INTRODUCTION: Several high throughput next generation sequencing platforms that search for targetable genetic alterations in cancer are now available in the clinic. However, a large number of germline variants may also be detected during testing, some of which may predispose a patient to diseases other than cancer. If, and how, to disclose these incidental genetic findings is controversial. The purpose of this study was to assess patient preferences regarding disclosure of incidental genetic findings.
METHODS: We developed a cross-sectional questionnaire study of ambulatory breast oncology patients. Patients completed a 45 item questionnaire, including their disclosure preferences about various hypothetical scenarios of incidental genetic findings found during tumor profiling. Basic descriptive statistics and the proportional odds logistic regression were used for analysis. RESULTS: Of 351 patients approached between February-May 2014, 199 (56%) responded. Participants had a mean age of 55 (29-80), and most were Caucasian (75%), had Stage 0-III disease (61%), were college-educated (53%) and comfortable with basic genetic information (69%). Sixty-eight percent of respondents desired tumor profiling even if they were found to carry a mutation that could cause a disease other than cancer. While 74% initially indicated they would want to know all genetic information found, only 47% of respondents wanted to know about variants of uncertain significance when specifically questioned. Only 12% expressed preference not to learn about a mutation that was potentially heritable. Most patients (82%) preferred to know if they had a mutation that increased their risk of a serious but preventable illness (eg heart disease), but only 57% desired information for mutations that always caused a serious and unpreventable illness (eg Alzheimers dementia). Interestingly, 62% of patients desired tumor profiling even if there was only a 1% chance it would help their treatment, yet 54% endorsed significant concern about the potential risk of incidental findings impacting their ability to obtain health insurance. Ultimately, 59% of respondents indicated that they would agree to undergo tumor profiling if offered by their doctor; Caucasians (OR 4.1, CI 2-8.3) and those with prior knowledge of tumor profiling (OR 2.6, CI 1.3-5.1) were more likely to agree, while cancer stage, treatment, marital status, education, income, family history and other demographic factors were not significant.
CONCLUSIONS: A majority of breast cancer patients express interest in pursuing tumor profiling. The potential for incidental genetic findings does not appear to significantly dissuade patients from pursuing this technology, nor does the potential for learning about germline traits that could impact family members. However, there is remarkable variability in disclosure preferences of specific types of incidental findings.
Citation Format: Melinda L. Yushak, Sara Bouberhan, Gang Han, Lianne Epstein, Sarah Mougalian, Maysa Abu-Khalaf, Gina Chung, Michael DiGiovanna, Tara Sanft, Lajos Pusztai, Erin Hofstatter. Patient preferences for disclosure of incidental genetic information discovered through high-throughput sequencing. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 3879. doi:10.1158/1538-7445.AM2015-3879