Race, Genomics and Chronic Disease: What Patients with African Ancestry Have to Say

Abstract

Background Variants of the APOL1 gene increase risk for kidney failure 10- fold, and are nearly exclusively found in people with African ancestry. To translate genomic discoveries into practice, we gathered information about effects and challenges incorporating genetic risk in clinical care. Methods An academic- community- clinical team tested 26 adults with self- reported African ancestry for APOL1 variants, conducting in- depth interviews about patients' beliefs and attitudes toward genetic testing- before, immediately, and 30 days after receiving test results. We used constant comparative analysis of interview transcripts to identify themes. Results Themes included: Knowledge of genetic risk for kidney failure may motivate providers and patients to take hypertension more seriously, rather than inspiring fatalism or anxiety. Having genetic risk for a disease may counter stereotypes of Blacks as non- adherent or low- literate, rather than exacerbate stereotypes. Conclusion Populations most likely to benefit from genomic research can inform strategies for genetic testing and future research.

You Are Just Now Telling Us About This? African American Perspectives of Testing for Genetic Susceptibility to Kidney Disease

“…These patients felt knowing one's APOL1 status would be useful to families and motivate positive health behaviors and close clinical management and monitoring. 13 In contrast, only two (5%) of our study's participants saw no personal or clinical benefit and did not support offering the test to anyone; they expressed doubt that knowledge of APOL1 status would motivate better health practices and took at face value the current lack of clinical utility. Indeed, some saw greater potential for harms, such as psychologic burdens-such as fear, anger, and distress-that could afflict individuals as well as black communities, given the ancestry-specific nature of APOL1 variants.…”

“…Participants also raised concerns that offering the test only to African Americans might exacerbate racism and stereotyping. In contrast, Horowitz et al 13 reported that the patients in their study thought having a genetic risk and genetic testing for kidney disease in black people could counter stigmatization and negative stereotyping of them as nonadherent or having social or behavioral reasons for being sicker than white individuals.…”

“…Participants also expressed hope that testing might enable more research, yield treatments, and ultimately eliminate racial disparities in CKD and ESKD. Horowitz et al 13 identified some of these same views in the context of a clinical research study that interviewed patients of African ancestry before, immediately after, and 30 days after they underwent APOL1 risk testing. These patients felt knowing one's APOL1 status would be useful to families and motivate positive health behaviors and close clinical management and monitoring.…”

At the Research-Clinical Interface

“…Clinicians and researchers need to consider the range of specialty care required for medically actionable results (such as well characterized incidental findings), including financial or geographic burden involved in access from research or in the context of clinical care (5,30,31). Furthermore, providing the option to learn research results may strengthen relationships between researchers and minority populations (32).…”

The Potential for Plant-Based Diets to Promote Health Among Blacks Living in the United States

“…Blacks in the United States (people of African ancestry, including African-Americans, Africans, Afro-Caribbeans, and Afro-Latinos) are disproportionately affected with chronic diseases compared to the general population. Several factors contribute to this finding, including genetic predisposition (having high-risk alleles for certain conditions), environmental factors (e.g., poor quality health care), and lifestyle behaviors (diet and physical activity) [2]. A healthy diet and regular physical activity may reduce risks for, delay, and assist in managing, chronic diseases.…”