Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: results from the CanSeq study

Journal name:
Genetics in Medicine
Published online



Although targeted sequencing improves outcomes for many cancer patients, it remains uncertain how somatic and germ-line whole-exome sequencing (WES) will integrate into care.


We conducted surveys and interviews within a study of WES integration at an academic center to determine oncologists’ attitudes about WES and to identify lung and colorectal cancer patients’ preferences for learning WES findings.


One-hundred sixty-seven patients (85% white, 58% female, mean age 60) and 27 oncologists (22% female) participated. Although oncologists had extensive experience ordering somatic tests (median 100/year), they had little experience ordering germ-line tests. Oncologists intended to disclose most WES results to patients but anticipated numerous challenges in using WES. Patients had moderately low levels of genetic knowledge (mean 4 correct out of 7). Most patients chose to learn results that could help select a clinical trial, pharmacogenetic and positive prognostic results, and results suggesting inherited predisposition to cancer and treatable noncancer conditions (all ≥95%). Fewer chose to receive negative prognostic results (84%) and results suggesting predisposition to untreatable noncancer conditions (85%).


The majority of patients want most cancer-related and incidental WES results. Patients’ low levels of genetic knowledge and oncologists’ inexperience with large-scale sequencing present challenges to implementing paired WES in practice.

Genet Med 18 10, 1011–1019.


cancer; incidental findings; return of results; sequencing

At a glance


  1. Figure 1:

    Oncologists’ attitudes regarding return of genomic test results (n = 27). Return based on (a) clinical utility, (b) clinical validity, and (c) all results.

  2. Figure 2:

    Patients’ preferences for the return of somatic and germ-line WES results.


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Author information


  1. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA

    • Stacy W. Gray,
    • Yolanda Martins,
    • Elizabeth Bair,
    • Joshua Gagne,
    • Judy Garber,
    • Pasi A. Jänne,
    • Carol Lowenstein,
    • Nelly Oliver,
    • Eliezer M. Van Allen,
    • Nikhil Wagle,
    • Sam Wood &
    • Levi Garraway
  2. Harvard Medical School, Boston, Massachusetts, USA

    • Stacy W. Gray,
    • Judy Garber,
    • Pasi A. Jänne,
    • Neal Lindeman,
    • Lynette Sholl,
    • Eliezer M. Van Allen,
    • Nikhil Wagle &
    • Levi Garraway
  3. Department of Medicine, Brigham & Women’s Hospital, Boston, Massachusetts, USA

    • Stacy W. Gray,
    • Judy Garber,
    • Pasi A. Jänne,
    • Eliezer M. Van Allen,
    • Nikhil Wagle &
    • Levi Garraway
  4. Massachusetts General Hospital, Boston, Massachusetts, USA

    • Elyse R. Park &
    • Lara Traeger
  5. Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA

    • Julie Najita
  6. Department of Pathology, Brigham & Woman’s Hospital, Boston, Massachusetts, USA

    • Neal Lindeman &
    • Lynette Sholl
  7. Broad Institute, Cambridge, Massachusetts, USA

    • Eliezer M. Van Allen,
    • Nikhil Wagle &
    • Levi Garraway
  8. Department of Medical Ethics and Health Policy, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA

    • Steven Joffe

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