Perceptions of DNA Sequencing Among Patients with Cancer from Diverse Ancestries - Expert Commentary

Genomic profiling is increasingly used in the clinic for treatment selection. Bergerot et al. tested whether patient characteristics and perceptions affect their choice to opt in for DNA sequencing.

The researchers focused on patients with urothelial, prostate, or kidney cancers. Patients who were referred for genomic sequencing completed a questionnaire before testing. Patients received no counseling or written information about the test before completing the questionnaire. The survey was designed by the investigators to assess patient expectations and concerns surrounding genomic profiling. A total of 150 patients were enrolled in the study, among whom 24.7% underwent germline testing, 54.0% underwent somatic testing, and 21.3% underwent both. The mean age among participants was 68 years; 74.0% were males, and 66.7% were White. Most patients had renal cell carcinoma (64.2%), while 18.3% had urothelial carcinoma.

Race was a determinant of patient motivations for pursuing genomic sequencing. For instance, White patients perceived the “potential to guide the type of treatment” (54.1% versus 43.9%; p = 0.04) and “desire to contribute to science research” (4.7% versus 2.0%; p = 0.02) as important motivators compared with patients of other ethnicities. The latter group identified with the following motivators more than White patients: “potential to learn more about my cancer” (22.0% versus 10.1%; p = 0.04), “trust in my physician” (19.5 versus 16.5%; p = 0.04), “potential to improve treatment response” (17.1% versus 13.8%; p = 0.04), “potential to predict disease outcome” (9.8% versus 7.3%; p = 0.03), and “potential to reduce unnecessary treatment” (7.3% versus 1.8%; p = 0.02). There were no patient differences with respect to expectations of results, and responses were not associated with any clinical characteristics. Overall, 80.0% of patients mistakenly believed that there would be a higher chance of cure if genomic profiling indicated they had a mutation. Regarding concerns, non-White patients were more anxious about test results (34.4% versus 21.3%; p = 0.01) and learning that their cancer was aggressive (43.8% versus 27.7%; p = 0.01) than White patients.

This important work shows that racial and ethnic differences affect beliefs regarding genomic testing. As these perceptions may act as barriers and influence the uptake of valuable testing, healthcare professionals should be adequately trained to provide accurate and comprehensive information on the benefits, limitations, and objectives of genomic profiling to diverse populations. The study cohort mainly consisted of White and Hispanic or Latino patients and did not sufficiently represent patients from other ethnic backgrounds. Follow-up studies can address this limitation and explore differences in access to genomic testing.

Written by: Bishoy M. Faltas, MD, Director of Bladder Cancer Research, Englander Institute for Precision Medicine, Weill Cornell Medicine


  1. Bergerot CD, Philip EJ, Malhotra J, et al. Racial and ethnic differences in perceptions of germline or somatic DNA sequencing among patients with advanced prostate, urothelial, or kidney cancer [published online ahead of print, 2023 Sep 12]. J Genet Couns. 2023;10.1002/jgc4.1786.
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