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

Stacy W Gray, Elyse R Park, Julie Najita, Yolanda Martins, Lara Traeger, Elizabeth Bair, Joshua Gagne, Judy Garber, Pasi A Jänne, Neal Lindeman, Carol Lowenstein, Nelly Oliver, Lynette Sholl, Eliezer M Van Allen, Nikhil Wagle, Sam Wood, Levi Garraway, Steven Joffe, Stacy W Gray, Elyse R Park, Julie Najita, Yolanda Martins, Lara Traeger, Elizabeth Bair, Joshua Gagne, Judy Garber, Pasi A Jänne, Neal Lindeman, Carol Lowenstein, Nelly Oliver, Lynette Sholl, Eliezer M Van Allen, Nikhil Wagle, Sam Wood, Levi Garraway, Steven Joffe

Abstract

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.

Figures

Figure 1
Figure 1
Oncologists' attitudes regarding return of genomic test results (n=27, %). Return based on clinical utility (Panel A), clinical validity (Panel B), and all results (Panel C).
Figure 2. Patients' preferences for the return…
Figure 2. Patients' preferences for the return of somatic and germline WES results

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