genetic testing

Point-of-care Genetics May Reduce Racial Disparities in Genetically Informed Cancer Care

A new study suggests that strategies that reduce barriers to seeing a genetic counselor—such as modifications to clinical workflow—may help mitigate racial/ethnic disparities in genetic testing.

Genetic testing is a critical tool that can help individuals evaluate their risk of developing many cancers and other chronic diseases, but past research suggests that more than 70 percent of eligible patients have never discussed this testing with a healthcare provider. Furthermore, barriers to testing disproportionally affect racial and ethnic minority populations.

To identify more equitable models for cancer genetic testing, a team of researchers from the School of Public Health and CancerIQ examined racial/ethnic disparities along the continuum of cancer genetic service delivery in a new study, with a goal to identify specific areas of patient attrition along clinical workflows to improve genetic testing processes and reduce racial disparities in cancer genetic testing.

Published in the journal Cancer, Epidemiology, Biomarkers and Prevention, the study found that when high-risk patients were referred to a genetic counseling follow-up appointment at a later date, only 8 percent of non-Hispanic Black patients completed genetic testing, compared to 11 percent of White patients. By contrast, 37 percent of non-Hispanic Black patients completed genetic testing when their risk assessment results were discussed at the point-of-care—and there was no statistically significant difference in uptake by patient race or ethnicity. 

“The identification of inequities at every stage of the genetic service delivery process will enhance our understanding of possible drivers of disparities along the care continuum and facilitate intervention efforts to ensure equitable access to genetic services,” says study corresponding author Catharine Wang, associate professor of community health sciences.

For the study, Wang and colleagues analyzed retrospective data from 15 clinical sites across 6 states and 14,527 patients. Patients at each of the sites were screened using CancerIQ’s digital risk assessment software, which determines hereditary cancer risk based on comprehensive risk factors and the latest evidence based guidelines. Based on the clinical workflow deployed at the site, patients who screened at high risk were either referred to see a genetic counselor in a follow-up appointment (referral workflow) or offered genetic counseling at the point-of-care and tested the same day or at a later date (POC workflow).

Fewer than 1 in 5 high-risk individuals receive genetic testing, and most of those patients have not discussed testing with a healthcare provider. This leaves patients unaware of their risk and the preventive services available to them, the researchers say. These findings indicate that providers equipped to discuss the results of cancer risk assessment with patients at the point-of-care can not only broadly improve genetic testing rates, but also eliminate disparities in testing uptake among racial/ethnic minority groups.   

“Cancer genetic risk assessment, screening, and testing is a complex process. The more we can do to lower the barriers to access at every point along this continuum, the more likely a patient is to complete the entire process and receive the care they need to stay ahead of cancer,” says Feyi Ayodele, CEO and cofounder of CancerIQ.

The study was led by SPH alum Ingrid Wagner (SPH’23) and coauthored by Ziming Xuan, professor of community health sciences at SPH, and Haibo Lu, cofounder and chief data officer of CancerIQ.