Patient preferences regarding incidental genomic findings discovered during tumor profiling

• Published in: Cancer Vol. 122; no. 10; pp. 1588 - 1597
• Main Authors: Yushak, Melinda L., Han, Gang, Bouberhan, Sara, Epstein, Lianne, DiGiovanna, Michael P., Mougalian, Sarah S., Sanft, Tara B., Abu‐Khalaf, Maysa M., Chung, Gina G., Stein, Stacey M., Goldberg, Sarah B., Pusztai, Lajos, Hofstatter, Erin W.
• Format: Journal Article
• Language: English
• Published: United States 15.05.2016
• Subjects: Adult; Aged; Aged, 80 and over; Cohort Studies; Cross-Sectional Studies; Disclosure; genome; genomics; Germ-Line Mutation; germline mutation; Humans; incidental findings; Male; Middle Aged; Neoplasms - genetics; Neoplasms - pathology; Neoplasms - psychology; Patient Preference - psychology; questionnaire; Surveys and Questionnaires; genome; genomics; disclosure; questionnaire; incidental findings; germline mutation
• ISSN: 0008-543X; 1097-0142
• DOI: 10.1002/cncr.29951

BACKGROUND During the process of tumor profiling, there is the potential to detect germline variants. To the authors' knowledge, there currently is no accepted standard of care for how to deal with these incidental findings. The goal of the current study was to assess disclosure preferences among patients with cancer regarding incidental genomic variants that may be discovered during tumor profiling. METHODS A 45‐item questionnaire was administered to 413 patients in ambulatory oncology clinics. The survey captured demographic and disease variables and personal and family history, and presented case scenarios for different types of incidental germline variants that could theoretically be detected during genomic analysis of a patient's tumor. RESULTS The possibility of discovering non‐cancer‐related, germline variants did not deter patients from tumor profiling: 77% wanted to be informed concerning variants that could increase their risk of a serious but preventable illness, 56% wanted to know about variants that cause a serious but unpreventable illness, and 49% wanted to know about variants of uncertain significance. The majority of patients (75%) indicated they would share hereditary information regarding predisposition to preventable diseases with family and 62% would share information concerning unpreventable diseases. The most frequent concerns about incidental findings were ability to obtain health (48%) or life (41%) insurance. Only 21% of patients were concerned about privacy of information. CONCLUSIONS Patients with cancer appear to prefer to receive information regarding incidental germline variants, but there is substantial variability with regard to what information patients wish to learn. The authors recommend that personal preferences for the disclosure of different types of incidental findings be clarified before a tumor profiling test is ordered. Cancer 2016;122:1588–97. © 2016 American Cancer Society. During the process of tumor profiling, there is the potential to detect incidental germline variants for hereditary cancer syndromes and other major health issues. Among a cohort of ambulatory oncology patients, a majority indicated a preference for receiving information regarding these incidental health‐related findings, but personal preferences for the disclosure of different types of incidental findings should be clarified in advance of ordering a tumor profiling test.