Genomic testing in cancer: Patient knowledge, attitudes, and expectations

BACKGROUNDGenomic testing in cancer (GTC) characterizes genes that play an important role in the development and growth of a patient's cancer. This form of DNA testing is currently being studied for its ability to guide cancer therapy. The objective of the current study was to describe patients' knowledge, attitudes, and expectations toward GTC.METHODSA 42‐item self‐administered GTC questionnaire was developed by a multidisciplinary group and patient pretesting. The questionnaire was distributed to patients with advanced cancer who were referred to the Princess Margaret Cancer Center for a phase 1 clinical trial or GTC testing.RESULTSResults were reported from 98 patients with advanced cancer, representing 66% of the patients surveyed. Seventy‐six percent of patients were interested in learning more about GTC, and 64% reported that GTC would significantly improve their cancer care. The median score on a 12‐item questionnaire to assess knowledge of cancer genomics was 8 of 12 items correct (67%; interquartile range, 7‐9 of 12 items correct [58%‐75%]). Scores were associated significantly with patients' education level (P < .0001). Sixty‐six percent of patients would consent to a needle biopsy, and 39% would consent to an invasive surgical biopsy if required for GTC. Only 48% of patients reported having sufficient knowledge to make an informed decision to pursue GTC whereas 34% of patients indicated a need for formal genetic counseling.CONCLUSIONSPatients with advanced cancer are motivated to participate in GTC. Patients require further education to understand the difference between somatic and germline mutations in the context of GTC. Educational programs are needed to support patients interested in pursuing GTC. Cancer 2014;120:3066–3073. © 2014 American Cancer Society.