Summary
A study at UPHS and MGB found racial and socioeconomic disparities in access to genetic evaluation. While Black patients were underrepresented in genetics clinics, those evaluated were more likely to receive genetic testing and positive results, highlighting the need for improved equity in medical genetics.
Editors: Donna E. Hansel, MD, PhD, division head of pathology and laboratory medicine, MD Anderson Cancer Center, Houston; James Solomon, MD, PhD, assistant professor, Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York; Erica Reinig, MD, assistant professor and medical director of molecular diagnostics, University of Wisconsin-Madison; Marcela Riveros Angel, MD, molecular genetic pathology fellow, Department of Pathology, Oregon Health and Science University, Portland; Maedeh Mohebnasab, MD, assistant professor of pathology, University of Pittsburgh; Alicia Dillard, MD, molecular pathologist, Sonic Healthcare USA, Rye Brook, NY; and Richard Wong, MD, PhD, assistant professor of pathology, University of California San Diego.
Racial and socioeconomic disparities in access to genetic evaluation
March 2026—Precision medicine depends heavily on accurate genetic diagnoses, which guide targeted therapies, disease surveillance, and preventative care. Medical geneticists and genetic counselors play a key role in evaluating patients for inherited conditions. However, access to genetics clinics can be limited by systemic barriers that have the potential to worsen health care disparities and lead to unequal health outcomes. Some of these systemic barriers have been previously described. For example, people of lower socioeconomic status may be less likely to undergo genetic testing and more likely to receive inconclusive results. One reason for the latter is that many genetic reference databases, including those used for variant interpretation and risk prediction, are based largely on data from predominantly white patients. While some barriers have been previously described, their impact in real-world clinical genetics practices has not been well studied. The authors conducted a study in which they examined the effects of race and other social determinants of health on genetic evaluation and testing in adult genetics clinics at the University of Pennsylvania Health System (UPHS) and Mass General Brigham (MGB) health care system. At both institutions, white patients were overrepresented in adult genetics clinics, while Black or African-American patients were underrepresented. For example, at UPHS, only 8.9 percent of genetics clinic patients were Black, compared with 18.8 percent of the overall UPHS patient population and 38.6 percent of Philadelphia’s population. Similar patterns were observed at MGB. To demonstrate that this disparity was unique to genetics clinics, the authors evaluated other subspecialty clinics. At UPHS, Black patients comprised 23.4 percent of the outpatient cardiology clinic population and 23.7 percent of the endocrinology clinic population, values closer to the overall patient population. The authors also examined the role of other social determinants of health. Patients from neighborhoods with higher median household income or a greater proportion of residents with advanced degrees were more likely to be seen in genetics clinics. In contrast, patients from neighborhoods with lower levels of education attained and higher rates of Medicaid coverage were less likely to be evaluated. These associations remained when the analysis was restricted to white individuals, suggesting that these factors are significant independent of race. The authors then evaluated individual-level outcomes among the patients seen in genetics clinics. They found that Black patients were significantly more likely than white patients to have genetic testing ordered following evaluation. Although race was not associated with the likelihood of genetic testing results being positive, other social determinants of health were. People were significantly more likely to receive positive genetic testing results if presenting from neighborhoods with a lower median education or lower median income. For example, every $10,000 increase in median household income was associated with about a four percent lower likelihood of a positive result. These data show that patients with adverse social determinants of health who are evaluated often have meaningful findings, confirming that they are not being referred to clinics at the same rate. Taken together, these findings show that race and socioeconomic status have independent and meaningful associations with access to genetic evaluation and outcomes of such evaluation. While those who are minoritized or from lower socioeconomic backgrounds are underrepresented in adult genetics clinics, such individuals who are evaluated often receive genetic testing and may be more likely to receive results that could directly affect their medical care. Overall, systemic barriers remain, particularly in medical genetics, despite ongoing efforts to improve equity.
Gold JI, Elkaim Y, Gold NB, et al. Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population. Am J Hum Genet. 2026;113:29–40.
Correspondence: Dr. Theodore Drivas at [email protected]