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

Phillip S. Blanchette, Anna Spreafico, Fiona A. Miller, Kelvin Chan, Jessica Bytautas, Steve Kang, Philippe L. Bedard, Andrea Eisen, Larissa Potanina, Jack Holland, Suzanne Kamel-Reid, John Douglas Mcpherson, Albiruni R. Razak, Lillian L. Siu

Research output: Contribution to journalArticlepeer-review

56 Scopus citations


BACKGROUND Genomic 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. METHODS A 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. RESULTS Results 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. CONCLUSIONS Patients 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.

Original languageEnglish (US)
Pages (from-to)3066-3073
Number of pages8
Issue number19
StatePublished - 2014
Externally publishedYes


  • attitude
  • cancer
  • genomic testing
  • knowledge

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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