Is race relevant to the case?

Optometry Times JournalJune digital edition 2024
Volume 16
Issue 06

A patient's ethnicity and race should be considered when assessing risk factor and changing management plans, according to Ruth Shoge, OD MPH, FAAO.

Physician going over chart with patient in office Image Credit: AdobeStock/rocketclips

Image Credit: AdobeStock/rocketclips

At the 2023 American Academy of Optometry meeting in New Orleans, Louisiana, Diane Russo, OD, MPH, MBA, and I did a presentation on the relevance of race to a case, centering on a patient with primary open-angle glaucoma (POAG). We presented examination elements found in a typical case but withheld information about the patient’s racial/ethnic identity. We polled the audience and asked them to consider the many risk factors (age, general health, family history, exam findings, and race) that go into their clinical decision-making about diagnosis and treatment. We asked that they carefully consider the race and ethnicity of the patient and whether it factors into the risk profile, decreases or increases the risk profile, and changes their management plan. We then presented compelling information for and against the use of race/ethnicity.

When I was in optometry school, we were taught that certain populations had higher risk for certain diseases: For example, Black people have a higher risk for POAG, White people (particularly of Nordic descent) are at risk for age-related macular degeneration, Asian people are at risk for myopia, and Latinx people have a higher prevalence of high astigmatism. These types of associations are still taught in optometry and other health professional schools across the country. These associations were typically justified and reinforced by the research, but rarely was the pathophysiological origin of these diseases in these populations explored or explained. For example, when I ask my students to think about sickle cell disease (SCD) and its association, they often say we expect to see SCD in people of African descent. Then I ask why. They generally make a reference to malaria, which is true. With that in mind, I ask them to reframe who is at higher risk for SCD. Eventually, we get there—SCD is a genetic mutation in response to an environmental threat (malaria) in a specific geographic location. This is a much more complex and accurate way of making these population-specific associations. One may argue that Black people are the ones found in these “specific geographic locations,” thus making a convenient shortcut in our cognitive process. However, 2 things are ignored when we do this. First, malaria, and thus SCD, is found in many regions outside of Africa, including the Mediterranean, South Asia, and the vast diaspora. Second, we cannot make disease associations with race without concurrently talking about racism.

It is important to understand the context in which race is defined and used and to build general consensus around this definition. Race (or more appropriately, racialized groups) is a social construct based on observable physical characteristics that have acquired socially significant meaning to divide people into groups. This division elicits different social perceptions, attitudes, and behaviors toward each group.1 Race is not biological in nature; there is no blood test to verify and match one’s race, and science has not identified a set of genes that correspond with the social concepts of race. Unlike race, genetics is a measurable biological parameter. Differences in genetics within a specific population account for 93% to 95% of genetic variation; therefore, differences between groups account for only 5% to 7% of measurable genetic variation.2 Race is largely understood as a modern concept; however, grouping people based on race, caste, or lineage can be traced to the medieval use of razas (races) for the purpose of religious identity.3 This video offers an in-depth look into the origin of race and its subsequent use in modern times. Racial pseudoscience (or more kindly put, science that lacked investigational, analytical, and applicational rigor), such as the study of phrenology, has long been used to support and justify the pervasive and open denial of civil, social, political, educational, economic, and health opportunities.

With this understanding of race, we then must define racism. Racism, as defined by Camara Jones, MD, PhD, MPH, is the socially-constructed belief that different races possess distinct characteristics, abilities, or qualities, especially so as to distinguish them as inferior or superior to one another.4 Prejudice, discrimination, and/or antagonism by an individual, community, or institution thus ensues against a person or people on the basis of their “membership” in a particular racial or ethnic group. These group dynamics involve one group having the power to carry out systematic discrimination through the institutional policies and practices of the society and by shaping the cultural beliefs and values that support racist policies and practices. In other words, racism equals racialized prejudice plus power.

When we look closely at the literature investigating the link between race and glaucoma, what we find is that most of the authors are discussing many factors that are confounded by race and influence the impact and outcome of glaucoma (and many other health problems). For example, a systematic review and meta-analysis of 81 population-based eye studies concludes that there is increased prevalence of POAG in Black and Latinx/Hispanic populations, with the lower racial risk factors being White or Asian.5 Other studies make racialized correlations to adherence in follow-up visits, treatment adherence, onset, and progression to blindness, factors that often relate to at least 1 of these social determinants of health (SDOH): economic stability; neighborhood and physical environment; education; food; community, safety, and social context; and the health care system. More recently, genome-wide association studies have identified several specific loci as being significantly associated with glaucoma; however, these studies were done only in European Caucasian and Asian populations.6 In January 2024, a genome-wide association study on people of African ancestry with glaucoma was published.7 This study identified 46 loci significantly associated with glaucoma and 3 variants that exhibit likely causal pathophysiology. With this knowledge, we can now educate practicing doctors, future doctors, and patients about what the genetic-level risk factors are for POAG. These conversations and processes should be reframed in a way similar to the conversations and education we have about the risk of breast cancer, for example. Most of the public has heard about the BRCA genes, the genes most commonly affected in hereditary breast and ovarian cancer. Similarly, we should decouple the risk from race, identify the genes or genetic variations that are responsible for the pathophysiology, educate people appropriately about their genetic risk, understand the social determinants that may influence outcomes, and provide equitable access to care.

Knowing that there are specific chromosomal loci that put people at higher risk for POAG is one tool to help combat the effects of racialized medicine. Additionally, we must understand and acknowledge the social origins of racialized disparities, use tools to elicit the SDOH that impact our patients, and provide equitable care, particularly to those who are most vulnerable. We can query our patients about SDOH with a simple questionnaire. The National Association of Community Health Centers, Association of Asian Pacific Community Health Organizations, and Oregon Primary Care Association collaborated to develop, test, and spread a national, standardized, patient-centered SDOH assessment tool, known as the Protocol for Responding to and Assessing Patients’ Assets, Risks, and Experiences (PRAPARE) Screening Tool. PRAPARE identified 15 core SDOH domains and is available in over 25 languages. Finally, when we read literature associating race and disease prevalence and outcomes, we must be diligent and use tools, such as the Critical Appraisal of Race in Medical Literature (CARMeL) tool, to truly understand and analyze the information we are consuming. CARMeL asks 8 appraisal questions around 3 domains checking for the internal validity, external validity, and applicability/impact of the article. These tools, coupled with a better understanding of genetic predisposition to POAG, will help keep biases at bay in our clinical decision-making with patients.

  1. Blank RM, Dabady M, Citro CF, eds. Measuring Racial Discrimination. National Academies Press; 2004. Accessed March 22, 2024.
  2. Rosenberg NA, Pritchard JK, Weber JL, et al. Genetic structure of human populations. Science. 2002;298(5602):2381-2385. doi:10.1126/science.1078311
  3. Hochman A. Is “race” modern? Disambiguating the question. Du Bois Rev. 2019;16(2):647-665. doi:10.1017/S1742058X19000286
  4. Jones CP. Levels of racism: a theoretic framework and a gardener’s tale. Am J Public Health. 2000;90(8):1212-1215. doi:10.2105/ajph.90.8.1212
  5. Kapetanakis VV, Chan MP, Foster PJ, Cook DG, Owen CG, Rudnicka AR. Global variations and time trends in the prevalence of primary open angle glaucoma (POAG): a systematic review and meta-analysis. Br J Ophthalmol. 2016;100(1):86-93. doi:10.1136/bjophthalmol-2015-307223
  6. Wiggs JL, Pasquale LR. Genetics of glaucoma. Hum Mol Genet. 2017;26(R1):R21-R27. doi:10.1093/hmg/ddx184
  7. Verma SS, Gudiseva HV, Chavali VRM, et al. A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. Cell. 2024;187(2):464-480.e10. doi:10.1016/j.cell.2023.12.006
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