Genetic Testing in Eye Disease: Promise and Ethics

Authored by: Armaan Vaswani

Art by: Vanessa Chen Hsieh

Inherited eye disorders (IEDs) are the leading cause of progressive vision loss and blindness worldwide. Some common IEDs, such as retinal degeneration and macular degeneration, develop very gradually. As a result, patients are often not diagnosed until much later in life, making lifestyle changes and modifications both sudden and difficult. Recently, researchers at the Harvard Ocular Genomics Institute developed a new genetic test for IEDs that is 98% accurate [1]. The test, called the ‘Panel Test,’ focuses on 226 genes linked to the most common inherited eye disorders and detects mutations within those genes. The test allows doctors to identify gene mutations (that cause IEDs) much earlier in a person's life [1,2]. 

The test shows a lot of promise for many patients. Early diagnosis can help those affected prepare ahead of time for future vision changes, letting them establish the correct connections and lifestyle changes early. The Panel Test also allows physicians to tailor their treatment and connect patients with the appropriate treatment plans earlier during their care pipeline, allowing for more holistic and encompassing care. Most importantly, genetic testing can help determine if a patient qualifies for clinical trials or emerging genetic treatments. The recent approval of Luxturna, the first gene therapy for an inherited retinal disease, is a testament to how genetic testing can become more relevant when establishing clinical care [3]. The use of the ‘Panel Test’ to detect IEDs earlier will allow treatments like Luxturna to become more preventative forms of treatment, as opposed to the reactive intervention that it currently is. 

That being said, detection does not always have a straightforward treatment direction. For many of these IEDs, there is no clinical cure for patients. Learning that one might carry a mutation without having a streamlined treatment plan can carry a significant psychological burden, especially for children or young adults. While understanding one's own condition is a vital part of disease detection, the use of tests like the ‘Panel Test’ raises many ethical concerns surrounding genetic testing for inherited diseases.

Healthcare inequality is commonly discussed in relation to innovative genetic tests,

including the ‘Panel Test’. While this test is considered both simple and low burden, it is still an advanced technology that is likely only present in the newest healthcare centers. Studies have shown that the use of these types of simplified tests have a lower implementation in groups with lower socioeconomic status and groups of racial minorities [4]. While a public health agenda is a commonly debated solution to fix implementation disparities at the start, they are oftentimes hard to implement and overlook key aspects to fixing inequalities. Many argue that genetic tests, like the ‘Panel Test’, will follow a similar trajectory of tests for other inherited diseases, such as hereditary breast and ovarian cancer (HBOC) [5]. Genetic tests for HBOC are three times more prevalent in white communities than those that are Hispanic and Black. A legitimate fear surrounds the implementation of the ‘Panel Test’ as many believe that it will lead to a greater divide in healthcare access between populations. The benefit the ‘Panel Test’ provides patients, and harm it can cause to healthcare equity gaps, need to be carefully considered when deciding to implement these tests clinically. 

Privacy concerns are the most prominent of these ethical issues. Genetic information could affect a person's ability to obtain insurance or raise their insurance premiums. GINA, the Genetic Information Nondiscrimination Act, protects against genetic data being used in health insurance; however, the same doesn’t apply to life or disability insurance. As a result, many fear that genetic testing could create future financial risks for both themselves and their families. While the ‘Panel Test’ shows exciting promise at detecting IEDs earlier in life, many argue that the ethical issues associated with the test outweigh the benefits of disease detection [6]. On the other hand, insurers view the lack of this information as a potential cause for “moral hazard” [3,7]. Without information provided by these genetic tests, insurance companies feel vulnerable to beneficiaries trying to “game” the system, which can heavily harm their business model. Conflicting viewpoints will contribute to an ongoing debate and can discourage patients from pursuing genetic testing.

Genetic editing shows a lot of promise; however, early detection of these diseases rarely leads to targeted gene therapies. The technology offers many opportunities to improve disease understanding and connect patients with emerging therapies, but it also raises many ethical questions that must be addressed. Essential steps need to be taken to improve patient education and strengthen privacy before this enters routine clinical practice. The ethics behind large-scale use associated with this testing are commonly debated, and should be carefully evaluated in order to ensure both personal well-being and ethical medical practice. 

References:

1. Genetic Testing for Inherited Eye Diseases | Department of Ophthalmology. (n.d.). Retrieved April 6, 2026, from https://eye.hms.harvard.edu/eyewitness/27/genetic-testing-inherited-eye-diseases

2. McClard, C. K., Pollalis, D., Jamshidi, F., Kingsley, R., & Lee, S. Y. (2022). Utility of No-Charge Panel Genetic Testing for Inherited Retinal Diseases in a Real-World Clinical Setting. Journal of VitreoRetinal Diseases, 6(5), 351–357. https://doi.org/10.1177/24741264221100936

3. Russell, S., Bennett, J., Wellman, J. A., Chung, D. C., Yu, Z.-F., Tillman, A., Wittes, J., Pappas, J., Elci, O., McCague, S., Cross, D., Marshall, K. A., Walshire, J., Kehoe, T. L., Reichert, H., Davis, M., Raffini, L., George, L. A., Hudson, F. P., … Maguire, A. M. (2017). Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: A randomised, controlled, open-label, phase 3 trial. The Lancet, 390(10097), 849–860. https://doi.org/10.1016/S0140-6736(17)31868-8

4. Roberts, M. C., Kennedy, A. E., Chambers, D. A., & Khoury, M. J. (2017). The current state of implementation science in genomic medicine: Opportunities for improvement. Genetics in Medicine, 19(8), 858–863. https://doi.org/10.1038/gim.2016.210

5. Khoury, M. J., Bowen, S., Dotson, W. D., Drzymalla, E., Green, R. F., Goldstein, R., Kolor, K., Liburd, L. C., Sperling, L. S., & Bunnell, R. (2022). Health equity in the implementation of genomics and precision medicine: A public health imperative. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 24(8), 1630–1639. https://doi.org/10.1016/j.gim.2022.04.009

6. Botkin, J. R. (2016). Ethical issues in pediatric genetic testing and screening. Current Opinion in Pediatrics, 28(6), 700-704. https://doi.org/10.1097/MOP.0000000000000418

7. Clayton, E. W. (2003). Ethical, Legal, and Social Implications of Genomic Medicine. New England Journal of Medicine, 349(6), 562–569. https://doi.org/10.1056/NEJMra012577