successfully obtaining genetic testing, odds ratios (ORs) of association between patient characteristics and obtaining testing, and days elapsed from clinic visit to reporting of results. RESULTS Among 369 patients (mean [SD] age, 39.5 [20.8] years; 193 [52.3%] women), 144 were evaluated in the pre-MRT-GTS period and 225 in the post-MRT-GTS period. The baseline rate of successfully obtaining testing was 51.4% (95% CI, 42.6%-60.2%). The initiation of MRT-GTS was associated with a 28.9-percentage point increase in testing rate (95% CI, 16.7%-41.1%; P < .001). Patient characteristics that increased the odds of obtaining testing were eligibility for MRT-GTS (OR, 14.15; 95% CI,; P < .001) and worse visual acuity (logMAR +1.0; Snellen equivalent decrease from 20/20 to 20/200) in the better-seeing eye (OR, 1.92; 95% CI, 1.27-2.91; P < .01). Patients had decreased odds when identifying as Black or African American (OR, 0.10; 95% CI, 0.04-0.24; P < .001) or other race (OR, 0.37; 95% CI, 0.15-0.91; P = .03) compared with White race, and when the primary language was not English (OR, 0.13; 95% CI, 0.03-0.55; P < .01). The proportion of test results reported within 90 days was 81.5% (95% CI, 74.8%-86.4%) when eligible for MRT-GTS compared with 48.1% (95% CI, 35.6%-58.1%) when not eligible (P < .001). CONCLUSIONS AND RELEVANCEIn this study, the implementation of MRT-GTS was associated with an increase in the proportion of patients who successfully obtained testing, suggesting the potential clinical value of this approach. Patient-level demographic and clinical factors appear to be associated with decisions to pursue testing.

Utility of No-Charge Panel Genetic Testing for Inherited Retinal Diseases in a Real-World Clinical Setting

“…Other areas of challenge to genetic testing include lower reported rates of participation among different ethnic groups. 4 The involvement of a variety of patients is critical to gaining insights into the genetics of IRDs; therefore, the opportunities to intervene should remain a high priority for retina specialists who manage IRDs. Moreover, because commercial vendors remain integral in the provision of no-charge kits and sample analysis, it is important to understand the theoretical risk to all patients of lost control of personal genetic data.…”

“…Implementation of these programs has substantially increased the rate of and access to testing, suggesting that patients and physicians are increasingly interested in genetic testing. 4 The ID Your IRD program provides a panel testing kit to physicians for patients who desire testing. It assays for the presence of more than 200 IRD-associated gene mutations and provides a streamlined process of sample acquisition and results reporting.…”

“…These studies report a wide range (25%-76%) of diagnostic yield. [4][5][6][7][8][9][10][11][12] These reports might not reflect the expected yields or challenges of testing in the setting of everyday clinical practice. The present study aimed to show the clinical utility and diagnostic yield of no-charge panel genetic testing from the ID Your IRD program at a single academic center.…”

“…Implementation of these programs has substantially increased the rate of and access to testing, suggesting that patients and physicians are increasingly interested in genetic testing. 4…”

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

“…Within the last five years, genetic testing for IRDs has become more accessible within mainstream medicine 30 , 31 and through research programs 10 , 32 – 34 , and gene and cell therapies have been developed 6 . With improved access to diagnostic genetic testing, it is important to evaluate and enhance the genomics literacy of eye care professionals to manage expectations and meet their information needs 36 .…”