Study reveals disparities in access to genetic testing for Black and low-income patients.

A recent study from Penn Medicine has highlighted a stark disparity in genetic testing among racial groups, revealing that Black patients comprise only about 9% of those receiving genetic counseling and testing at their clinic, despite the fact that they represent nearly 40% of West Philadelphia’s population. This discrepancy is particularly concerning given that patients from lower-income neighborhoods are also less likely to seek services at genetic clinics, yet when they do, they are more likely to receive positive results from tests.

The study, published in the latest issue of The American Journal of Human Genetics, indicates that Black patients are significantly underrepresented in adult genetics clinics, including those at Mass General Brigham, a prominent healthcare system affiliated with Harvard. Notably, Black patients are estimated to be 58% less likely to be seen at Penn’s genetics clinic compared to the expected rates based on the overall demographics of the health system. A similar trend was found at Mass General Brigham, where the likelihood is reduced by 55%.

The lack of representation in genetic testing does not stem from physiological differences in rates of genetic conditions among racial groups, as there is no biological rationale for such disparities. In fact, conditions do not inherently favor one race over another. Instead, if certain groups are not receiving adequate testing, they may be missing out on critical diagnoses that could inform their healthcare.

Racial disparities in healthcare have been attributed to a myriad of factors, including socioeconomic barriers, unequal access to care, implicit bias in the healthcare system, and a history of medical mistrust among minority groups. Previous research by Drivas’ team found alarming differences in awareness of genetic conditions among patients in intensive care—63% of white patients were cognizant of their genetic conditions compared to only 22.7% of Black patients.

To mitigate these disparities, the researchers recommend integrating genetic testing into standard medical protocols and improving access for underserved populations. Providing adequate education and training for healthcare professionals across various fields will also ensure that more patients receive appropriate referrals for genetic evaluations.

The findings of this study underscore a broader issue in the healthcare system, where access to genetic diagnosis and testing remains disproportionately skewed. Drivas emphasizes that the variation in testing must not only prompt introspection within individual institutions like Penn and Harvard but should also catalyze systemic changes in the genetics field as a whole. Ensuring equitable access to genetic services can ultimately lead to better health outcomes and reduce the current inequalities that pervade the healthcare landscape.

In summary, the study presents a significant call to action for the medical community, highlighting the urgent need to rectify these disparities in genetic testing and improve health equity for all patients, regardless of race or socioeconomic status.