by Bill Snyder
A computer-based method developed at Vanderbilt University Medical Center that scans electronic medical records (EMRs) for genetic contributors to disease has been used for the first time to reveal the impact of race on health.
The PheWAS (phenome-wide association study) identified race as an important risk factor in an “astounding breadth” of diagnoses and conditions, the researchers reported recently in the Journal of the National Medical Association.
“Our study confirms the broad range of diseases that have higher prevalence among Black people. A number of these diseases could impact the immune system and increase the risk of COVID-19,” said the paper’s corresponding author, Consuelo Wilkins, MD, MSCI, professor of Medicine and Vice President for Health Equity at VUMC.
“This means we should be ensuring that people at increased risk of COVID-19 have access to testing and care and be included in clinical trials,” said Wilkins, who also is associate dean for Health Equity in the School of Medicine.
“Most important, this study is about race, not genetics,” she cautioned. Socioeconomic factors and lack of access to health care are important contributors to racial disparities in the incidence and severity of a wide range of health conditions.
“We’re very hopeful that this type of analysis, while so distressing, will begin to call more attention to those under-researched diseases with substantial disparity, and that we can design new research support programs to help researchers pursue these focus areas,” said Jill Pulley, MBA, the paper’s first author.
Pulley is executive director of the Vanderbilt Institute for Clinical and Translational Research (VICTR).
PheWAS was developed as a way to search the EMRs of thousands of patients for associations between known genetic variations and “phenotypes,” including diagnoses and responses to various medications.
In the current study, researchers extracted diagnoses from the EHRs of patients treated at VUMC during the past 20 years that have been “de-identified,” or scrubbed of personal information. Of the nearly 1.9 million records in the study, nearly 270,000 identified patients as Black and 1.6 million as white.
Among Blacks, the study identified sickle cell anemia as having the highest increased risk. Blacks were at higher risk for common diseases including hypertension, diabetes, asthma, atherosclerosis and glaucoma, and for several rare diseases such as Paget’s disease, a bone disorder, and polymyositis, an inflammatory disease that causes muscle weakness.
Blacks also were at higher risk for conditions associated with social, economic and behavioral factors including sexually transmitted infections and anemia during pregnancy.
The wide spectrum of increased risks likely plays “a significant role in the increased COVID-19 disease severity and mortality experienced by Blacks,” the researchers concluded.
Some conditions may be underreported in the EHR, particularly for patients with limited access to health care and lower insurance coverage, the researchers acknowledged. For patients with limited English proficiency, “some things might get lost in translation,” Wilkins added.
Clinicians also need to be aware of “unconscious biases” or assumptions about others that can affect how they perceive their patients and what they report their patients are trying to tell them, she said.
Other co-authors are Rebecca Jerome, MLIS, MPH; VICTR Director Gordon Bernard, MD, VUMC Executive Vice President for Research; Jana Shirey-Rice, PhD, and Yaomin Xu, PhD, assistant professor of Biostatistics.
VUMC’s Clinical and Translational Science Award (TR002243) from the National Center for Advancing Translational Sciences of the National Institutes of Health supported this project. Bernard and Wilkins are the CTSA co-principal investigators.