Biobanks are an essential resource for researchers conducting scientific and translational research but require significant support from institutions and healthcare workers (HW) to operate and are reliant on patient consent and participation. In order to better understand the barriers to institution-wide biobanking, we conducted a survey to examine the knowledge, attitudes and concerns of patients and HW on a range of biobanking-related topics, including consenting practices, privacy and trust in the healthcare team and researchers, and current practices at Sunnybrook Health Sciences Centre. Overall, we found that there is strong patient and HW support for biobanking as a resource for research (89–96%). Furthermore, the majority 53% of HW are willing to incorporate biobanking into their clinical workflow and 39% had a neutral response. Encouragingly, patients possess a high level of trust in their healthcare team (80-99%). The main concerns regarding sample donation were ‘breaches of privacy’ and ‘genetic information being used in an exclusionary (discriminatory) fashion.’ Concerns around specimen utilization emerged as a major theme from HW. These results will inform and enhance future biobanking practices to improve the patient experience and increase patient engagement while streamlining specimen collection and utilization for scientific research.

Background: Targeted next-generation sequencing (NGS) panels are increasingly being utilized to identify actionable gene amplifications (copy number > 4) among solid tumors. Methods: This study validated the analytical performance of two amplicon-based NGS assays, the Oncomine Comprehensive Panel (OCAv3) and the Oncomine Focus Assay (OFA), for detecting gene amplification in formalin-fixed paraffin-embedded (FFPE) tumors of varying cellularity. OCAv3 was assessed for amplification detection in 756 FFPE samples comprising various tumor types. Results: We demonstrated that with standardized quality control metrics, including median absolute pairwise difference score, these assays can achieve a near-perfect positive predictive value, although their sensitivity for detecting amplifications significantly decreased in tumors with cellularity below 30%. Stratifying tumor cellularity into 10–30%, 31–60%, and 61–95% groups revealed significantly higher gene amplification detection rates in the 31–60% and 61–95% groups versus the 10–30% group (20.6% and 26.7% vs. 9.2%, p < 0.0001). When considering all detected gene amplifications, the average amplification calling per sample was nearly five-fold lower in the 10–30% group versus the 61–95% group (0.11 vs. 0.52; p < 0.0001). To further investigate the analytic performance of OCAv3 in detecting ERBB2 amplification, we analyzed a cohort of 121 uterine carcinomas with confirmed ERBB2 status by HER2 IHC or FISH, in which a threshold incorporating amplifications and tumor cellularity achieved 79% sensitivity and 100% specificity, potentially eliminating the need for FISH analysis in 34% of equivocal cases. In a separate validation cohort, similar analytical performance was observed, with the threshold demonstrating consistent sensitivity and specificity. Conclusions: This study highlights the strengths and limitations of amplicon-based NGS assays in detecting amplifications using real-world data.