A recent study has uncovered significant disparities in genetic evaluation and testing for Black patients and those from low-income neighborhoods. Research conducted by the Perelman School of Medicine at the University of Pennsylvania and Massachusetts General Hospital reveals that these groups are dramatically under-represented in genetics clinics, often at rates less than half compared to white patients or individuals from wealthier areas.
Once patients do reach the evaluation stage for genetic testing, however, the trend reverses. Black patients were found to be more likely to have genetic testing ordered, while those from lower-income neighborhoods often received definitive and actionable results that could guide their treatment. The findings were published in the American Journal of Human Genetics.
Understanding the Disparities
The study, led by Theodore G. Drivas, MD, Ph.D., an assistant professor of Translational Medicine and Human Genetics at Penn, emphasizes that the issue lies not with patients’ willingness to undergo genetic testing, but rather with a lack of information. “These findings indicate that minorities or lower-income patients are not hesitant about genetic testing; they simply haven’t been informed about the option to receive it,” Drivas stated.
The research focused on germline genetic testing, which identifies inherited variants in a patient’s DNA that may indicate a risk for hereditary conditions such as certain cancers, mitochondrial diseases, and cystic kidney disease. The analysis reviewed records from over 14,000 patients seen in adult genetics clinics at the University of Pennsylvania Health System and Mass General Brigham over a five-year period.
Barriers to Access
A significant barrier identified in the study is at the referral stage. Drivas pointed out that systemic issues in primary care, such as knowledge gaps among providers, limited clinic hours, and referral patterns, hinder patients from accessing crucial genetic services. The absence of national guidelines regarding the importance of genetic testing also contributes to these gaps. Without clear guidelines, healthcare providers are less likely to refer patients for genetic evaluation, which can lead to insurance companies being less willing to cover such testing.
The researchers noted that concerted efforts to develop guidelines in areas like cancer genetics, where testing has become more prevalent, have successfully reduced racial disparities. They argue that similar approaches could be beneficial for other adult genetic conditions, where insurance coverage may not always be guaranteed, leading to hesitancy from both doctors and patients.
Proposed Solutions
The study highlights promising interventions that could help bridge the gap. Suggestions include implementing electronic health record flags to prompt referrals, embedding genetic counselors within primary care settings, and providing virtual genetic counseling options. These strategies have shown success in cancer genetics programs and could be adapted for broader use.
Additionally, the researchers advocate for enhanced workforce training and diversification within the field of genetics, noting the acute shortage of specialists and the lack of diversity among practitioners.
“The findings have urgent implications as genetic testing becomes central to routine care,” said Latrice Landry, Ph.D., an instructor of Genetics at Penn and co-author of the study. “We owe it to all patients to build equitable systems—through better education, virtual care, and policy changes—so that precision medicine truly benefits everyone.”
This research underscores the critical need for equitable access to genetic testing and evaluation, ensuring that all patients, regardless of their background, can benefit from advancements in medical science.
