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

Genet Med. 2016 Oct;18(10):1011-9. doi: 10.1038/gim.2015.207. Epub 2016 Feb 11.


Purpose: 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.

Methods: 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.

Results: 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%).

Conclusion: 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.

Trial registration: ClinicalTrials.gov NCT02127359.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Exome / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genome, Human
  • Germ-Line Mutation / genetics*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Incidental Findings
  • Male
  • Middle Aged
  • Neoplasms / epidemiology
  • Neoplasms / genetics*
  • Neoplasms / physiopathology
  • Oncologists
  • Prognosis

Associated data

  • ClinicalTrials.gov/NCT02127359