Trends in Use of Next-Generation Sequencing in U.S. Patients According to Genetic Ancestry

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In a study reported in a letter to the editor in The New England Journal of Medicine, Mata et al found that U.S. individuals of African ancestry and Hispanic patients made up an increasing proportion of patients undergoing next-generation sequencing of tumor samples over a 9-year period ending in September 2022.

Study Details

The retrospective analysis included solid tumor and liquid biopsy specimens submitted to Foundation Medicine, a national commercial laboratory, for genomic profiling from April 2013 through September 2022. Patients from all 50 states were represented. Predominant genetic ancestry was defined as African, admixed American (proxy for Hispanic), East Asian, European, and South Asian.

Key Findings

A total of 620,500 samples were sequenced during the 9-year period. Among all patients represented over this time period, ancestry was predominantly European in 75.6%, African in 10.4%, Hispanic in 9.1%, East Asian in 3.7%, and South Asian in 1.1%.

The number of patients undergoing next-generation sequencing increased with time in all ancestry groups. In total, sequencing was performed in 11,827 samples in the first 12 months of the study and in 96,360 in the last 12 months of the study.

The proportions of patients with samples sequenced increased from 8.2% in 2013 to 11.8% in 2022 among patients with African ancestry (0.45 percentage point increase per year, P < .001) and from 7.9% to 9.7% among Hispanic patients (0.13 percentage point increase per year, P < .001). The proportion decreased from 78.5% to 74.1% among patients with European ancestry (0.52 percentage point decrease per year, P < .001) and from 4.1% to 3.4% among patients with East Asian ancestry (0.07 percentage point decrease per year, P < .001). No significant change over the study period was observed among patients with South Asian ancestry.

The investigators stated, “The use of next-generation sequencing among underserved racial and ethnic groups, as assessed according to genetic ancestry, has increased over the past decade. In particular, the percentage of patients who underwent genomic testing who had predominantly African ancestry increased by half a percentage point each year, reaching 12.4% by September 2022, a percentage that is similar to the 11.6% of adults 55 to 74 years of age who identified as Black or African American in the 2021 U.S. Census data…. Our findings underscore progress in expanding access to cancer genomic testing to historically marginalized groups.”

Douglas A. Mata, MD, MPH, of Foundation Medicine, Cambridge, Massachusetts, is the first author for The New England Journal of Medicine article.

Disclosure: The study was supported by Foundation Medicine. For full disclosures of the study authors, visit

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