Black and low-income patients are significantly under-represented in genetics clinics, according to a new study from the Perelman School of Medicine at the University of Pennsylvania and Massachusetts General Hospital. The research, published in the American Journal of Human Genetics, analyzed records from more than 14,000 adults who visited genetics clinics at these institutions over five years.
The study focused on germline genetic testing, which identifies inherited DNA variants that can signal increased risk for conditions such as hereditary cancers or mitochondrial diseases. Researchers found that Black patients and those from socioeconomically disadvantaged neighborhoods were referred to genetics clinics at rates half or less than those of White patients or individuals from wealthier areas.
"This work shows that when patients from underrepresented communities access genetics services, they not only accept testing at higher rates but often uncover critical answers," said Latrice Landry, PhD, an instructor of Genetics at Penn and co-author of the study.
Once evaluated for genetic testing, Black patients were more likely to have tests ordered. Additionally, patients from lower-income neighborhoods were more likely to receive definitive results that could guide treatment and improve outcomes.
"The real bottleneck is likely at the referral stage; systemic barriers in primary care, such as knowledge gaps, clinic hours, and referral patterns, are preventing patients who stand to benefit the most from ever reaching our door," said Drivas.
Researchers identified a lack of national guidelines on genetic testing as a key factor contributing to these disparities. Without clear recommendations for referrals or testing, providers may be less inclined to refer patients for genetic services, and insurance companies may not cover such tests. The study noted that efforts to create guidelines in cancer genetics have helped reduce racial disparities in that field.
The researchers suggest several interventions: using electronic health record prompts for referrals, embedding genetic counselors within primary care settings, and offering virtual counseling options—strategies already used successfully in cancer genetics programs. They also recommend expanding workforce training and increasing diversity among genetics specialists due to current shortages.
"The findings have urgent implications as genetic testing becomes central to routine care," Landry said. "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."
