Genetic Testing Disparities Highlighted in New Study

Strategic Insights -

Genetic testing disparities have been highlighted in a new study on the impact of race, ethnicity, and ancestry on the diagnostic utility of genetic testing. The research, published in Genetics in Medicine, found that certain non-European racial and ethnic groups experience decreased diagnostic results and increased uncertain results. The study analyzed data from 10,416 clinical exome sequencing cases and found that laboratory-initiated proactive reanalysis can help reduce disparities in diagnostic utility.

Key Takeaways:

  • The study analyzed data from 10,416 clinical exome sequencing cases, with reanalysis events through 2023.
  • The relationship between assigned racial and ethnic group, exome sequencing result, reanalysis, and reclassification rates were analyzed with logistic regression.
  • Reanalyses increased the total diagnostic yield from 21.4% to 25.5%.
  • There were no significant differences in reclassification rate among racial and ethnic groups.
  • However, the African American and Black group, the Hispanic and Latino group, and the Asian group were significantly less likely to receive provider-initiated reanalysis compared with the White group.
  • The study concluded that laboratory-initiated proactive reanalysis can help reduce disparities in exome sequencing diagnostic utility by reducing barriers to accessing reanalysis.

Statistics:

  • 10,416 clinical exome sequencing cases were analyzed in the study.
  • The total diagnostic yield increased from 21.4% to 25.5% with reanalysis.
  • The African American and Black group was 2.8E-07 times less likely to receive provider-initiated reanalysis.
  • The Hispanic and Latino group was 0.0022 times less likely to receive provider-initiated reanalysis.
  • The Asian group was 0.033 times less likely to receive provider-initiated reanalysis.

Sources:

  • NewsRx. Findings from Ambry Genetics in the Area of Science Described (Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access). Science Letter. October 31, 2025; p 292.
  • Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access. Genetics in Medicine, 2025:101576.
  • Elsevier Science Inc. (Publisher contact information for Genetics in Medicine).
  • Ambry Genetics. Exome sequencing (ES) is a unique genetic test because data can be reanalyzed with new information and variants may be reclassified after the original result.