"Is it cancer or not?" A qualitative exploration of survivor concerns surrounding the diagnosis and treatment of ductal carcinoma in situ.

BACKGROUND: Of the nearly 50,000 women in the United States who undergo treatment for ductal carcinoma in situ (DCIS) annually, many may not benefit from treatment. To better understand the impact of a DCIS diagnosis, patients self-identified as having had DCIS were engaged regarding their experience. METHODS: In July 2014, a web-based survey was administered through the Susan Love Army of Women breast cancer listserv. The survey included open-ended questions designed to assess patients' perspectives about DCIS diagnosis and treatment. Deductive and inductive codes were applied to the responses; common themes were summarized. RESULTS: Among the 1832 women included in the analytic sample, the median age at diagnosis was 60 years. Four primary themes were identified: 1) uncertainty surrounding a DCIS diagnosis, 2) uncertainty about DCIS treatment, 3) concern about treatment side effects, and 4) concern about recurrence and/or developing invasive breast cancer. When diagnosed, participants were often uncertain about whether they had cancer or not and whether they should be considered a "survivor." Uncertainty about treatment manifested as questioning the appropriateness of the amount of treatment received. Participants expressed concern about the "cancer spreading" or becoming invasive and that they were not necessarily "doing enough" to prevent recurrence. CONCLUSIONS: In a large, national sample, participants with a history of DCIS reported confusion and concern about the diagnosis and treatment, which caused worry and significant uncertainty. Developing strategies to improve patient and provider communications regarding the nature of DCIS and acknowledging gaps in the current knowledge of management options should be a priority.

Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

PURPOSE: Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care. METHODS: One hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from formalin-fixed paraffin-embedded tumor biopsy samples and matched blood samples. Somatic and germ-line alterations were ranked according to therapeutic or clinical relevance. Results were interpreted using an integrated somatic and germ-line framework and returned in accordance with patient preferences. RESULTS: At the time of this analysis, WES had been performed and results returned to the clinical team for 165 participants. Of 768 curated somatic alterations, only 31% were associated with clinical evidence and 69% with preclinical or inferential evidence. Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance. The variant review and decision-making processes were effective when the process was changed from that of a Molecular Tumor Board to a protocol-based approach. CONCLUSION: The development of novel interpretive and decision-support tools that draw from scientific and clinical evidence will be crucial for the success of cancer precision medicine in WES studies.Genet Med advance online publication 26 January 2017.

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

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.

Interactive or static reports to guide clinical interpretation of cancer genomics.

Objective: Misinterpretation of complex genomic data presents a major challenge in the implementation of precision oncology. We sought to determine whether interactive genomic reports with embedded clinician education and optimized data visualization improved genomic data interpretation. Materials and Methods: We conducted a randomized, vignette-based survey study to determine whether exposure to interactive reports for a somatic gene panel, as compared to static reports, improves physicians' genomic comprehension and report-related satisfaction (overall scores calculated across 3 vignettes, range 0-18 and 1-4, respectively, higher score corresponding with improved endpoints). Results: One hundred and five physicians at a tertiary cancer center participated (29% participation rate): 67% medical, 20% pediatric, 7% radiation, and 7% surgical oncology; 37% female. Prior to viewing the case-based vignettes, 34% of the physicians reported difficulty making treatment recommendations based on the standard static report. After vignette/report exposure, physicians' overall comprehension scores did not differ by report type (mean score: interactive 11.6 vs static 10.5, difference = 1.1, 95% CI, -0.3, 2.5, P = .13). However, physicians exposed to the interactive report were more likely to correctly assess sequencing quality (P < .001) and understand when reports needed to be interpreted with caution (eg, low tumor purity; P = .02). Overall satisfaction scores were higher in the interactive group (mean score 2.5 vs 2.1, difference = 0.4, 95% CI, 0.2-0.7, P = .001). Discussion and Conclusion: Interactive genomic reports may improve physicians' ability to accurately assess genomic data and increase report-related satisfaction. Additional research in users' genomic needs and efforts to integrate interactive reports into electronic health records may facilitate the implementation of precision oncology.