[Online-based, qualified second opinion for patients with colorectal cancer - A pilot study of the Felix Burda Foundation in co-operation with the Network against Colorectal Cancer]. / Onlinebasierte, qualifizierte Zweitmeinung für Patienten mit kolorektalem Karzinom ­ eine Pilotstudie der Felix Burda Stiftung in Zusammenarbeit mit dem Netzwerk gegen Darmkrebs.

BACKGROUND: Modern, individualised therapies can improve the survival of patients with colorectal cancer. However, not all patients are referred for treatment to a certified colorectal cancer centre, where a tumor board supports the implementation of their therapy in accordance to guidelines. This study examines the feasibility and demand of a structured, online-based, qualified second opinion for patients with colorectal cancer. METHOD: A 15-month pilot study between 2009 and 2011, offered patients with colorectal cancer to obtain a qualified second opinion of a tumour board based on an electronic patient record completed online with the assistance of a case manager. Life-satisfaction levels and quality of life (EORCT QLQ-C30) of the participants has been monitored for a year. RESULTS: In 95 % of the cases, a complete electronic patient record and a second opinion could be generated. Less than half of the participants received their first therapy recommendation from a clinic with a tumour board. The second opinion confirmed the initial medical opinion in 40 % of the cases - 33 % showed a partial and 27 % showed a significant deviation. In case of a deviation, the implementation of the second opinion improved the patients' quality of life. CONCLUSION: Generating an online-based, qualified second opinion by an interdisciplinary tumour board is technically and logistically well feasible. The online-based second opinion could significantly improve the quality of treatment for patients with colorectal cancer in the future and thus improve their quality of life.

Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients.

A growing number of druggable targets and national initiatives for precision oncology necessitate broad genomic profiling for many cancer patients. Whole exome sequencing (WES) offers unbiased analysis of the entire coding sequence, segmentation-based detection of copy number alterations (CNAs), and accurate determination of complex biomarkers including tumor mutational burden (TMB), homologous recombination repair deficiency (HRD), and microsatellite instability (MSI). To assess the inter-institution variability of clinical WES, we performed a comparative pilot study between German Centers of Personalized Medicine (ZPMs) from five participating institutions. Tumor and matched normal DNA from 30 patients were analyzed using custom sequencing protocols and bioinformatic pipelines. Calling of somatic variants was highly concordant with a positive percentage agreement (PPA) between 91 and 95% and a positive predictive value (PPV) between 82 and 95% compared with a three-institution consensus and full agreement for 16 of 17 druggable targets. Explanations for deviations included low VAF or coverage, differing annotations, and different filter protocols. CNAs showed overall agreement in 76% for the genomic sequence with high wet-lab variability. Complex biomarkers correlated strongly between institutions (HRD: 0.79-1, TMB: 0.97-0.99) and all institutions agreed on microsatellite instability. This study will contribute to the development of quality control frameworks for comprehensive genomic profiling and sheds light onto parameters that require stringent standardization.