Glaucoma, a group of eye diseases that damage the optic nerve, leads to blindness in 5% of patients. Black people are five times more likely to develop glaucoma than White people, and they tend to develop symptoms earlier and decline faster. Yet, Black Americans have been noticeably absent from most clinical research studies.

A team from the University of Pennsylvania’s Scheie Eye Institute intends to remedy that. The scientists have recruited 10,000 Black Philadelphians to participate in the Primary Open-Angle African American Glaucoma Genetics Study (POAAAGGS), one of the largest genetic glaucoma studies in the Black community to-date, to combat vision loss and prevent blindness. 

The Need for Research in Black Communities

Scheie Eye Institute is located in West Philadelphia, a mostly black neighborhood. Eydie Miller-Ellis, professor of clinical ophthalmology at Penn and chief of glaucoma services at Scheie, says that more than 50% of her patients are Black, and the majority of them have primary open-angle glaucoma (POAG), a form of the disease that progresses slowly over years. POAG results from elevated internal eye pressure, and vision loss begins at the outer corner of the affected eye.

Medicated eye drops and implants, laser therapy, and surgery can usually reduce pressure in the eye before peripheral vision loss progresses to blindness. Unfortunately, not all glaucoma cases respond to treatment, and some people who develop symptoms at a younger age (e.g., 45 vs 65), don’t realize the dangers or alert their doctors to visual changes.

Barriers to Research in Black Communities

The team’s initial recruitment efforts in July 2010 yielded disappointing results. Historical mistreatment of Black research participants, and Black Americans’ own negative experiences with healthcare providers, are well-known factors that discourage Black engagement with clinical studies. The Tuskegee Syphilis study, and the case of Henrietta Lacks are two of the most infamous examples. Marquis Vaughn, director of community outreach for the POAAGG study, reported that some people worried their DNA samples could be used to frame them for crimes. 

“These types of hesitations and reservations have the negative effect of people of color not participating in very important research,” she said. “It takes away the chance for them to be a part of cutting-edge treatments.” To change this, Vaughn helped mount a multimedia glaucoma awareness campaign to encourage people to get screened, placing flyers and postcards at hair salons, barbershops, bus stops, and other critical hubs in the community.

Breaking Down the Barrier of Mistrust

An $11 million grant helped boost their efforts, and they began holding screening sessions at churches, community centers, and even a customized van. During screenings, they invited people to join the study, and many did. The fact that most of the doctors doing the screening were Black helped establish trust. “I would say, ‘Glaucoma is really the number one blinding disease in our community and it affects us,’” said co-author Eydie Miller-Ellis. “I think that since I could include myself in the ‘us’… they felt that I was invested in it.”

Another useful vehicle was WURD Radio, a well-respected Black-owned and -operated talk station founded by Black physician Walter Lomax. A follow-up survey showed that about 75% of the study participants had heard about on WURD. The first time Diane McCoy Lackey heard about the glaucoma study on WURD, she had reservations, but the second time made her think that perhaps she could help someone else preserve their sight. “I’m praying that it’ll make a difference so future people don’t have to suffer glaucoma,” Lackey said.

Making Progress

With initial recruitment completed in 2019, the researchers began seeking genetic sequences and mutations that might play a role in glaucoma and provide targets for gene therapy. Their preliminary findings were published earlier this year, and included:

• Genomic sequences most often seen in people of African descent associated with glaucoma risk
• Specific genetic mutations linked to individual eye measurements, such as eye pressure and nerve thickness, characteristic of POAG
• Ways that clinical ophthalmology tools can mislead doctors regarding Black patients’ glaucoma risk

These findings may indicate that POAG is actually a collection of diseases with different genetic drivers, said lead study author Joan O’Brien said, and that could result in earlier diagnoses and improved patient care. 

As for the participants, Lackey said being in the study has reinforced the importance of maintaining her eye drop regimen, and it’s changed her opinion about medical studies. While still not comfortable that her DNA has been collected and tagged, Lackey says she is “cautiously optimistic that they can make a difference, and I’m willing to try to help.”

*Nathan, A. (2021, Aug. 9). More Than 10,000 Black Philadelphians Are Participating in a Penn Study to Understand Glaucoma. The Philadelphia Inquirer. https://www.inquirer.com/health/glaucoma-genetics-black-penn-philadelphia-scheie-20210809.html