A decade-long study shows lower rates of provider-initiated reanalysis among Hispanic, Asian, and Black patients compared with White patients.
A new study examining 10 years of exome reanalysis data has found significant disparities in provider-initiated genetic testing reanalysis across different racial, ethnic, and ancestral groups, highlighting potential barriers to equitable healthcare access.
The research, published in Genetics in Medicine and conducted by Ambry Genetics, analyzed provider-requested exome reanalysis compared with proactive, laboratory-driven reanalysis programs. The study found that Hispanic and Latino patients had 22% rates of provider-initiated reanalysis, Asian patients had 21%, and African American and Black patients had 17%, all significantly lower than the 25% rate observed in White patients.
“Our findings show that when all patient populations have regular access to genomic reanalysis, more people can benefit from new genetic discoveries,” says Andrew Giles, MS, CGC, lead author and clinical genomics scientist at Ambry, in a release. “This research not only deepens our scientific understanding, it also reinforces our commitment to equity in patient care.”
Proactive Programs Address Access Barriers
The findings suggest that non-White patients face barriers to accessing reanalysis for exome testing, consistent with previously documented barriers to genetic services. Both provider-initiated and proactive reanalysis resulted in increased positive results across all groups studied.
The study represents one of the few peer-reviewed analyses specifically evaluating exome reanalysis across racial, ethnic, and ancestral populations. Researchers say the findings could influence clinical practice guidelines and inform healthcare policies promoting more inclusive genomic testing.
Laboratory-driven reanalysis programs that provide ongoing exome reanalysis without requiring continued provider requests can eliminate provider-referral barriers and provide more equitable access to new genetic information that may impact clinical management, according to the study authors.
Industry Implications
The research underscores the importance of systematic approaches to genetic testing reanalysis in clinical laboratories. As genetic databases expand and new variants are discovered, reanalysis of previously inconclusive or negative results can yield new diagnostic information for patients.
“This research is a powerful reminder that everyone, regardless of their race, ethnicity, or background, deserves access to genomic testing informed by the newest genetic insights,” says Tom Schoenherr, CEO of Ambry Genetics, in a release.
