Ancestry Inference From Targeted NGS Tests to Enable Precision Medicine and Improve Racial/Ethnic Representation in Clinical Trials

AGBT Precision Health Meeting Presentation
Authors Francisco M. De La Vega, Brooke Rhead, and Sean Irvine

There are well-established racial and ethnic disparities in cancer incidence and outcomes, in part due to structural, socioeconomic, environmental, and behavioral factors. Some of these differences can be attributed to biological factors, such as cancer mutation frequencies that vary by ancestry. It is well known that diversity in clinical trials is low, with Blacks and Hispanics consistently underrepresented compared to their cancer incidence, and race and ethnicity is missing in up to 50% of patient medical records and genomic profiling test orders. Moreover, self-reported race/ethnicity does not accurately reflect genetic ancestry, disproportionately affecting admixed patients. Rather than relying on self-reported race/ethnicity labels when investigating genetic effects and accounting for diversity, ancestry can be inferred directly from sequencing data collected during tumor profiling and other tests. Inferred ancestry can be used to improve representative participation in clinical trials and enable the assessment of biological differences that may determine differential efficacy of drugs for oncology and other indications.