Program Aims to Increase Genetic Testing for Inherited Retinal Degenerations

Implementation of the free My Retina Tracker Genetic Testing Study program was associated with an increased proportion of patients with inherited retinal degeneration successfully obtaining genetic testing, according to analysis results published in JAMA Ophthalmology.

Implementation of the free My Retina Tracker Genetic Testing Study (MRT-GTS) program was associated with an increased proportion of patients with inherited retinal degeneration (IRD) successfully obtaining genetic testing, according to analysis results published in JAMA Ophthalmology.

Over 200,000 individuals in the United States currently have IRDs, and clinical genetic testing (giving a specific molecular diagnosis) is an integral part of providing care to these individuals, authors explained. In addition to providing relatives or parents with prognostic information to identify genetic variants, which could advance disease understanding, testing also allows patients to access clinical trials testing treatments for Stargardt disease, achromatopsia, or other conditions.

However, access to genetic testing is not available to all patients with IRDs; in the United States, “health insurance coverage for testing varies by insurance carrier, and sometimes even among patients with the same carrier,” researchers said.

In an effort to combat these barriers, the Foundation Fighting Blindness launched the MRT-GTS in 2017, so patients can receive fully subsidized testing when enrolled in the MRT registry. To understand the association of MRT-GTS launch with rates of genetic testing and association of patient characteristics with odds of obtaining genetic testing, researchers conducted a retrospective medical record review.

Records from July 1, 2016, to June 30, 2018, amassed from a single IRD clinic were used in the analysis, which was conducted from February to June 2020. All study participants were new patients who were determined to have a clinical presentation consistent with an IRD.

“In the pre–MRT-GTS period, patients were offered the options of waiting for insurance preauthorization or proceeding with immediate testing with the understanding that if insurance declined coverage, out-of-pocket payment would be required,” researchers explained. “In the post–MRT-GTS period, eligible patients were offered enrollment in MRT-GTS in addition to established options.”

A total of 144 patients were evaluated in the pre–MRT-GTS period and 225 were evaluated in the post–MRT-GTS period. Mean (SD) participant age was 39.5 (20.8) years, and the majority (52.3%) were female. At baseline, the rate of successfully obtaining genetic testing was 51.4% (95% CI, 42.6%-60.2%).

Analyses revealed:

  • The initiation of MRT-GTS was associated with a 28.9-percentage-point increase in the testing rate (95% CI, 16.7%-41.1%; P < .001).
  • Patient characteristics that increased the odds of obtaining testing were eligibility for MRT-GTS (odds ratio [OR], 14.15; 95% CI, 7.36-27.24; 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 of testing if they identified 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 if their 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).
  • Testing through MRT-GTS returned a result explaining the retinal disease phenotype in 86 of 138 (62%) individuals.

Overall, results suggest the potential role of no-cost genetic testing programs in increasing access to testing for patients with genetic diseases “and highlight how decisions to undergo testing are influenced by systems and individual factors,” the authors wrote.

Substantial ophthalmic health disparities exist among African American patients for cataracts, glaucoma, and diabetic retinopathy, which may have contributed to the low genetic testing rates seen in these populations. Health and eye care disparities have also been reported among immigrant populations.

“Future implementation of additional mechanisms to enroll non–English-speaking patients would help address existing inequalities in insurance coverage and access to health services for this demographic,” researchers said, adding that future investigations should study the reasons for decreased odds of testing in these groups.

The study’s design precludes any determination of causality, marking a limitation, and accuracy of data are limited by the study’s retrospective nature. Patient factors that might have been associated with odds of obtaining genetic testing, like education level and socioeconomic status, were also not routinely documented.

Reference

Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera T. Association of no-cost genetic testing program implementation and patient characteristics with access to genetic testing for inherited retinal diseases. JAMA Ophthalmol. Published online March 4, 2021. doi:10.1001/jamaophthalmol.2021.0004